NOTCH3 (notch receptor 3)

Gene

• Entrez ID: 4854
• Gene name: Notch receptor 3
• Gene symbol: NOTCH3
• Synonyms (NCBI Gene): CADASIL, CADASIL1, CASIL, IMF2, LMNS
• Disease Acronyms (UniProt): CADASIL1, IMF2, LMNS
• Chromosome: 19
• Chromosome location: 19p13.12
• Summary: This gene encodes the third discovered human homologue of the Drosophilia melanogaster type I membrane protein notch. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signalling pathway that plays

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28933696	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs28933697	G>A	Pathogenic	Coding sequence variant, missense variant
rs28933698	A>G	Pathogenic	Coding sequence variant, missense variant
rs28937321	C>A	Pathogenic	Coding sequence variant, missense variant
rs75068032	G>A,C,T	Pathogenic	Coding sequence variant, missense variant
rs78926093	G>A,C,T	Benign-likely-benign, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs137852641	G>A	Pathogenic	Coding sequence variant, missense variant
rs137852642	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs145049433	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs145069047	C>A,G,T	Likely-benign, pathogenic	Missense variant, coding sequence variant
rs146904189	G>A,C,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs193921045	C>A,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs200881673	G>A,C	Likely-benign, likely-pathogenic, not-provided	Missense variant, synonymous variant, coding sequence variant
rs201118034	G>A,C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs267606915	A>T	Pathogenic	Missense variant, coding sequence variant
rs367543285	A>G	Pathogenic, not-provided	Missense variant, coding sequence variant
rs371491165	G>C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs376046941	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs764148985	G>A,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs769773673	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs773539041	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs773656789	G>-,GG	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs775267348	G>A	Likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs775836288	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs777751303	G>A	Likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs796065045	T>A	Pathogenic	Coding sequence variant, stop gained
rs797045014	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs863225297	G>C	Pathogenic	Missense variant, coding sequence variant
rs864621964	C>T	Pathogenic	Missense variant, coding sequence variant
rs864621965	CATGTCCCCCCATTGAGACATCGGTGTCCTGGACAGTCGTCCACG>-	Pathogenic	Coding sequence variant, inframe deletion
rs864621966	C>A	Pathogenic	Intron variant, splice acceptor variant
rs869312909	CCCAGGCTGAGTACACATCCTCCAGG>-	Pathogenic	Frameshift variant, coding sequence variant
rs869312910	G>T	Pathogenic	Coding sequence variant, stop gained
rs869312911	G>C	Pathogenic	Coding sequence variant, stop gained
rs886041513	C>A,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs886054260	T>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs935487877	G>A,C	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs947976672	T>A,C	Pathogenic	Missense variant, coding sequence variant
rs1023306013	C>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs1057519101	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1131691934	T>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs1174625611	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs1202763005	G>A	Pathogenic	Missense variant, coding sequence variant
rs1236699193	C>A,T	Pathogenic, not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs1313319587	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs1323608032	C>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1435305678	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs1469620436	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs1555725043	GTCCCGGCGCCAGTGGCAGCAGGAACGAGGGGCCTGGAGGGGCAGGTGGGGGCAGCCGGGCCCAATCGAGGGGCACAGCC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555725058	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1555725170	->G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555728814	C>T	Pathogenic	Coding sequence variant, missense variant
rs1555728898	A>G	Pathogenic	Coding sequence variant, missense variant
rs1555728965	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1555729064	T>C	Pathogenic	Coding sequence variant, missense variant
rs1555729068	G>A	Pathogenic	Coding sequence variant, missense variant
rs1555729070	A>C	Pathogenic	Coding sequence variant, missense variant
rs1555729105	A>C	Pathogenic	Coding sequence variant, missense variant
rs1555729346	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1555729405	C>T	Pathogenic	Coding sequence variant, missense variant
rs1555729451	C>T	Pathogenic	Coding sequence variant, missense variant
rs1555729452	C>T	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs1555729455	A>G,T	Pathogenic	Coding sequence variant, missense variant
rs1555729468	C>T	Pathogenic	Coding sequence variant, missense variant
rs1555729477	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs1555729486	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs1555729510	A>G	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs1555729534	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1555729554	A>C,G	Pathogenic	Coding sequence variant, missense variant
rs1555729584	C>A	Pathogenic	Coding sequence variant, missense variant
rs1555729589	A>C,G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs1555729604	G>A	Pathogenic	Coding sequence variant, missense variant
rs1555729610	A>G,T	Pathogenic	Coding sequence variant, missense variant
rs1555729615	C>A	Pathogenic	Coding sequence variant, missense variant
rs1555730176	C>G	Pathogenic	Coding sequence variant, missense variant
rs1555730177	A>C	Pathogenic	Coding sequence variant, missense variant
rs1555730188	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs1555730189	G>A	Pathogenic	Coding sequence variant, missense variant
rs1555730197	A>C,G	Pathogenic	Coding sequence variant, missense variant
rs1555730204	C>T	Pathogenic	Coding sequence variant, missense variant
rs1568359346	A>G	Pathogenic	Coding sequence variant, missense variant
rs1568360142	C>T	Pathogenic	Coding sequence variant, missense variant
rs1568360410	C>A	Pathogenic	Coding sequence variant, missense variant
rs1568360455	C>T	Pathogenic	Coding sequence variant, missense variant
rs1568360524	A>T	Pathogenic	Coding sequence variant, missense variant
rs1568361404	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1568361608	A>G	Pathogenic	Coding sequence variant, missense variant
rs1568361818	A>G,T	Pathogenic	Coding sequence variant, missense variant
rs1568361844	A>G	Pathogenic	Coding sequence variant, missense variant
rs1568361851	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs1568361985	C>T	Pathogenic	Coding sequence variant, missense variant
rs1568362039	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1568362232	A>G	Pathogenic	Coding sequence variant, missense variant
rs1568362252	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs1568363980	A>G	Pathogenic	Coding sequence variant, missense variant
rs1599359239	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1599359388	->GCAG	Pathogenic	Frameshift variant, coding sequence variant
rs1599387121	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1599391938	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1599391986	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1599394654	A>C	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT000665	hsa-miR-206	Review	19935707
MIRT000665	hsa-miR-206	Luciferase reporter assay, qRT-PCR, Western blot	19723635
MIRT006550	hsa-miR-1-3p	Immunoblot, Immunofluorescence, Immunoprecipitaion, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	22210864
