NOTCH3 (notch receptor 3)

Gene

• Entrez ID: 4854
• Gene name: Notch receptor 3
• Gene symbol: NOTCH3
• Synonyms (NCBI Gene): CADASIL, CADASIL1, CASIL, 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:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000139	Component	Golgi membrane	IEA
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	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	15350543
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0007219	Process	Notch signaling pathway	IBA
GO:0007219	Process	Notch signaling pathway	IEA
GO:0007411	Process	Axon guidance	IBA
GO:0009986	Component	Cell surface	IBA
GO:0014016	Process	Neuroblast differentiation	IEA
GO:0016020	Component	Membrane	IEA
GO:0019899	Function	Enzyme binding	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030182	Process	Neuron differentiation	IEA
GO:0030900	Process	Forebrain development	IEA
GO:0038023	Function	Signaling receptor activity	IEA
GO:0038023	Function	Signaling receptor activity	IMP	15350543
GO:0042802	Function	Identical protein binding	IPI	26051713
GO:0043235	Component	Receptor complex	IBA
GO:0043235	Component	Receptor complex	IDA	23382219
GO:0043235	Component	Receptor complex	IEA
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0045596	Process	Negative regulation of cell differentiation	IEA
GO:0045665	Process	Negative regulation of neuron differentiation	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0048661	Process	Positive regulation of smooth muscle cell proliferation	IEA
GO:0048663	Process	Neuron fate commitment	IEA
GO:0048844	Process	Artery morphogenesis	IEA
GO:0050793	Process	Regulation of developmental process	IEA
GO:0072104	Process	Glomerular capillary formation	IEA
GO:1902895	Process	Positive regulation of miRNA transcription	IEA
GO:1902895	Process	Positive regulation of miRNA transcription	IMP	25323858

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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormal brain morphology	Likely pathogenic	rs1555728965	RCV000626689	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormal cerebral white matter morphology	Likely pathogenic	rs1599391938	RCV001003545	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Adams-Oliver syndrome 5	Likely pathogenic; Pathogenic	rs1555730176	RCV005863182	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Adult onset neurodegenerative disorder	Pathogenic	rs28933696	RCV005859325	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Auditory neuropathy	Likely pathogenic	rs1328784046, rs2285981	RCV003484418 RCV003484484	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebral arterial disease	Likely pathogenic; Pathogenic	rs1064794216	RCV005625625	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy	Pathogenic; Likely pathogenic	rs2145439777, rs2145440883, rs2145441541, rs754554486, rs2145443452, rs775267348, rs1555730189, rs1555730197, rs201118034, rs1568361818, rs769773673, rs2046933681, rs1317994194	RCV001374645 RCV003493863 RCV003315261 RCV006255206 RCV004771810 RCV001374652 RCV002508218 RCV001787101 RCV001805784 RCV001175252 RCV001800913 RCV001175251 RCV005411702	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	Likely pathogenic; Pathogenic	rs2145440883, rs2145441707, rs2145434841, rs2145434878, rs2145433361, rs754554486, rs1555730176, rs1263780227, rs2145433195, rs151016108, rs2046837806, rs2145422675, rs2512666971, rs1396345163, rs2512665125, rs1568361985, rs2512657457, rs2512644040, rs2512666442, rs1599391986, rs2046836692, rs797045014, rs863225297, rs28937321, rs28933696, rs28933697, rs864621964, rs864621965, rs28933698, rs137852641, rs137852642, rs864621966, rs267606915, rs2512657786, rs1555730187, rs2512636728, rs2512609711, rs2047007480, rs2046931673, rs2512665717, rs1555729486, rs777751303, rs1555727841, rs1438626607, rs1167405466, rs1555727942, rs1188569102, rs75068032, rs1323608032, rs1555729451, rs775267348, rs1236699193, rs1174625611, rs773539041, rs1555729554, rs775836288, rs1555729604, rs1555730188, rs1555730189, rs193921045, rs1555730204, rs201118034, rs1555729346, rs1568361608, rs200881673, rs1555730197, rs145069047, rs1599389393, rs1599382214, rs1202763005, rs769773673, rs1599391536, rs1599394806, rs1555729589, rs760768552, rs2046897246, rs2046827455, rs2046843049, rs1555729405, rs1241704923, rs2046932414, rs2046934971, rs2046897026, rs2046928618, rs2046935167	RCV001527395 RCV001724775 RCV001726685 RCV001807898 RCV001808166 RCV001824198 RCV002291003 RCV005863647 RCV002225148 RCV002251009 RCV002288360 RCV002289347 RCV002289428 RCV002289509 RCV002290164 RCV002290313 RCV002466886 RCV002471944 RCV002508365 RCV002512433 RCV002512434 RCV002512510 RCV000190514 RCV000201951 RCV000009799 RCV000009800 RCV000009801 RCV000009802 RCV000009803 RCV000009804 RCV000009805 RCV000009806 RCV000009807 RCV000009809 RCV003227557 RCV003326718 RCV003314326 RCV003492868 RCV003397214 RCV004011415 RCV003990117 RCV004017181 RCV000763036 RCV000763035 RCV001197703 RCV001800727 RCV000845265 RCV002289702 RCV000763037 RCV000761306 RCV001089754 RCV000763039 RCV005407670 RCV000763040 RCV001089753 RCV005901139 RCV005411468 RCV000990179 RCV000760969 RCV001253000 RCV000990180 RCV001253276 RCV005901138 RCV005431723 RCV000763038 RCV001198060 RCV003106028 RCV000999641 RCV002485786 