MIRT006550	hsa-miR-1-3p	Immunoblot, Immunofluorescence, Immunoprecipitaion, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	22210864
MIRT007016	hsa-miR-150-5p	Luciferase reporter assay	21551231
MIRT017387	hsa-miR-335-5p	Microarray	18185580
MIRT000665	hsa-miR-206	Reporter assay	19723635
MIRT042194	hsa-miR-484	CLASH	23622248
MIRT053432	hsa-miR-512-5p	Microarray	23807165
MIRT006550	hsa-miR-1-3p	Luciferase reporter assay, qRT-PCR, Western blot	23055528
MIRT000665	hsa-miR-206	qRT-PCR, Immunohistochemistry, Western blot	25607234
MIRT731502	hsa-miR-491-5p	Luciferase reporter assay	27035429
MIRT731502	hsa-miR-491-5p	Luciferase reporter assay	27035429
MIRT731502	hsa-miR-491-5p	Luciferase reporter assay	27035429
MIRT731502	hsa-miR-491-5p	Luciferase reporter assay	27035429
MIRT731933	hsa-miR-136-3p	Luciferase reporter assay, qRT-PCR	27887917
MIRT731933	hsa-miR-136-3p	Luciferase reporter assay, qRT-PCR	27887917
MIRT731933	hsa-miR-136-3p	Luciferase reporter assay, qRT-PCR	27887917
MIRT731933	hsa-miR-136-3p	Luciferase reporter assay, qRT-PCR	27887917
MIRT731933	hsa-miR-136-3p	Luciferase reporter assay, qRT-PCR	27887917
MIRT731933	hsa-miR-136-3p	Luciferase reporter assay, qRT-PCR	27887917
MIRT731933	hsa-miR-136-3p	Luciferase reporter assay, qRT-PCR	27887917
MIRT731933	hsa-miR-136-3p	Luciferase reporter assay, qRT-PCR	27887917
MIRT734099	hsa-miR-1299	Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blotting	32468036
MIRT1190147	hsa-miR-1253	CLIP-seq
MIRT1190148	hsa-miR-1286	CLIP-seq
MIRT1190149	hsa-miR-136	CLIP-seq
MIRT1190150	hsa-miR-150	CLIP-seq
MIRT1190151	hsa-miR-1827	CLIP-seq
MIRT1190152	hsa-miR-188-3p	CLIP-seq
MIRT1190153	hsa-miR-1909	CLIP-seq
MIRT1190154	hsa-miR-2114	CLIP-seq
MIRT1190155	hsa-miR-2467-5p	CLIP-seq
MIRT1190156	hsa-miR-296-3p	CLIP-seq
MIRT1190157	hsa-miR-3150a-3p	CLIP-seq
MIRT1190158	hsa-miR-3158-3p	CLIP-seq
MIRT1190159	hsa-miR-3159	CLIP-seq
MIRT1190160	hsa-miR-3165	CLIP-seq
MIRT1190161	hsa-miR-3173-3p	CLIP-seq
MIRT1190162	hsa-miR-3175	CLIP-seq
MIRT1190163	hsa-miR-331-3p	CLIP-seq
MIRT1190164	hsa-miR-3605-5p	CLIP-seq
MIRT1190165	hsa-miR-3612	CLIP-seq
MIRT1190166	hsa-miR-3919	CLIP-seq
MIRT1190167	hsa-miR-3978	CLIP-seq
MIRT1190168	hsa-miR-4268	CLIP-seq
MIRT1190169	hsa-miR-4269	CLIP-seq
MIRT1190170	hsa-miR-4311	CLIP-seq
MIRT1190171	hsa-miR-4419a	CLIP-seq
MIRT1190172	hsa-miR-4447	CLIP-seq
MIRT1190173	hsa-miR-4459	CLIP-seq
MIRT1190174	hsa-miR-4472	CLIP-seq
MIRT1190175	hsa-miR-4481	CLIP-seq
MIRT1190176	hsa-miR-4510	CLIP-seq
MIRT1190177	hsa-miR-4514	CLIP-seq
MIRT1190178	hsa-miR-4660	CLIP-seq
MIRT1190179	hsa-miR-4672	CLIP-seq
MIRT1190180	hsa-miR-4675	CLIP-seq
MIRT1190181	hsa-miR-4692	CLIP-seq
MIRT1190182	hsa-miR-4695-5p	CLIP-seq
MIRT1190183	hsa-miR-4716-3p	CLIP-seq
MIRT1190184	hsa-miR-4718	CLIP-seq
MIRT1190185	hsa-miR-4722-5p	CLIP-seq
MIRT1190186	hsa-miR-4723-5p	CLIP-seq
MIRT1190187	hsa-miR-4728-5p	CLIP-seq
MIRT1190188	hsa-miR-4741	CLIP-seq
MIRT1190189	hsa-miR-4742-5p	CLIP-seq
MIRT1190190	hsa-miR-4745-5p	CLIP-seq
MIRT1190191	hsa-miR-4778-3p	CLIP-seq
MIRT1190192	hsa-miR-4779	CLIP-seq
MIRT1190193	hsa-miR-4787-5p	CLIP-seq
MIRT1190194	hsa-miR-510	CLIP-seq
MIRT1190195	hsa-miR-548k	CLIP-seq
MIRT1190196	hsa-miR-548u	CLIP-seq
MIRT1190197	hsa-miR-578	CLIP-seq
MIRT1190198	hsa-miR-643	CLIP-seq
MIRT1190199	hsa-miR-650	CLIP-seq
MIRT1190200	hsa-miR-765	CLIP-seq
MIRT1190201	hsa-miR-939	CLIP-seq
MIRT1190202	hsa-miR-940	CLIP-seq
MIRT1190171	hsa-miR-4419a	CLIP-seq
MIRT1190176	hsa-miR-4510	CLIP-seq
MIRT2055013	hsa-miR-1273f	CLIP-seq
MIRT1190152	hsa-miR-188-3p	CLIP-seq
MIRT1190153	hsa-miR-1909	CLIP-seq
MIRT1190154	hsa-miR-2114	CLIP-seq
MIRT2055014	hsa-miR-2355-5p	CLIP-seq
MIRT2055015	hsa-miR-2467-3p	CLIP-seq
MIRT2055016	hsa-miR-296-5p	CLIP-seq
MIRT2055017	hsa-miR-3126-5p	CLIP-seq
MIRT2055018	hsa-miR-3151	CLIP-seq
MIRT1190158	hsa-miR-3158-3p	CLIP-seq
MIRT1190159	hsa-miR-3159	CLIP-seq
MIRT2055019	hsa-miR-34a	CLIP-seq
MIRT2055020	hsa-miR-34c-5p	CLIP-seq
MIRT2055021	hsa-miR-3926	CLIP-seq
MIRT2055022	hsa-miR-4267	CLIP-seq
MIRT2055023	hsa-miR-4283	CLIP-seq
MIRT2055024	hsa-miR-4323	CLIP-seq
MIRT1190171	hsa-miR-4419a	CLIP-seq
MIRT2055025	hsa-miR-4489	CLIP-seq
MIRT2055026	hsa-miR-4492	CLIP-seq
MIRT2055027	hsa-miR-4498	CLIP-seq
MIRT2055028	hsa-miR-449a	CLIP-seq
MIRT2055029	hsa-miR-449b	CLIP-seq
MIRT2055030	hsa-miR-4505	CLIP-seq
MIRT1190176	hsa-miR-4510	CLIP-seq
MIRT2055031	hsa-miR-4640-5p	CLIP-seq
MIRT1190179	hsa-miR-4672	CLIP-seq
MIRT1190180	hsa-miR-4675	CLIP-seq
MIRT2055032	hsa-miR-4690-3p	CLIP-seq
MIRT2055033	hsa-miR-4708-3p	CLIP-seq
MIRT2055034	hsa-miR-4715-5p	CLIP-seq
MIRT2055035	hsa-miR-4726-5p	CLIP-seq
MIRT2055036	hsa-miR-4731-5p	CLIP-seq
MIRT1190188	hsa-miR-4741	CLIP-seq
MIRT2055037	hsa-miR-4795-5p	CLIP-seq
MIRT2055038	hsa-miR-485-5p	CLIP-seq
MIRT2055039	hsa-miR-486-3p	CLIP-seq
MIRT1190195	hsa-miR-548k	CLIP-seq
MIRT2055040	hsa-miR-548s	CLIP-seq
MIRT2055041	hsa-miR-571	CLIP-seq
MIRT2055042	hsa-miR-762	CLIP-seq
MIRT2283998	hsa-miR-1	CLIP-seq
MIRT2283999	hsa-miR-1224-3p	CLIP-seq
MIRT2284000	hsa-miR-1226	CLIP-seq
MIRT2284001	hsa-miR-1260	CLIP-seq
MIRT2284002	hsa-miR-1260b	CLIP-seq
MIRT2284003	hsa-miR-1280	CLIP-seq
MIRT1190148	hsa-miR-1286	CLIP-seq
MIRT2284004	hsa-miR-1290	CLIP-seq
MIRT1190152	hsa-miR-188-3p	CLIP-seq
MIRT1190154	hsa-miR-2114	CLIP-seq
MIRT2284005	hsa-miR-2276	CLIP-seq
MIRT2055015	hsa-miR-2467-3p	CLIP-seq
MIRT1190156	hsa-miR-296-3p	CLIP-seq
MIRT2284006	hsa-miR-3156-3p	CLIP-seq
MIRT1190159	hsa-miR-3159	CLIP-seq
MIRT1190160	hsa-miR-3165	CLIP-seq
MIRT2284007	hsa-miR-3184	CLIP-seq
MIRT1190163	hsa-miR-331-3p	CLIP-seq
MIRT2055019	hsa-miR-34a	CLIP-seq
MIRT2055020	hsa-miR-34c-5p	CLIP-seq
MIRT2284008	hsa-miR-3673	CLIP-seq
MIRT2284009	hsa-miR-3943	CLIP-seq
MIRT1190167	hsa-miR-3978	CLIP-seq
MIRT2284010	hsa-miR-423-5p	CLIP-seq
MIRT1190168	hsa-miR-4268	CLIP-seq
MIRT1190169	hsa-miR-4269	CLIP-seq
MIRT1190170	hsa-miR-4311	CLIP-seq
MIRT2055024	hsa-miR-4323	CLIP-seq
MIRT1190171	hsa-miR-4419a	CLIP-seq
MIRT1190172	hsa-miR-4447	CLIP-seq
MIRT1190173	hsa-miR-4459	CLIP-seq
MIRT1190174	hsa-miR-4472	CLIP-seq
MIRT1190175	hsa-miR-4481	CLIP-seq
MIRT2055028	hsa-miR-449a	CLIP-seq
MIRT2055029	hsa-miR-449b	CLIP-seq
MIRT1190176	hsa-miR-4510	CLIP-seq
MIRT1190177	hsa-miR-4514	CLIP-seq
MIRT2284011	hsa-miR-4530	CLIP-seq
MIRT1190178	hsa-miR-4660	CLIP-seq
MIRT1190179	hsa-miR-4672	CLIP-seq
MIRT1190180	hsa-miR-4675	CLIP-seq
MIRT1190181	hsa-miR-4692	CLIP-seq
MIRT2055033	hsa-miR-4708-3p	CLIP-seq
MIRT2284012	hsa-miR-4710	CLIP-seq
MIRT2055034	hsa-miR-4715-5p	CLIP-seq
MIRT1190184	hsa-miR-4718	CLIP-seq
MIRT1190185	hsa-miR-4722-5p	CLIP-seq
MIRT1190188	hsa-miR-4741	CLIP-seq
MIRT1190189	hsa-miR-4742-5p	CLIP-seq
MIRT1190190	hsa-miR-4745-5p	CLIP-seq
MIRT1190191	hsa-miR-4778-3p	CLIP-seq
MIRT1190192	hsa-miR-4779	CLIP-seq
MIRT2284013	hsa-miR-4792	CLIP-seq
MIRT2055039	hsa-miR-486-3p	CLIP-seq
MIRT2284014	hsa-miR-5095	CLIP-seq
MIRT1190194	hsa-miR-510	CLIP-seq
MIRT1190195	hsa-miR-548k	CLIP-seq
MIRT2055041	hsa-miR-571	CLIP-seq
MIRT1190197	hsa-miR-578	CLIP-seq
MIRT2284015	hsa-miR-613	CLIP-seq
MIRT2284016	hsa-miR-634	CLIP-seq
MIRT1190198	hsa-miR-643	CLIP-seq
MIRT2284017	hsa-miR-875-3p	CLIP-seq
MIRT1190177	hsa-miR-4514	CLIP-seq
MIRT1190178	hsa-miR-4660	CLIP-seq
MIRT1190181	hsa-miR-4692	CLIP-seq
MIRT2582118	hsa-miR-27a	CLIP-seq
MIRT2582119	hsa-miR-27b	CLIP-seq
MIRT2055024	hsa-miR-4323	CLIP-seq
MIRT2055032	hsa-miR-4690-3p	CLIP-seq
MIRT1190183	hsa-miR-4716-3p	CLIP-seq
MIRT1190186	hsa-miR-4723-5p	CLIP-seq
MIRT2582120	hsa-miR-4758-3p	CLIP-seq
MIRT2582121	hsa-miR-513a-5p	CLIP-seq
MIRT2582122	hsa-miR-637	CLIP-seq
MIRT2582118	hsa-miR-27a	CLIP-seq
MIRT2582119	hsa-miR-27b	CLIP-seq
MIRT2055024	hsa-miR-4323	CLIP-seq
MIRT1190171	hsa-miR-4419a	CLIP-seq
MIRT1190176	hsa-miR-4510	CLIP-seq
MIRT2055032	hsa-miR-4690-3p	CLIP-seq
MIRT1190183	hsa-miR-4716-3p	CLIP-seq
MIRT1190186	hsa-miR-4723-5p	CLIP-seq
MIRT1190187	hsa-miR-4728-5p	CLIP-seq
MIRT2582120	hsa-miR-4758-3p	CLIP-seq
MIRT2582121	hsa-miR-513a-5p	CLIP-seq
MIRT2582122	hsa-miR-637	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
MSX1	Activation	18201699

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	11006133, 11101851, 17292860, 32296183
GO:0005576	Component	Extracellular region	TAS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	IDA	15350543
GO:0005886	Component	Plasma membrane	TAS
GO:0006367	Process	Transcription initiation from RNA polymerase II promoter	TAS
GO:0007219	Process	Notch signaling pathway	IBA	21873635
GO:0007219	Process	Notch signaling pathway	TAS
GO:0007221	Process	Positive regulation of transcription of Notch receptor target	TAS
GO:0007411	Process	Axon guidance	IBA	21873635
GO:0009986	Component	Cell surface	IBA	21873635
GO:0015629	Component	Actin cytoskeleton	IDA
GO:0016021	Component	Integral component of membrane	IEA
GO:0038023	Function	Signaling receptor activity	IMP	15350543
GO:0042802	Function	Identical protein binding	IPI	26051713
GO:0043235	Component	Receptor complex	IBA	21873635
GO:0043235	Component	Receptor complex	IDA	23382219
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0045746	Process	Negative regulation of Notch signaling pathway	TAS
GO:0050793	Process	Regulation of developmental process	IEA

Other IDs

• MIM: 600276
• HGNC: 7883
• e!Ensembl: ENSG00000074181

Protein

• UniProt ID: Q9UM47
• Protein name: Neurogenic locus notch homolog protein 3 (Notch 3) [Cleaved into: Notch 3 extracellular truncation; Notch 3 intracellular domain]
• Protein function: Functions as a receptor for membrane-bound ligands Jagged1, Jagged2 and Delta1 to regulate cell-fate determination (PubMed:15350543). Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activa
• PDB: 4ZLP, 5CZV, 5CZX, 6WQU, 6XSW, 8OS0
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00008	EGF	43 → 75	EGF-like domain	Domain
  PF00008	EGF	123 → 154	EGF-like domain	Domain
  PF07645	EGF_CA	158 → 201	Calcium-binding EGF domain	Domain
  PF00008	EGF	201 → 232	EGF-like domain	Domain
  PF00008	EGF	240 → 270	EGF-like domain	Domain
  PF07645	EGF_CA	274 → 315	Calcium-binding EGF domain	Domain
  PF00008	EGF	317 → 348	EGF-like domain	Domain
  PF00008	EGF	355 → 385	EGF-like domain	Domain
  PF07645	EGF_CA	391 → 430	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	431 → 467	Calcium-binding EGF domain	Domain
  PF00008	EGF	473 → 503	EGF-like domain	Domain
  PF00008	EGF	511 → 541	EGF-like domain	Domain
  PF00008	EGF	549 → 578	EGF-like domain	Domain
  PF00008	EGF	586 → 616	EGF-like domain	Domain
  PF12661	hEGF	666 → 686	Human growth factor-like EGF	Domain
  PF12661	hEGF	704 → 724	Human growth factor-like EGF	Domain
  PF00008	EGF	775 → 806	EGF-like domain	Domain
  PF07645	EGF_CA	810 → 848	Calcium-binding EGF domain	Domain
  PF00008	EGF	853 → 883	EGF-like domain	Domain
  PF12661	hEGF	896 → 916	Human growth factor-like EGF	Domain
  PF00008	EGF	926 → 958	EGF-like domain	Domain
  PF00008	EGF	1004 → 1032	EGF-like domain	Domain
  PF00008	EGF	1051 → 1080	EGF-like domain	Domain
  PF00008	EGF	1088 → 1118	EGF-like domain	Domain
  PF00008	EGF	1126 → 1155	EGF-like domain	Domain
  PF00008	EGF	1164 → 1201	EGF-like domain	Domain
  PF00008	EGF	1339 → 1371	EGF-like domain	Domain
  PF00066	Notch	1384 → 1418	LNR domain	Domain
  PF00066	Notch	1425 → 1459	LNR domain	Domain
  PF00066	Notch	1464 → 1501	LNR domain	Domain
  PF06816	NOD	1505 → 1560	NOTCH protein	Family
  PF07684	NODP	1577 → 1637	NOTCH protein	Family
  PF12796	Ank_2	1811 → 1905	Ankyrin repeats (3 copies)	Repeat
  PF12796	Ank_2	1910 → 2002	Ankyrin repeats (3 copies)	Repeat
  PF11936	DUF3454	2211 → 2274	Domain of unknown function (DUF3454)	Family

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed in fetal and adult tissues.
• Sequence:

  MGPGARGRRRRRRPMSPPPPPPPVRALPLLLLLAGPGAAAPPCLDGSPCANGGRCTQLPS
  REAACLCPPGWVGERCQLEDPCHSGPCAGRGVCQSSVVAGTARFSCRCPRGFRGPDCSLP
  DPCLSSPCAHGARCSVGPDGRFLCSCPPGYQGRSCRSDVDECRVGEPCRHGGTCLNTPGS
  FRCQCPAGYTGPLCENPAVPCAPSPCRNGGTCRQSGDLTYDCACLPGFEGQNCEVNVDDC
  PGHRCLNGGTCVDGVNTYNCQCPPEWTGQFCTEDVDECQLQPNACHNGGTCFNTLGGHSC
  VCVNGWTGESCSQNIDDCATAVCFHGATCHDRVASFYCACPMGKTGLLCHLDDACVSNPC
  HEDAICDTNPVNGRAICTCPPGFTGGACDQDVDECSIGANPCEHLGRCVNTQGSFLCQCG
  RGYTGPRCETDVNECLSGPCRNQATCLDRIGQFTCICMAGFTGTYCEVDIDECQSSPCVN
  GGVCKDRVNGFSCTCPSGFSGSTCQLDVDECASTPCRNGAKCVDQPDGYECRCAEGFEGT
  LCDRNVDDCSPDPCHHGRCVDGIASFSCACAPGYTGTRCESQVDECRSQPCRHGGKCLDL
  VDKYLCRCPSGTTGVNCEVNIDDCASNPCTFGVCRDGINRYDCVCQPGFTGPLCNVEINE
  CASSPCGEGGSCVDGENGFRCLCPPGSLPPLCLPPSHPCAHEPCSHGICYDAPGGFRCVC
  EPGWSGPRCSQSLARDACESQPCRAGGTCSSDGMGFHCTCPPGVQGRQCELLSPCTPNPC
  EHGGRCESAPGQLPVCSCPQGWQGPRCQQDVDECAGPAPCGPHGICTNLAGSFSCTCHGG
  YTGPSCDQDINDCDPNPCLNGGSCQDGVGSFSCSCLPGFAGPRCARDVDECLSNPCGPGT
  CTDHVASFTCTCPPGYGGFHCEQDLPDCSPSSCFNGGTCVDGVNSFSCLCRPGYTGAHCQ
  HEADPCLSRPCLHGGVCSAAHPGFRCTCLESFTGPQCQTLVDWCSRQPCQNGGRCVQTGA
  YCLCPPGWSGRLCDIRSLPCREAAAQIGVRLEQLCQAGGQCVDEDSSHYCVCPEGRTGSH
  CEQEVDPCLAQPCQHGGTCRGYMGGYMCECLPGYNGDNCEDDVDECASQPCQHGGSCIDL
  VARYLCSCPPGTLGVLCEINEDDCGPGPPLDSGPRCLHNGTCVDLVGGFRCTCPPGYTGL
  RCEADINECRSGACHAAHTRDCLQDPGGGFRCLCHAGFSGPRCQTVLSPCESQPCQHGGQ
  CRPSPGPGGGLTFTCHCAQPFWGPRCERVARSCRELQCPVGVPCQQTPRGPRCACPPGLS
  GPSCRSFPGSPPGASNASCAAAPCLHGGSCRPAPLAPFFRCACAQGWTGPRCEAPAAAPE
  VSEEPRCPRAACQAKRGDQRCDRECNSPGCGWDGGDCSLSVGDPWRQCEALQCWRLFNNS
  RCDPACSSPACLYDNFDCHAGGRERTCNPVYEKYCADHFADGRCDQGCNTEECGWDGLDC
  ASEVPALLARGVLVLTVLLPPEELLRSSADFLQRLSAILRTSLRFRLDAHGQAMVFPYHR
  PSPGSEPRARRELAPEVIGSVVMLEIDNRLCLQSPENDHCFPDAQSAADYLGALSAVERL
  DFPYPLRDVRGEPLEPPEPSVPLLPLLVAGAVLLLVILVLGVMVARRKREHSTLWFPEGF
  SLHKDVASGHKGRREPVGQDALGMKNMAKGESLMGEVATDWMDTECPEAKRLKVEEPGMG
  AEEAVDCRQWTQHHLVAADIRVAPAMALTPPQGDADADGMDVNVRGPDGFTPLMLASFCG
  GALEPMPTEEDEADDTSASIISDLICQGAQLGARTDRTGETALHLAARYARADAAKRLLD
  AGADTNAQDHSGRTPLHTAVTADAQGVFQILIRNRSTDLDARMADGSTALILAARLAVEG
  MVEELIASHADVNAVDELGKSALHWAAAVNNVEATLALLKNGANKDMQDSKEETPLFLAA
  REGSYEAAKLLLDHFANREITDHLDRLPRDVAQERLHQDIVRLLDQPSGPRSPPGPHGLG
  PLLCPPGAFLPGLKAAQSGSKKSRRPPGKAGLGPQGPRGRGKKLTLACPGPLADSSVTLS
  PVDSLDSPRPFGGPPASPGGFPLEGPYAAATATAVSLAQLGGPGRAGLGRQPPGGCVLSL
  GLLNPVAVPLDWARLPPPAPPGPSFLLPLAPGPQLLNPGTPVSPQERPPPYLAVPGHGEE
  YPAAGAHSSPPKARFLRVPSEHPYLTPSPESPEHWASPSPPSLSDWSESTPSPATATGAM
  ATTTGALPAQPLPLSVPSSLAQAQTQLGPQPEVTPKRQVLA

• Sequence length: 2321

Pathways

KEGG:

Endocrine resistance
Notch signaling pathway
Apelin signaling pathway
Th1 and Th2 cell differentiation
Thyroid hormone signaling pathway
Human papillomavirus infection
Pathways in cancer
MicroRNAs in cancer
Breast cancer

Reactome:

Pre-NOTCH Transcription and Translation
Pre-NOTCH Processing in Golgi
Notch-HLH transcription pathway
Defective LFNG causes SCDO3
NOTCH3 Activation and Transmission of Signal to the Nucleus
NOTCH3 Intracellular Domain Regulates Transcription
Noncanonical activation of NOTCH3

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243	21036696
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038	21036696
Carcinoma	Squamous cell carcinoma	rs121912654, rs555607708, rs786202962, rs1564055259	27923803
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy	rs113993970, rs864622781, rs781563777, rs864622782, rs864622783, rs1554948318, rs1554950655, rs1273355332, rs1554952277, rs1554952291, rs1267457680
Chondrocalcinosis	Calcium pyrophosphate deposition disease	rs121908405, rs28939080, rs121908407, rs2126640512, rs121908408, rs121908409, rs121908410
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Developmental regression	Developmental regression	rs1224421127
Epileptic encephalopathy	Encephalopathies	rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625, rs121918626, rs121918629, rs121918632, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192242, rs118192185, rs118192188, rs118192246, rs118192186, rs118192194, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192215, rs118192216, rs118192239, rs397514458, rs387906686, rs202151337, rs121917957, rs121917929, rs121917927, rs121917966, rs121917941, rs121917964, rs121917943, rs121917965, rs121917918, rs121917963, rs121917911, rs121917912, rs121917986, rs121917987, rs121917913, rs121917945, rs121917996, rs121917975, rs121917919, rs121917993, rs121917915, rs121917995, rs121917976, rs121917994, rs121917926, rs121917951, rs121917952, rs121917980, rs121917921, rs121917935, rs121917936, rs121917984, rs121917937, rs121917985, rs121917938, rs121917928, rs121918753, rs121918781, rs121918782, rs121918784, rs121918734, rs121918788, rs121917969, rs121918775, rs121918786, rs121918796, rs121918745, rs121918740, rs121918741, rs121918789, rs121918742, rs121918791, rs121918811, rs121917922, rs121918744, rs121918778, rs121918767, rs121918779, rs121918770, rs121918783, rs121918773, rs121918793, rs267606051, rs398123585, rs398123588, rs398123593, rs587777164, rs587777219, rs587777310, rs587780446, rs587777492, rs587777495, rs587777577, rs267608501, rs587777721, rs587783192, rs587783200, rs104894745, rs587784453, rs587784454, rs587784438, rs587784440, rs727504136, rs727503974, rs727504140, rs727504173, rs201497300, rs786204967, rs794726739, rs794726845, rs779614747, rs794726726, rs794726763, rs794726754, rs794726760, rs794726759, rs199727342, rs794726800, rs794726752, rs794726825, rs794726809, rs794726696, rs794726699, rs794726705, rs794726784, rs794726779, rs794726821, rs146878122, rs794726816, rs794726744, rs794726854, rs794726710, rs794726733, rs542420576, rs794726772, rs794726842, rs794726718, rs794726761, rs794726697, rs794726775, rs397514459, rs767045134, rs794726766, rs794726742, rs794726730, rs794726778, rs794726736, rs794726773, rs794726790, rs794726826, rs794726753, rs794726799, rs794726844, rs794726782, rs794726798, rs794726824, rs794726827, rs794726803, rs794726711, rs794726762, rs786205598, rs863223345, rs794727128, rs794727337, rs794727361, rs794727444, rs794727740, rs794727792, rs794727970, rs863225068, rs796053181, rs796053130, rs796053048, rs796053086, rs796053103, rs796053043, rs796053085, rs796053035, rs796053031, rs796053029, rs796053022, rs139300715, rs796053014, rs1553522472, rs796053010, rs121917908, rs796053008, rs794726789, rs796053004, rs796053072, rs796052995, rs796053067, rs796052990, rs796052987, rs796052985, rs796053065, rs1553543316, rs796053064, rs796052977, rs796052976, rs796052973, rs796052972, rs781746113, rs796052960, rs796052959, rs796053054, rs1553551312, rs796052953, rs758871507, rs796053350, rs1554776228, rs796053352, rs796053390, rs796053353, rs796053359, rs796053361, rs796053366, rs796053367, rs796053370, rs796053368, rs796053373, rs796053376, rs796053377, rs1554768992, rs796053335, rs796053233, rs796053214, rs796053216, rs796053224, rs796053228, rs796053229, rs796052658, rs796052670, rs796052654, rs796052653, rs796052652, rs773171451, rs1555853593, rs759584387, rs796052650, rs118192233, rs796052657, rs796052644, rs796052645, rs796052641, rs796052640, rs775918190, rs796052636, rs796052626, rs796052623, rs796052621, rs796052620, rs796052618, rs796052617, rs796052663, rs797044983, rs797045013, rs797044878, rs797044951, rs797044873, rs797044938, rs797045969, rs118192212, rs863225037, rs863225036, rs863225030, rs863225031, rs864321707, rs864321712, rs869312684, rs869312920, rs869312939, rs878853250, rs878854263, rs878854262, rs751170778, rs878854974, rs878855236, rs1555794286, rs879255652, rs879255695, rs879255697, rs879255704, rs879255705, rs879255709, rs879255710, rs886039323, rs886039435, rs886039494, rs886039903, rs1135401734, rs1135401733, rs1135401732, rs886042004, rs886041716, rs886041961, rs886041668, rs886041246, rs886041339, rs886041766, rs886041262, rs886041715, rs886042528, rs886042605, rs886063501, rs1555850151, rs1057516123, rs1555853971, rs1057516115, rs1057516106, rs1057516105, rs1057516099, rs1057516098, rs1057516094, rs1057516089, rs1057516086, rs1057516085, rs1057516080, rs1057516079, rs1057516076, rs1057518325, rs1057517862, rs1057517849, rs1057518243, rs1057518258, rs1057517958, rs121917974, rs1057517959, rs796053374, rs1057517919, rs1057518489, rs1057518801, rs1057518816, rs759766243, rs1057518795, rs1057518985, rs1057519000, rs1057519269, rs1057519270, rs1057519452, rs375659415, rs1057519501, rs1057519528, rs1057519526, rs1057519527, rs1057519524, rs796053083, rs1057519529, rs1057519531, rs1057519547, rs1057519548, rs1057519545, rs1057519538, rs1057519539, rs1057519537, rs1057519540, rs1057519549, rs1057519550, rs1057519535, rs1057519536, rs1057519542, rs778291283, rs1057520486, rs794726765, rs750209664, rs121917753, rs1057521746, rs1057523858, rs1057520753, rs1057520413, rs1057521080, rs1057524599, rs778481061, rs768633670, rs796052655, rs1060502190, rs1060502183, rs121918780, rs1060502185, rs1057521537, rs1060502187, rs121918765, rs1060502182, rs121917981, rs1060502188, rs1060502189, rs1060503108, rs1060501724, rs1060501722, rs1060501723, rs1060501012, rs1060504137, rs1060500603, rs1060500602, rs1060499592, rs796053138, rs1064795579, rs1553520298, rs121918805, rs1064795733, rs1064796177, rs1064795735, rs1064794634, rs1064796384, rs1064796213, rs1064793923, rs1064794727, rs1064794533, rs1064795384, rs1555850842, rs1064794001, rs1064796151, rs1064795435, rs1064797284, rs1085307930, rs1085307730, rs1085307916, rs1085307876, rs1085307920, rs1131691773, rs1131691774, rs1131691675, rs1131691775, rs1131691693, rs1131691465, rs1131691830, rs1131691936, rs1057523728, rs1199412903, rs1555228303, rs1555507477, rs1554965669, rs1555499800, rs1553923787, rs922847767, rs368609628, rs1553286282, rs1266877537, rs794726749, rs1553551425, rs1553552390, rs1554778657, rs1555889130, rs1555881741, rs1553520320, rs1553522517, rs796053006, rs1553534296, rs1553541028, rs1553544579, rs1553551385, rs1553520380, rs1553525210, rs1553541473, rs761333438, rs1553520982, rs1553522321, rs1553520318, rs1553540503, rs1553540389, rs1553542199, rs1553543215, rs1553541172, rs1553549483, rs750901301, rs794726743, rs1553545660, rs1553561023, rs1553548096, rs1553552319, rs1553560760, rs1554037381, rs1554776948, rs1554778417, rs1057522982, rs1555219147, rs1555218657, rs1555850590, rs1555869758, rs1555873823, rs1553525325, rs794727813, rs1555228771, rs1553520530, rs1555870346, rs1555955296, rs1553551493, rs1555546796, rs1555870554, rs1555871832, rs77216276, rs1554689320, rs1554777496, rs1555881809, rs1553529461, rs12131800, rs1553517274, rs1555889127, rs1555951141, rs1553590192, rs1553531178, rs1555870470, rs927722314, rs1553523142, rs1041924436, rs1553544559, rs1553544821, rs1553520319, rs1553560677, rs1553521567, rs1553522331, rs1553519872, rs1553529426, rs1553519902, rs1553520029, rs1553545522, rs1553520439, rs146515561, rs1553549461, rs1553549834, rs1553546789, rs1553553614, rs1553560676, rs1553520227, rs1553524865, rs1553525036, rs1553560740, rs1553561016, rs1193718145, rs1554769099, rs936639741, rs1352024223, rs758779535, rs1555870506, rs747376305, rs1555869700, rs1555873656, rs1555873981, rs536000212, rs959316981, rs1554777470, rs1555889108, rs1559144583, rs1569219844, rs1564346538, rs1562159088, rs1559101839, rs1559114303, rs1559140110, rs1559140306, rs1043031572, rs121918756, rs1559199628, rs1559200672, rs796053095, rs1559210063, rs1559225495, rs1553549471, rs1559103294, rs1559105368, rs121918764, rs1559114837, rs1559122124, rs1559127505, rs1559128532, rs1559140855, rs1559149128, rs1559217391, rs1559220874, rs794726695, rs1559249734, rs1553553527, rs1559101585, rs1559110846, rs1559193050, rs1559216338, rs1559231284, rs148442069, rs1559105301, rs1559114202, rs121917954, rs1559195296, rs1553546763, rs1559238432, rs1559884460, rs1559887808, rs1564352002, rs1564349850, rs1564351103, rs1565933795, rs1565886685, rs1555228668, rs587777723, rs1564333757, rs375363057, rs1568932480, rs1568925719, rs770187706, rs1568864658, rs1568899375, rs118192209, rs1568932462, rs1568927747, rs1057518555, rs1559119345, rs1085307520, rs1559200901, rs970867558, rs1568940442, rs775162839, rs1568986619, rs1558308998, rs1553546668, rs1569017015, rs1569017045, rs1569017073, rs1555889090, rs1569017143, rs1569