RCV000779253 RCV005622846 RCV000990176 RCV000990178 RCV004594237 RCV000999638 RCV000999635 RCV005029563 RCV005411258 RCV001196563 RCV001248779 RCV001253081 RCV001253117 RCV001253387 RCV002051718 RCV002051716 RCV002051717 RCV005860207 RCV002512149 RCV003152759 RCV005601731	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1	Likely pathogenic	rs2047007480	RCV005628162	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Depression	Likely pathogenic	rs1599391986	RCV001003546	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ischemic stroke	Pathogenic	rs797045014	RCV000626690	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lateral meningocele syndrome	Likely pathogenic; Pathogenic	rs1263780227, rs2512609739, rs2512644040, rs796065045, rs797045014, rs869312910, rs773656789, rs869312911, rs869312909, rs28933696, rs137852642, rs2512609711, rs2046931673, rs777751303, rs1555727841, rs1167405466, rs75068032, rs775267348, rs1236699193, rs1174625611, rs1555730189, rs201118034, rs1555730197, rs1599359239, rs1555729589, rs760768552	RCV005863647 RCV002470252 RCV002508365 RCV000190331 RCV004796085 RCV000210475 RCV000210463 RCV000210457 RCV000210456 RCV002482849 RCV003996082 RCV003492868 RCV004011415 RCV000763036 RCV000763035 RCV001800727 RCV000763037 RCV000763039 RCV000763040 RCV002497000 RCV004796220 RCV000763038 RCV002485786 RCV000856798 RCV005029563 RCV005411258	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Migraine	Likely pathogenic	rs1555728965	RCV000626689	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Migraine with aura	Likely pathogenic	rs1599391938, rs1599391986	RCV001003545 RCV001003546	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Migraine without aura	Pathogenic	rs28933696	RCV001003548	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myofibromatosis, infantile, 1	Pathogenic	rs367543285	RCV000049572	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myofibromatosis, infantile, 2	Likely pathogenic; Pathogenic	rs1263780227, rs797045014, rs28933696, rs137852642, rs2512609711, rs2046931673, rs777751303, rs1555727841, rs1167405466, rs75068032, rs775267348, rs1236699193, rs1174625611, rs1555730189, rs201118034, rs1555730197, rs367543285, rs1555729589	RCV005863647 RCV004796085 RCV002482849 RCV003996082 RCV003492868 RCV004011415 RCV000763036 RCV000763035 RCV001800727 RCV000763037 RCV000763039 RCV000763040 RCV002497000 RCV004796220 RCV000763038 RCV002485786 RCV000049266 RCV005029563	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NOTCH3-related disorder	Pathogenic; Likely pathogenic	rs2046937845, rs754554486, rs1555730176, rs2145437046, rs28933696, rs28933697, rs137852641, rs137852642, rs2512623887, rs1328784046, rs1555727938, rs1555727841, rs1167405466, rs1555727944, rs75068032, rs947976672, rs1555729452, rs775267348, rs1555729486, rs1174625611, rs773539041, rs775836288, rs1023306013, rs1568361851, rs769773673, rs1599394654, rs760768552, rs2046925963	RCV004738356 RCV004529021 RCV004536389 RCV004728882 RCV004532317 RCV004737144 RCV002271367 RCV004532318 RCV004538994 RCV004536709 RCV004738746 RCV004737590 RCV004737589 RCV004527619 RCV004537851 RCV004527622 RCV004527621 RCV004737591 RCV004527620 RCV004537854 RCV003317251 RCV004537853 RCV004737588 RCV004535761 RCV004536035 RCV004726770 RCV004738158 RCV004727046 RCV004727078	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Progressive psychomotor deterioration	Likely pathogenic	rs1599387121	RCV001003544	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Prostate cancer	Pathogenic	rs193921045	RCV000149001	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Recurrent subcortical infarcts	Likely pathogenic; Pathogenic	rs137852642	RCV000415016	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sneddon syndrome	Likely pathogenic; Pathogenic	rs1263780227, rs1555727841	RCV005863647 RCV002508219	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Stroke disorder	Pathogenic; Likely pathogenic	rs28933696, rs1568362252, rs1599391986	RCV001003548 RCV001003549 RCV001003546	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tension-type headache	Likely pathogenic	rs1555728965	RCV000626689	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Transient ischemic attack	Pathogenic; Likely pathogenic	rs797045014, rs1555728965	RCV000626690 RCV000626689	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Vascular dementia	Pathogenic	rs1555729584	RCV001263184	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTISM SPECTRUM DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast ductal adenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CADASIL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CADASIL SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, NON-SMALL-CELL LUNG	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, PANCREATIC DUCTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, SQUAMOUS CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL AUTOSOMAL DOMINANT ARTERIOPATHY-SUBCORTICAL INFARCTS-LEUKOENCEPHALOPATHY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral cavernous malformation	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral small vessel disease	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBROVASCULAR ACCIDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMMON MIGRAINE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA, VASCULAR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL SQUAMOUS CELL CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma susceptibility 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOGONADISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTRACEREBRAL HEMORRHAGE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasm	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary arterial hypertension	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	ClinVar ClinGen, Disgenet ClinGen, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vascular parkinsonism	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	31346528		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	20359736, 23645556, 26838758, 28061457		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	26977885, 28607605, 30732676		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	28915655		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	31346528		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	30674940		★☆☆☆☆ Found in Text Mining only
Agenesis of Corpus Callosum	Corpus callosum agenesis	Pubtator	11757773, 11846209	Associate	★☆☆☆☆ Found in Text Mining only
AICARDI-GOUTIERES SYNDROME	Aicardi Goutieres Syndrome	BEFREE	15307138		★☆☆☆☆ Found in Text Mining only
Alagille Syndrome	Alagille Syndrome	BEFREE	10075489, 14988924		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	12754354, 22153900, 29750252, 30924900, 33942994, 34151536, 34551193, 35144616, 36214709, 37598468	Associate	★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	BEFREE	20337864		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	27861750		★☆☆☆☆ Found in Text Mining only
Aneurysm	Aneurysm	Pubtator	31886938	Associate	★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	26279302, 29304760, 29896227		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	22310065		★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	BEFREE	15851739		★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arachnoid Cysts	Arachnoid cysts	Pubtator	32141180	Associate	★☆☆☆☆ Found in Text Mining only
Arachnoid Cysts	Arachnoid cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arnold Chiari Malformation	Arnold-Chiari malformation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arnold-Chiari Malformation, Type I	Arnold-Chiari malformation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	26838552	Inhibit	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	37796367	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	39643224	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	19424825	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	34980595	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	36580209	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	BEFREE	18948701		★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	37775315	Associate	★☆☆☆☆ Found in Text Mining only
AURAL ATRESIA, CONGENITAL	Aural Atresia, Congenital	BEFREE	18176893, 22137428		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	25412914		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	25558829		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	25558829	Inhibit	★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	20624166		★☆☆☆☆ Found in Text Mining only
Benign neoplasm of central nervous system	Benign Neoplasm Of Nervous System	HPO_DG			★☆☆☆☆ Found in Text Mining only
Binswanger Disease	Binswanger Disease	BEFREE	10637940, 10818518, 25239393		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	12210282		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	BEFREE	12210282		★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	25190493, 25959358, 35641310	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	19424825, 31483290, 37423059	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	17158237, 18184405, 18339869, 23610446, 23928992, 26694515, 29027990, 29109797, 29512753, 30100605, 30119050, 30180881, 30502484, 31770532		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	21036696		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19706770, 25881039, 26323259, 26694515, 26704972, 28027327, 28634007, 29109797, 29512753, 31096822, 31770532, 33099573, 34257585, 36139447, 36740988, 38124049	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	23610446	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	12210282		★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