017148, rs1569017205, rs1179351306, rs1569017257, rs1569017337, rs1555889162, rs1568658507, rs1485894376, rs1561139569, rs1574716488, rs1553519865, rs1573946994, rs1573948129, rs121918812, rs1573950349, rs1573952908, rs1573964264, rs1573964628, rs372425457, rs1573984004, rs1574004452, rs1574005235, rs1574006637, rs1574006857, rs1574039742, rs121918801, rs1574051496, rs1574051665, rs1574060250, rs1574060717, rs1574169179, rs1574170908, rs121918774, rs1574192005, rs1574192998, rs1574201591, rs1574216450, rs1574223964, rs1574224274, rs1574225593, rs748267258, rs1553547380, rs1574263819, rs1574265144, rs762927460, rs1574266490, rs1574271827, rs1574302195, rs1574371399, rs1575603683, rs763339068, rs1588313568, rs1589416130, rs1592380672, rs1592148206, rs1592149793, rs1592149906, rs1592162415, rs1592162506, rs1596787821, rs1600755607, rs1600755429, rs1600731888, rs1601573302, rs1601566621, rs1601542702, rs1601542417, rs1600886270, rs1600766500, rs1574370981, rs1573962555, rs1574068971, rs1057524737, rs1574263047, rs1575601202, rs1554777464, rs1589393179, rs1597696047, rs1247507359, rs752927520, rs1473654961, rs1592380834, rs796053036, rs1573953706, rs1573973548, rs1573984110, rs1574007140, rs1574166948, rs745378416, rs1574209023, rs796053094, rs1574264920, rs1600714727, rs755159935, rs1574281711, rs779324355, rs1053767552, rs201894374, rs770456604, rs113094436, rs1578264574, rs1260191836, rs1578265048, rs1578265068, rs1578269200, rs1186496501, rs1578269761, rs756467468, rs1381665298, rs1578270476, rs1578274054, rs769243823, rs200059198, rs749975104, rs1578282133, rs1306655122, rs1600785769, rs1580990072, rs1584399108, rs1057519189, rs1595440453, rs1596872804, rs1597653264, rs1597676610, rs1599719527, rs1600755440, rs1600786071, rs770904422, rs1574525321, rs1840653547, rs749965674, rs1841611651, rs1841766225, rs1852152679, rs1853919580, rs1858669268, rs1941650264, rs1941714576, rs1938725748, rs2037920694, rs2037920791, rs2079949302, rs2079962041, rs2079972258, rs2080188103, rs2080189052, rs1057520773, rs2081071680, rs2081187047, rs2081187692, rs2081358991, rs2081378550, rs1698943949, rs1698602170, rs1698192456, rs1698176171, rs1369404945, rs1698003832, rs1698002491, rs1697999557, rs398123581, rs1697674296, rs1697473667, rs1697277384, rs1697160366, rs1697157422, rs1426666349, rs1697134047, rs1696883051, rs1696628056, rs794726823, rs1696403750, rs897883046, rs1696401617, rs1696356978, rs1696338792, rs1693176153, rs1692577292, rs1240187329, rs1553529527, rs1692166604, rs1691093633, rs1691039670, rs1690583220, rs1690345764, rs1690011364, rs1553521530, rs1553521051, rs1386425283, rs1573952473, rs1689300152, rs1689298888, rs1689285717, rs1689278461, rs1238612161, rs1689271621, rs1253117981, rs1689218857, rs1689211960, rs1689211569, rs1689200375, rs1689142827, rs1684673339, rs1684663586, rs1699367901, rs1553553462, rs1699149959, rs1698958802, rs746440689, rs1692586274, rs1697876590, rs727504142, rs1689985819, rs794726764, rs1704944478, rs1178244073, rs1840967817, rs2080693649, rs1938214529, rs2080696874, rs2081190512, rs1691073965, rs1689488709, rs1691048388, rs1692581621, rs1692870117, rs121918785, rs749539763, rs1842042825, rs2081190344, rs1600789325	19528524
Esophagus neoplasm	Squamous cell carcinoma of esophagus	rs28934578, rs121918714, rs1567556006, rs1575166666	25151357
Vascular leukoencephalopathy	CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1	rs28937321, rs28933696, rs28933697, rs864621964, rs864621965, rs28933698, rs137852641, rs137852642, rs864621966, rs267606915, rs797045014, rs863225297, rs1438626607, rs1285584068, rs1555727942, rs1188569102, rs1323608032, rs1555729451, rs1555729486, rs1174625611, rs775836288, rs1555729604, rs1555730176, rs1555730188, rs1555730189, rs201118034, rs1555729346, rs1568361608, rs200881673, rs1555730197, rs145069047, rs1599382214, rs1202763005, rs764148985, rs769773673, rs762734007, rs1599391536, rs1599394806, rs760768552	11559313, 10227618, 24000151, 22664156, 11102981, 26002683, 10712431, 10371548, 12146805, 15229130, 10802807, 10854111, 9388399, 20935329, 23602593, 11755616, 23847153, 15300988, 12589106, 19252787, 11810186, 15818833, 19245392, 15350543, 19242647, 15378071, 16009764, 25980907, 15364702, 22367839, 12810003, 12136071, 24929957, 16717210, 11784372, 24357685, 21852154, 27350778, 25344745, 24139282, 23649698, 26308724, 11058919, 19528524
Glioblastoma	Glioblastoma, Glioblastoma Multiforme	rs121913500, rs886042842, rs1555138291, rs1558518449, rs1567176006, rs1558650888	21127729
Hearing loss	Conductive hearing loss, Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Hypercalcemia	Hypercalcemia	rs876657376, rs387907322, rs777676129, rs387907323, rs114368325, rs6068812, rs387907324, rs777947329, rs201304511, rs769409705, rs200095793, rs876661338, rs1554095500, rs139763321, rs774432244, rs781367354
Hypertension	Hypertensive disease	rs13306026
Lateral meningocele syndrome	LATERAL MENINGOCELE SYNDROME, Lateral meningocele syndrome	rs796065045, rs869312910, rs773656789, rs869312911, rs869312909, rs1599359239	26754023, 25394726
Leukoencephalopathy	Leukoencephalopathy	rs34757931
Lung carcinoma	Non-Small Cell Lung Carcinoma	rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355, rs121912470, rs121913273, rs121913281, rs121913348, rs727503093, rs121913353, rs397516890, rs397516896, rs121913378, rs397516897, rs397516977, rs397516978, rs397516979, rs397516980, rs397516981, rs397516982, rs121913240, rs17851045, rs397517086, rs121913428, rs397517094, rs397517098, rs397517106, rs121913465, rs397517108, rs397517111, rs397517112, rs397517114, rs397517116, rs1554350366, rs397517127, rs397517200, rs397517202, rs121913283, rs121913370, rs121913357, rs727503106, rs121913238, rs727503108, rs397517040, rs397516976, rs1555618025, rs1057519729, rs1584238193	21994468
Lung cancer	Malignant neoplasm of lung	rs121913530, rs121913529, rs878855122, rs1057519784, rs770315135	17804716
Marfan syndrome	Mammary Carcinoma, Human	rs137854456, rs137854457, rs267606796, rs137854458, rs137854459, rs137854460, rs137854470, rs137854471, rs267606797, rs137854461, rs137854462, rs137854463, rs869025419, rs137854464, rs137854465, rs137854466, rs137854467, rs387906547, rs387906548, rs137854469, rs137854473, rs1131692050, rs112989722, rs137854474, rs137854476, rs140593, rs1555395819, rs137854478, rs137854479, rs137854480, rs137854481, rs137854482, rs137854483, rs137854484, rs137854485, rs112289537, rs193922181, rs193922182, rs193922185, rs140603, rs193922187, rs193922188, rs193921256, rs112660651, rs193922193, rs193922194, rs193922197, rs193922198, rs193922199, rs193922203, rs193922204, rs193922205, rs193922206, rs111401431, rs193922207, rs113871094, rs111671429, rs193922216, rs193922219, rs193922220, rs193922223, rs193922224, rs193922225, rs193922226, rs193922227, rs193922228, rs193922230, rs193922235, rs147195031, rs193922236, rs193922239, rs193922240, rs193922241, rs193922246, rs397514558, rs398122934, rs397515753, rs397515754, rs397515755, rs397515756, rs397515757, rs113812345, rs397515758, rs397515759, rs397515762, rs25403, rs397515765, rs397515766, rs397515767, rs397515768, rs397515769, rs397515770, rs397515771, rs25404, rs397515773, rs397515774, rs397515775, rs397515776, rs397515778, rs397515779, rs397515781, rs112202622, rs397515782, rs397515784, rs397515785, rs397515786, rs397515788, rs397515789, rs397515790, rs397515791, rs397515792, rs397515793, rs397515794, rs397515797, rs397515798, rs397515799, rs397515801, rs397515802, rs397515803, rs397515804, rs397515805, rs397515808, rs397515810, rs397515811, rs397515812, rs111231312, rs267606798, rs397515814, rs113905529, rs397515816, rs397515817, rs397515818, rs397515819, rs397515820, rs363853, rs113249837, rs397515821, rs111929350, rs397515823, rs397515824, rs113086760, rs397515825, rs397515826, rs397515827, rs363807, rs397515828, rs397515829, rs397515830, rs397515831, rs397515833, rs111687884, rs113080385, rs397515834, rs397515836, rs113001196, rs397515840, rs397515845, rs397515846, rs397515847, rs397515848, rs397515851, rs397515852, rs397515853, rs397515854, rs111856492, rs397515859, rs397515861, rs397515863, rs397515864, rs397515865, rs397515866, rs397515867, rs137854855, rs199474693, rs587782944, rs587782947, rs587782948, rs672601352, rs876658120, rs727504651, rs727503054, rs727504315, rs727504411, rs727503057, rs727504454, rs200309328, rs363811, rs727504410, rs363821, rs727504347, rs727505006, rs727505110, rs730880356, rs727505269, rs727503058, rs727504421, rs730880107, rs730880104, rs730880103, rs730880102, rs730880101, rs730880106, rs730880100, rs730880105, rs730880099, rs112645512, rs730880108, rs730880098, rs730880097, rs794728321, rs794728283, rs794728280, rs794728336, rs794728272, rs794728160, rs794728271, rs794728270, rs794728319, rs794728262, rs794728251, rs76702162, rs794728335, rs794728334, rs794728246, rs763091520, rs794728333, rs794728237, rs761857514, rs794728234, rs140630, rs794728231, rs794728228, rs794728225, rs794728308, rs794728216, rs794728221, rs763449629, rs201058219, rs794728210, rs794728208, rs794728206, rs794728199, rs794728195, rs794728194, rs794728193, rs794728190, rs1555399381, rs794728176, rs1555399968, rs113422242, rs794728326, rs794728166, rs794728325, rs794728165, rs794728162, rs794728213, rs869025417, rs112642323, rs869025416, rs869025415, rs869025424, rs869025423, rs869025414, rs869025422, rs869025413, rs869025412, rs869025411, rs869025418, rs869025426, rs869025406, rs869025421, rs869025425, rs869025404, rs869025420, rs869025403, rs398122833, rs876657645, rs878853686, rs878853676, rs886038919, rs886038795, rs187553035, rs886038869, rs886038949, rs886038967, rs886038976, rs886038848, rs886038940, rs886038877, rs886039038, rs886038817, rs886038963, rs886039036, rs886038797, rs886039550, rs886041482, rs1057517855, rs1057518912, rs1057518973, rs1057519502, rs1057521100, rs1057521102, rs1057518881, rs1057520617, rs1057521101, rs1555394445, rs369058466, rs1060501069, rs1060501031, rs778966916, rs1060501043, rs1555397663, rs1060501017, rs1060501094, rs1060501065, rs1555393848, rs1555394151, rs1060501051, rs1060501013, rs1060501054, rs1060501048, rs1060501089, rs1060501039, rs1555398160, rs1060501022, rs1060501024, rs1060501086, rs1060501058, rs1060501036, rs1060501100, rs1060501042, rs1060501059, rs1555397743, rs1060501021, rs1060501027, rs1060501096, rs1060501038, rs1060501050, rs1064794130, rs112118237, rs1064793980, rs1064793118, rs1064793636, rs1064794282, rs1064793559, rs1085307921, rs1085308004, rs1085307468, rs112907302, rs1131691479, rs1131691373, rs1131691467, rs1131691938, rs1131691311, rs1131691806, rs1131691317, rs1555393827, rs363804, rs1555397738, rs1555399144, rs1555400274, rs1555394195, rs1555398836, rs113543334, rs1555399825, rs1555394626, rs1555395256, rs1555395257, rs1555396427, rs1555397548, rs1555398173, rs1555404803, rs1232880706, rs1555393825, rs1555394567, rs1555396998, rs1555394928, rs1555397203, rs112375043, rs1555397720, rs140599, rs1555399150, rs1555400373, rs1555405041, rs1555395229, rs1555397671, rs775417975, rs1555398774, rs1555399368, rs1555394904, rs1555395987, rs1555397424, rs1555398377, rs1555398835, rs1555401011, rs1555405043, rs1555394580, rs1555397404, rs1555398511, rs1555395826, rs1555399372, rs1555399821, rs1555399836, rs1555400063, rs363810, rs1555397655, rs1555395756, rs1555395742, rs1555393844, rs112550005, rs1555395002, rs1555395658, rs765387131, rs1555396429, rs1555396835, rs1555397014, rs1555397016, rs778710767, rs1555397557, rs1555397704, rs140648, rs1555398406, rs1555398681, rs1555399257, rs1555399361, rs1555399764, rs1555405056, rs1555393510, rs1555395980, rs1555396789, rs1555399094, rs1555399378, rs1555399816, rs1555395645, rs371097218, rs1555398278, rs1555394238, rs1555396418, rs1206813753, rs1555399271, rs1555405044, rs113544411, rs1555395663, rs1555397216, rs1555398989, rs1555399149, rs1555401670, rs1555395001, rs1445085747, rs1555393538, rs1555393565, rs1404133653, rs1555394450, rs1555394581, rs1555394633, rs1555394900, rs1555395189, rs1555395261, rs1052480459, rs1555395480, rs1555395670, rs363806, rs1555395820, rs1555396419, rs1555396765, rs1296209846, rs794728233, rs1555396853, rs1555396863, rs1555397197, rs1555397204, rs1555397212, rs1555397713, rs1555397736, rs1555398139, rs1555398144, rs1555398409, rs1555398510, rs1555398520, rs1555398524, rs1555398667, rs1555399089, rs1555399482, rs1555399763, rs1555401002, rs794728323, rs1555393508, rs1555393514, rs1555393525, rs1555393532, rs1555393653, rs1555393657, rs1555393824, rs1555393831, rs112196241, rs1555393847, rs1555393862, rs1555393863, rs1555393866, rs113935744, rs1555393882, rs1555393886, rs1555393889, rs1555394138, rs1555394144, rs1555394146, rs1555394148, rs1555394149, rs1555394152, rs1555394153, rs1555394189, rs1555394197, rs1555394206, rs1555394212, rs1555394218, rs1555394220, rs1555394235, rs1555394245, rs1555394246, rs1057520728, rs1555394390, rs1555394391, rs537570299, rs1555394397, rs1555394398, rs1555394399, rs1555394402, rs1555394407, rs1555394412, rs1555394435, rs1555394436, rs1555394441, rs1555394556, rs1555394557, rs1555394559, rs1555394561, rs1555394570, rs397515844, rs1555394571, rs1555394574, rs1555394579, rs1555394582, rs534811966, rs111588631, rs1555394628, rs1555394629, rs1555394630, rs1555394631, rs1555394641, rs1555394644, rs1555394647, rs1555394756, rs886051245, rs1555394775, rs1555394776, rs1555394777, rs1555394779, rs1555394780, rs1555394783, rs1555394901, rs1555394906, rs1555394925, rs794728253, rs886039158, rs1555395013, rs1555395187, rs1555395188, rs1555395203, rs1555395205, rs363815, rs1246984265, rs794728245, rs1555395263, rs1555395267, rs1555395456, rs1555395475, rs1555395482, rs1555395638, rs1555395641, rs1555395648, rs1555395653, rs1555395659, rs111239111, rs1555395745, rs1555395747, rs1555395753, rs1555395757, rs1555395766, rs1555395767, rs1555395843, rs1555395846, rs1555395849, rs1555395978, rs1555395981, rs1555395984, rs1555395989, rs1555395990, rs1260109901, rs1555396186, rs1555396188, rs1555396198, rs1555396199, rs1555396201, rs1555396202, rs1555396205, rs1555396213, rs1555396424, rs1555396426, rs1555396428, rs1555396435, rs1555396630, rs1555396635, rs1555396636, rs1555396639, rs1555396757, rs1555396769, rs1555396838, rs1555396844, rs140627, rs1555396858, rs1555396990, rs1555396991, rs1555396993, rs769588424, rs1555397022, rs1555397024, rs1555397160, rs1555397174, rs1555397176, rs1555397193, rs1555397209, rs1555397210, rs1555397214, rs1060501076, rs113082854, rs113693945, rs111978932, rs1555397403, rs1555397419, rs1555397420, rs1555397421, rs1555397536, rs1555397537, rs1555397540, rs1555397542, rs1555397543, rs1555397545, rs1555397546, rs1555397670, rs1555397692, rs1555397718, rs1555397723, rs1555397744, rs113393517, rs1555398148, rs1555398152, rs1555398174, rs1555398176, rs1555398179, rs1555398282, rs1555398287, rs1555398380, rs1555398394, rs1555398397, rs1555398401, rs1555398404, rs1555398407, rs1555398413, rs1555398501, rs1555398508, rs1555398512, rs1555398513, rs1555398515, rs1555398521, rs794728205, rs1555398527, rs1555398551, rs1060501075, rs1555398566, rs1555398572, rs1555398580, rs1555398582, rs140597, rs1555398622, rs1555398624, rs1555398625, rs112547596, rs1555398627, rs1555398633, rs1555398637, rs1555398642, rs778867355, rs1555398648, rs1555398659, rs1293095681, rs1060501040, rs987202268, rs1555398672, rs1555398673, rs1555398677, rs1555398793, rs1555398803, rs1555398811, rs1555398826, rs1555398833, rs1555398974, rs1555398981, rs778900586, rs1555398988, rs1555398994, rs1555398995, rs1555398996, rs1555399093, rs869025405, rs1555399101, rs1555399146, rs1555399160, rs1555399162, rs1555399164, rs1555399165, rs1555399193, rs1555399195, rs1555399202, rs1555399204, rs1555399206, rs201778577, rs1555399210, rs1555399214, rs1555399270, rs1555399273, rs1555399281, rs1555399371, rs1555399385, rs1555399477, rs1555399484, rs1555399761, rs1555399775, rs1555399802, rs1555399804, rs1555399837, rs1555399840, rs1555399940, rs1555399944, rs1555399949, rs1555399953, rs1555399954, rs1555399955, rs1555399959, rs1555399962, rs1555399963, rs1060501041, rs1555399974, rs1555399976, rs1555399977, rs1555400049, rs794728172, rs1555400062, rs1555400064, rs1555400066, rs1555400267, rs1555400268, rs1555400278, rs794728168, rs1555400279, rs1156747241, rs1555400288, rs1555400371, rs1555400372, rs1555400379, rs1555400385, rs587782943, rs1555400387, rs1555400406, rs1439533354, rs746201757, rs1555400595, rs1555400603, rs1555400604, rs1555400606, rs1555400609, rs752010116, rs1555400612, rs1555400616, rs1555401004, rs1555401005, rs146348130, rs1555401667, rs1555401671, rs1555401676, rs1555401679, rs1555401687, rs1555401689, rs1555401695, rs1555401697, rs1555401701, rs1555404799, rs1555404800, rs200295020, rs1555404810, rs1555404820, rs1555405031, rs1555405039, rs1555405045, rs1555405530, rs794728292, rs1555405533, rs1555405536, rs1555405537, rs111764111, rs1555405658, rs1555405664, rs774371494, rs1555405673, rs1555407399, rs1555407414, rs1555407423, rs1555407429, rs886041536, rs1555404806, rs1566911709, rs1566913974, rs1566894226, rs1566895223, rs1566897376, rs1566902526, rs1566915277, rs1566897374, rs1566897420, rs1566891655, rs1346043320, rs1566922396, rs1566891706, rs1566894783, rs1566913670, rs1555394196, rs1566891454, rs1566891406, rs1566891404, rs1566895262, rs1566891645, rs1566895225, rs1566896114, rs1566898399, rs1566904011, rs1566906537, rs1566908956, rs1566909766, rs1566919599, rs1566937712, rs1566915335, rs1566891675, rs1566904526, rs1566906506, rs1566900540, rs1566894230, rs1555395206, rs1566891797, rs1597512576, rs1597523873, rs1597581001, rs1597516325, rs1057524757, rs1597506641, rs1597520781, rs1597593695, rs1597529829, rs1597520625, rs1597579923, rs1597531796, rs1008275504, rs1597567249, rs1597569265, rs1597652471, rs1597516347, rs1597577114, rs1597633163, rs1597519658, rs1597593852, rs1597516501, rs1566913982, rs1555393859, rs1597513708, rs368978109, rs1480832655, rs1597520683, rs1597522390, rs1597522553, rs1597529748, rs1597533707, rs1597537815, rs1597545309, rs1597545836, rs1597563234, rs1597563280, rs1597564359, rs772108557, rs1597568968, rs1597574236, rs1597574308, rs1597577975, rs193922179, rs1597581005, rs1597593736, rs1597623670, rs1597625734, rs1597631662, rs113604459, rs1597633183, rs1597633219, rs1597518951, rs1555394781, rs1597525871, rs1597526073, rs1597569159, rs1597569536, rs1597563934, rs1597545199, rs1364210063, rs1597552583, rs1597520619, rs1597540854, rs1597591602, rs1597569551, rs1597548716, rs1597553721, rs112728248, rs1597537858, rs1597517935, rs1597540907, rs1597552388, rs1597591643, rs1597529841, rs1597506547, rs1597509836, rs1597529686, rs1566897404, rs1597533713, rs1597543486, rs1597545257, rs1597545345, rs1597548672, rs1597562812, rs1597563287, rs1597571391, rs1555400052, rs1597583989, rs363852, rs1597547226, rs363808, rs974604498, rs2043595650, rs2043526284, rs2042997306, rs1555397195, rs886039054, rs1555397213, rs2042873946	21036696
Migraine	Migraine Disorders	rs794727411	19528524
Myofibromatosis	Myofibromatosis, Infantile myofibromatosis, MYOFIBROMATOSIS, INFANTILE, 2	rs367543286, rs367543285, rs864309711, rs1554108389, rs1060499543, rs1060499541, rs1060499540	23731542
Patent ductus arteriosus	Patent ductus arteriosus	rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775