CADASIL	Cadasil	Pubtator	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	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CADASIL Syndrome	CADASIL Syndrome	BEFREE	10075489, 10371548, 10476042, 10609671, 10712431, 10802804, 10818516, 10818518, 11244211, 11413271, 11486103, 11535004, 11559313, 11591842, 11706120, 11715067, 11718749, 11755616, 11784372, 11846209, 11901236, 11901241, 11909813, 12126955, 12136071, 12146805, 12417361, 12482954, 12507916, 12589106, 12597610, 12754354, 12756134, 12771575, 12810003, 12861102, 14667809, 14714274, 14767686, 15069251, 15096408, 15143298, 15210536, 15265274, 15304596, 15350543, 15364702, 15537516, 15605982, 15694192, 15834039, 15834040, 15851739, 15876982, 15995828, 16009764, 16107360, 16111703, 16256149, 16263847, 16426270, 16492242, 16508299, 16580020, 16717210, 16730748, 16796587, 16807713, 16833024, 16833034, 16864835, 16871402, 16949066, 17008611, 17235124, 17239802, 17272761, 17276737, 17390743, 17629811, 17729386, 17878719, 17996090, 18572291, 18626519, 18758477, 18941948, 19139365, 19167727, 19174371, 19180562, 19207299, 19242647, 19293235, 19417009, 19488673, 19539236, 19542611, 19576955, 20038773, 20071773, 20143106, 20197270, 20876488, 20888320, 20935329, 21038489, 21045164, 21078731, 21217157, 21409506, 21504125, 21555590, 21616505, 21628316, 21852154, 22079830, 22113147, 22133740, 22137428, 22153900, 22159056, 22292737, 22306179, 22373597, 22623959, 22664156, 22936449, 22948298, 22996955, 23025651, 23028706, 23151434, 23319290, 23465844, 23572112, 23587639, 23602593, 23635925, 23649698, 23720232, 23799017, 23864274, 24000151, 24086431, 24139282, 24277909, 24480794, 24579972, 24816653, 25096610, 25098330, 25105908, 25109394, 25190493, 25260852, 25344745, 25412914, 25578324, 25595846, 25604251, 25623805, 25692567, 25870235, 25929831, 25959358, 25980907, 25982499, 26002683, 26216120, 26261665, 26270344, 26308724, 26715087, 26850715, 27174004, 27206574, 27241575, 27375140, 27423596, 27781952, 27881154, 28271496, 28293466, 28341077, 28469098, 28601945, 28608406, 28698285, 28710804, 28867359, 28921817, 29363903, 29406155, 29414412, 29500468, 29600389, 29700822, 29706439, 29767458, 29801872, 29802397, 29807146, 29871518, 29980472, 30032161, 30170552, 30237574, 30311053, 30392756, 30445028, 30545719, 30692550, 30778920, 30855338, 30883460, 30956055, 30993645, 31146726, 31212292, 31324668, 31488796, 31502763, 31598433, 31647781, 31680059, 31699577, 31720972, 31753008, 31813735, 8878478, 9329692, 9388399, 9808243, 9877528		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CADASIL Syndrome	CADASIL Syndrome	LHGDN	12810003, 15378071, 15694192, 16717210, 16796587, 16807713, 16998728, 17331978, 17390743, 17690848, 17853970, 17878719, 18941948, 19056668		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CADASIL Syndrome	CADASIL Syndrome	CLINVAR_DG	9388399		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CADASIL Syndrome	CADASIL Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CADASILM	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy and migraine	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Calcium pyrophosphate deposition disease	Chondrocalcinosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	29109797	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	29532409, 30381359, 33452458, 37342066	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoid Tumor	Carcinoid tumor	Pubtator	33444514	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	20359736, 20624166, 20953350, 23060121		★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal Breast	Ductal carcinoma of breast	Pubtator	18060036, 25881039	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	16827154, 23468978, 23836039, 25645722, 25668819, 26420065, 28423575, 28568708, 30636370, 32311840, 35534193	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	28634007	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	17804716, 20068176, 21994468, 26838758, 30806291		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	25169943	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	27445438	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	23492684	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	26261665	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	28951314, 33980813	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	32649944	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	16778208, 18974129, 22396495, 23010708, 24743243, 25169943, 25356737, 27445438, 30420565, 30565428, 30723507		★☆☆☆☆ Found in Text Mining only
Carcinoma, Pancreatic Ductal	Pancreatic Ductal Carcinoma	CTD_human_DG	19208345		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	10818518, 11861701		★☆☆☆☆ Found in Text Mining only
Cerebral Amyloid Angiopathy	Cerebral amyloid angiopathy	BEFREE	12146802, 18176893		★☆☆☆☆ Found in Text Mining only
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1	Vascular leukoencephalopathy	UNIPROT_DG	10227618, 10371548, 10802807, 10854111, 11058919, 11102981, 11559313, 11755616, 11810186, 12136071, 12146805, 12589106, 12810003, 15229130, 15300988, 15350543, 15364702, 15378071, 15818833, 16009764, 24000151, 9388399		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1	Vascular leukoencephalopathy	CLINVAR_DG	10371548, 10712431, 11755616, 11784372, 12146805, 15378071, 16717210, 19242647, 19245392, 19252787, 20935329, 21852154, 22367839, 22664156, 23602593, 23649698, 23847153, 24139282, 24929957, 25344745, 25980907, 26002683, 26308724, 27350778		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1	Vascular leukoencephalopathy	GENOMICS_ENGLAND_DG	19528524, 24357685		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Hemorrhage	Cerebral hemorrhage	Pubtator	30656190, 31443546, 34344799, 36580209, 37775315, 40067051	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral hemorrhage with amyloidosis, hereditary, Dutch type	Cerebral Amyloid Angiopathy	BEFREE	24274803		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	22006983, 22082899, 24086431, 27770607, 29363903, 30656190, 31441874, 32106772, 32552418, 32929895, 33161844, 33712516, 33942994, 35862191, 36300346, 37982214, 38105268, 40018934, 40265482	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	27241575, 27370894		★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	Pubtator	25692567, 32552418, 33678736, 33712516, 35300531, 35862191	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Small Vessel Diseases	Cerebral Microangiopathy	BEFREE	12511775, 18273901, 19488673, 21217157, 21555590, 22006983, 25109394, 25578324, 25953367, 26912635, 29478611, 29706439, 30859180, 31667734		★☆☆☆☆ Found in Text Mining only