Unknown
Disease term	Disease name	Evidence	References	Source
Atherosclerosis	Atherosclerosis			ClinVar
Ischemic stroke	Ischemic stroke			ClinVar
Mental depression	Depressive disorder			ClinVar
Ptosis	Blepharoptosis, Ptosis			ClinVar
Lateral Meningocele Syndrome	lateral meningocele syndrome			GenCC
myofibromatosis	infantile myofibromatosis			GenCC
Pulmonary arterial hypertension	pulmonary arterial hypertension			GenCC
Hypogonadism	Hypogonadism			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Abnormalities Drug Induced	Associate	32732295
Acute Disease	Associate	25959358
Adenocarcinoma	Associate	26261665, 26634853, 27196489, 28061457
Adenocarcinoma Mucinous	Associate	35900231
Adenocarcinoma of Lung	Associate	26977885, 27196489, 35656882, 38335304
Adenocarcinoma of Lung	Stimulate	30732676
Adenomatoid Tumor	Associate	26261665
Agenesis of Corpus Callosum	Associate	11757773, 11846209
AIDS Arteritis Central Nervous System	Associate	10712431, 22082899, 25953367, 31441874, 32106772, 32552418, 33161844, 33712516, 33942994, 35862191, 38105268, 40018934, 40265482
Airway Remodeling	Associate	34769246
Alzheimer Disease	Associate	12754354, 22153900, 29750252, 30924900, 33942994, 34151536, 34551193, 35144616, 36214709, 37598468
Aneurysm	Associate	31886938
Angiomyoma	Associate	36788105, 37889065
Anterior Capsular Rupture Ocular	Associate	31443546
Arachnoid Cysts	Associate	32141180
Arthritis Rheumatoid	Inhibit	26838552
Arthritis Rheumatoid	Associate	37796367
Ascites	Associate	27445438, 32169072
Asthma	Associate	39643224
Astrocytoma	Associate	19424825
Ataxia Telangiectasia	Associate	34980595
Atherosclerosis	Associate	36580209
Atrophy	Associate	37775315
Barrett Esophagus	Inhibit	25558829
Bone Cysts	Associate	30924900
Brain Diseases	Associate	25190493, 25959358, 35641310
Brain Neoplasms	Associate	19424825, 31483290, 37423059
Breast Neoplasms	Associate	19706770, 25881039, 26323259, 26694515, 26704972, 28027327, 28634007, 29109797, 29512753, 31096822, 31770532, 33099573, 34257585, 36139447, 36740988, 38124049
Breast Neoplasms	Inhibit	23610446
CADASIL	Associate	10712431, 10969905, 11032621, 11413271, 11757773, 11846209, 11861701, 12589106, 12754354, 12791811, 12861102, 14714274, 15069251, 15201374, 15605982, 15834039, 15834040, 16107360, 16974063, 17183453, 17629811, 18941948, 19043263, 19174371, 19207299, 21178349, 21345538, 21504125, 21616505, 22006983, 22082899, 22153900, 22367627, 22503071, 22623959, 22669987, 22905984, 23028706, 23355563, 23602593, 23799017, 23799141, 24026140, 24086431, 24277909, 24579972, 24929957, 25098330, 25190493, 25303037, 25394726, 25578324, 25692567, 25870235, 25959358, 25973016, 26216120, 26261665, 26270344, 26308724, 26415933, 27206574, 27725551, 27881154, 28002537, 28469098, 28710804, 28782182, 28921817, 28991717, 29363903, 29414412, 29780132, 30032161, 30170552, 30656190, 30883460, 30924900, 31146726, 31324668, 31443546, 31554780, 31680059, 31901894, 31915071, 31960911, 32122318, 32188464, 32337960, 32344328, 32555735, 32732295, 33678736, 33712516, 33767277, 33939102, 34092645, 34297860, 34558736, 34706522, 35026854, 35074002, 35300531, 35363195, 35409031, 35641310, 35695802, 35699875, 35822697, 35862191, 36086804, 36142458, 36175824, 36254369, 36402400, 36411388, 36470429, 36535904, 36604800, 36869886, 36961171, 37158955, 37209821, 37295172, 37598468, 37982214, 38436192, 39191170, 39743006, 39924233, 39983483, 40018934, 40096922, 40265482, 40319408, 40379656, 40764588, 9974062
Calcinosis Cutis	Associate	32169072
Capillary Malformation Arteriovenous Malformation	Associate	30573741
Carcinogenesis	Inhibit	29109797
Carcinogenesis	Associate	29532409, 30381359, 33452458, 37342066
Carcinoid Tumor	Associate	33444514
Carcinoma Ductal Breast	Associate	18060036, 25881039
Carcinoma Hepatocellular	Associate	16827154, 23468978, 23836039, 25645722, 25668819, 26420065, 28423575, 28568708, 30636370, 32311840, 35534193
Carcinoma Intraductal Noninfiltrating	Associate	28634007
Carcinoma Non Small Cell Lung	Associate	19398556, 21502811, 24367688, 25171754, 28061457, 28769027, 29781034, 33219226
Carcinoma Non Small Cell Lung	Stimulate	28968839
Carcinoma Ovarian Epithelial	Associate	25169943
Carcinoma Ovarian Epithelial	Stimulate	27445438
Carcinoma Pancreatic Ductal	Associate	23492684
Carcinoma Renal Cell	Associate	26261665
Carcinoma Small Cell	Associate	28951314, 33980813
Carcinoma Squamous Cell	Associate	32649944
Carotid Artery Injuries	Associate	25870235
Cataract Age Related Nuclear	Associate	36987450
Cerebral Hemorrhage	Associate	30656190, 31443546, 34344799, 36580209, 37775315, 40067051
Cerebral Infarction	Associate	22006983, 22082899, 24086431, 27770607, 29363903, 30656190, 31441874, 32106772, 32552418, 32929895, 33161844, 33712516, 33942994, 35862191, 36300346, 37982214, 38105268, 40018934, 40265482
Cerebral Palsy	Associate	25692567, 32552418, 33678736, 33712516, 35300531, 35862191
Cerebral Small Vessel Diseases	Associate	22006983, 24086431, 28782182, 30032161, 30656190, 30859180, 31719132, 31901894, 32732295, 32929895, 33161844, 33268848, 34297860, 35074002, 35300531, 35862191, 36175824, 36261288, 36300346, 36470429, 36535904, 36580209, 36869886, 37775315, 39191170, 40265482, 40764588
Cerebrovascular Disorders	Associate	11861701, 32929895, 34558736, 35409031, 36604800
Chemical and Drug Induced Liver Injury	Associate	34750395
Cholangiocarcinoma	Associate	24839005, 25031748, 31211856
Chondrosarcoma	Associate	21156405
Cognition Disorders	Associate	26216120, 26308724, 28710804, 30924900, 31441874, 31554780, 32122318, 32552418, 33161844, 33268848, 33678736, 37982214
Colonic Neoplasms	Associate	36647017
Colorectal Neoplasms	Associate	24244701, 28281965, 29458332, 32343052, 34257585, 35798829, 35900231, 36647017, 36672162, 37189003
Colorectal Neoplasms	Stimulate	32852523
Colorectal Neoplasms Hereditary Nonpolyposis	Associate	29458332
COVID 19	Associate	39924233
Cushing's symphalangism	Associate	25870235
Death	Associate	28568708
Dementia	Associate	10712431, 19043263, 29750252, 30530974, 31680059, 31836585, 31960911, 33061333, 33161844, 33712516, 35144616, 37598468, 39191170
Dementia Vascular	Associate	11757773, 31680059, 33712516, 33942994, 34092645, 36300346, 40265482, 40764588
Depressive Disorder	Associate	19043263
Diabetes Mellitus	Associate	35862191, 36815184
Diabetes Mellitus Type 2	Associate	34706522
Diabetic Nephropathies	Stimulate	22629296
Diffuse Neurofibrillary Tangles with Calcification	Associate	12754354
Disease	Associate	22082899
Dizziness	Associate	25098330
Drug Related Side Effects and Adverse Reactions	Associate	27165605
Dry Eye Syndromes	Associate	19011014
Dyskinesia Drug Induced	Stimulate	31096822
Encephalocele	Associate	32141180
Endocrine System Diseases	Associate	36214709
Endometrial Neoplasms	Associate	30521558
Endometriosis	Associate	33029756
Epilepsy Temporal Lobe	Associate	22006983
Epstein Barr Virus Infections	Associate	33297669
Esophageal Squamous Cell Carcinoma	Associate	35899307
Familial vascular leukoencephalopathy	Associate	25870235, 35026854
Fibromatosis Congenital Generalized	Associate	23731542
Fibrosis	Associate	35611804
Gait Disorders Neurologic	Associate	26261665
Gallbladder Neoplasms	Associate	26634853
Genetic Diseases Inborn	Associate	15201374, 22905984, 23355563, 23602593, 28002537, 33161844, 36470429, 9974062
Glioblastoma	Associate	26662803
Glioma	Associate	24143218, 25738469, 29659670
Glomus Tumor	Associate	36788105
Glucose Metabolism Disorders	Associate	34706522
Granular Cell Tumor	Associate	23799017
Hajdu Cheney Syndrome	Associate	25394726
Headache	Associate	39191170
Heart Diseases	Associate	27770607, 35611804
HEM dysplasia	Associate	27941324
Hemangioma	Associate	27941324
Hemangioma capillary infantile	Associate	20069356
Hemiplegia	Associate	26261665
Hemoglobin SC Disease	Associate	26634853
Hemorrhage	Associate	30656190
Hemorrhagic Stroke	Associate	25692567, 31443546, 39271666
Hepatitis Chronic	Stimulate	22493555
Hereditary Breast and Ovarian Cancer Syndrome	Associate	22396495
Hereditary leiomyomatosis and renal cell cancer	Associate	32191807
Hippocampal Sclerosis	Associate	37982214
Hypercholesterolemia	Associate	36254369
Hyperglycemia	Associate	40018934
Hypertension	Associate	22006983, 25692567, 25953367, 34706522, 35862191
Hypoxia	Associate	18060036
Hypoxia	Stimulate	23729168
Infarction	Associate	12754354, 25959358
Inflammation	Associate	35611804, 37158955
Inflammatory Breast Neoplasms	Associate	28270211
Intracranial Aneurysm	Associate	31339861
Intracranial Hemorrhages	Associate	22082899, 36604800
Ischemic Attack Transient	Associate	11757773, 18941948, 32929895
Ischemic Stroke	Associate	40379656
Kidney Diseases	Associate	35611804
Lateral meningocele syndrome	Associate	25394726, 32141180
Leiomyosarcoma	Associate	35682660
Leukemia	Associate	19835636
Leukemia B Cell	Associate	23637910
Leukemia Lymphocytic Chronic B Cell	Associate	32570839
Leukemia Prolymphocytic T Cell	Associate	23278106
Leukoencephalopathies	Associate	22006983, 22082899, 24579972, 25870235, 25953367, 25959358, 26270344, 26308724, 28334938, 31441874, 31960911, 32106772, 32552418, 32732295, 32929895, 33161844, 33712516, 33942994, 34297860, 34344799, 35862191, 36380532, 36535904, 36961171, 37237429, 37598468, 37775315, 37982214, 38105268, 39191170, 39271666
Leukomalacia Periventricular	Associate	39191170
Liver Cirrhosis	Associate	22493555, 34750395
Liver Failure	Stimulate	22493555
Lung Diseases	Associate	32185220
Lung Neoplasms	Associate	20068176, 25125655, 26472724
Lymphatic Metastasis	Stimulate	23836039, 32852523
Lymphatic Metastasis	Associate	26634853
Lymphohistiocytosis Hemophagocytic	Associate	38183241
Lymphoma Large B Cell Diffuse	Associate	30674940
Lymphoma Non Hodgkin	Associate	20671266
Malocclusion Angle Class III	Associate	34039391
Marfan Syndrome	Associate	31886938
Medulloblastoma	Associate	19424825
Melanoma	Inhibit	23610446
Melanoma	Associate	33748290
Mental Disorders	Associate	31554780, 37598468
Migraine Disorders	Associate	24026140, 24579972, 31554780
Migraine with Aura	Associate	28710804, 31324668, 32337960
Mouth Neoplasms	Associate	26261665
Mucopolysaccharidoses	Associate	35456399
Multiple Sclerosis	Associate	18941948
Muscle Spasticity	Associate	39191170
Myocardial Infarction	Associate	12861102
Myocardial Ischemia	Associate	12861102, 15605982, 36254369
Myofibroma	Associate	36788105
Myofibromatosis	Associate	36788105
Myopathies Structural Congenital	Associate	33748290
Myopericytoma	Associate	36788105
Nasopharyngeal Carcinoma	Associate	30341249, 37563118, 37853162
Necrosis	Associate	36970890
Neoplasm Invasiveness	Associate	23468978
Neoplasm Metastasis	Stimulate	20624166, 26634853
Neoplasm Metastasis	Associate	23468978, 25957329, 32852523, 33099573, 35534193, 36882514, 36946271, 37853162
Neoplasm Metastasis	Inhibit	29109797, 38124049
Neoplasms	Stimulate	20030805, 23836039, 28568708, 35001007
Neoplasms	Associate	20068176, 20624166, 20671266, 21156405, 21922151, 22773520, 23060121, 23226563, 23409141, 24143218, 24905589, 24984200, 25171754, 25645722, 25668819, 25738469, 25957329, 26472724, 26634853, 26873401, 26880586, 26977885, 27102435, 27124156, 27445438, 29781034, 30565428, 31199602, 31347292, 32570839, 32652895, 32852523, 32949309, 33099573, 33219226, 34014970, 34095881, 35073251, 36647017, 36788105, 36946271, 36970890, 37189003, 37460928, 38124049, 38201285, 38335304
Neoplasms	Inhibit	23610446, 31770532
Neoplasms Adipose Tissue	Associate	36617688
Neoplasms Cystic Mucinous and Serous	Stimulate	20624166
Neurodegenerative Diseases	Associate	31580390, 36362122
Obesity	Associate	36617688
Odontogenic Tumor Squamous	Associate	20554499
Osteosarcoma	Associate	28259906, 36946271
Otitis Media	Associate	39924233
Ovarian Neoplasms	Associate	18632624, 18974129, 20624166, 20671266, 22188785, 22396495, 25010594, 25169943, 25807436, 26662955, 28415574, 30565428, 32169072, 33432021, 36982928, 37342066, 37628927, 37796700
Pancreatic Neoplasms	Associate	23226563, 23492684
Parkinson Disease Secondary	Associate	26216120
Persistent Fetal Circulation Syndrome	Associate	31382961, 34678164
Plasmablastic Lymphoma	Associate	33297669
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	Associate	30924900
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	23637910, 24984200
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	19835636, 23975424, 24984200
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Stimulate	29023469
Prostatic Intraepithelial Neoplasia	Associate	26341090
Prostatic Neoplasms	Associate	21703393, 23729168, 24505114, 31758038, 36613831
Prostatic Neoplasms	Stimulate	25864518
Proteinuria	Associate	35611804
Pulmonary Disease Chronic Obstructive	Associate	29874112, 33444514
Retinoblastoma	Associate	27661116
Rhabdomyosarcoma	Associate	24797362
Scleroderma Diffuse	Associate	32185220
Scleroderma Systemic	Associate	32185220
Seizures	Associate	26261665, 29363903
Small Cell Lung Carcinoma	Associate	31199602, 35596192
Smooth Muscle Tumor	Associate	23028706, 23799017
Sneddon Syndrome	Associate	32980981
Snowflake vitreoretinal degeneration	Associate	36535904
Squamous Cell Carcinoma of Head and Neck	Associate	24351288, 27124156, 29146722, 31093971
Stomach Neoplasms	Associate	27363496, 30873760, 34925644, 35421138
Stomach Neoplasms	Stimulate	32028262, 33452458
Stroke	Associate	10712431, 19043263, 22006983, 24026140, 24086431, 25692567, 30656190, 31554780, 31680059, 32106772, 32929895, 32980981, 33161844, 33712516, 35641310, 35862191, 36300346, 36535904, 36580209, 37598468, 39191170, 39271666, 40265482, 40379656, 40764588
Stroke Lacunar	Associate	22006983, 31719132, 36261288
Syncope	Associate	22082899
Tertiary Lymphoid Structures	Stimulate	20624166
Thalamic Diseases	Associate	40319408
Thyroid Cancer Papillary	Associate	31324198
Trigeminal Neuralgia	Associate	38436192
Triple Negative Breast Neoplasms	Inhibit	31770532
Tuberculosis Multidrug Resistant	Associate	29512753
Urinary Bladder Neoplasms	Associate	35073251
Uterine Cervical Neoplasms	Associate	24905589, 29532409
Vascular Calcification	Associate	21920521
Vascular Diseases	Associate	34199176
Vasculopathy Retinal With Cerebral Leukodystrophy	Associate	23602593
Vision Disorders	Associate	40319408
Wilms Tumor	Associate	30530967