Cerebral Small Vessel Diseases	Cerebral microangiopathy	Pubtator	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	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	10712431, 10716263, 11706120, 12126955, 12136071, 12756134, 16009764, 16111703, 16191212, 16833024, 16877080, 17272761, 18022198, 18483410, 18537053, 19683925, 20038773, 21038489, 21058051, 21555590, 21852154, 22033996, 23028706, 24035425, 24840674, 25604251, 25819272, 26912635, 27174004, 29754932, 29931596, 30032161, 31502763, 8878478, 9329692, 9371916		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrovascular accident	Stroke	GENOMICS_ENGLAND_DG	19528524		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrovascular accident	Stroke	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrovascular accident	Stroke	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	11861701, 15995828, 18537053, 18626519, 19006080, 21616505, 25096610, 25260852, 28271496, 29801872		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular disorder	Pubtator	11861701, 32929895, 34558736, 35409031, 36604800	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular Occlusion	Cerebrovascular Occlusion	BEFREE	28987197		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	20359736, 29532409		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	20359736, 29532409		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	31346528		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	24839005, 25031748, 31211856	Associate	★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	27791012, 31843982		★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	BEFREE	15307138		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	Pubtator	21156405	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	29751972		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	23278106		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	29991510		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	17696940		★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	17690848, 31524338		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	26216120, 26308724, 28710804, 30924900, 31441874, 31554780, 32122318, 32552418, 33161844, 33268848, 33678736, 37982214	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	27460529		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	36647017	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	18184405, 24525742, 25607234, 29254197		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	24244701		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24244701, 28281965, 29458332, 32343052, 34257585, 35798829, 35900231, 36647017, 36672162, 37189003	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32852523	Stimulate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms Hereditary Nonpolyposis	Lynch syndrome	Pubtator	29458332	Associate	★☆☆☆☆ Found in Text Mining only
Common Migraine	Common Migraine	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital anomaly of the kidney	Multicystic renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	BEFREE	26563570		★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	31843982		★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital meningocele	Congenital Meningocele	BEFREE	31188489		★☆☆☆☆ Found in Text Mining only
Congenital meningocele	Congenital Meningocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	21518968		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	11072240		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	12861102, 28131704		★☆☆☆☆ Found in Text Mining only
Cranial nerve palsies	Cranial Nerve Paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cushing's symphalangism	Proximal symphalangism	Pubtator	25870235	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	11678296		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	10712431, 10716263, 11718749, 12126955, 12417361, 15350543, 16807713, 16877080, 18483410, 22033996, 23720232, 24378989, 24844136, 26527064, 27174004, 28271496, 28912283, 8878478, 8954801		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	10712431, 19043263, 29750252, 30530974, 31680059, 31836585, 31960911, 33061333, 33161844, 33712516, 35144616, 37598468, 39191170	Associate	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	GENOMICS_ENGLAND_DG	19528524		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia Vascular	Vascular dementia	Pubtator	11757773, 31680059, 33712516, 33942994, 34092645, 36300346, 40265482, 40764588	Associate	★☆☆☆☆ Found in Text Mining only
Dementia, Vascular	Dementia	BEFREE	10637940, 10818518, 11102981, 11706120, 11901241, 12482954, 16256149, 17008611, 18537053, 21555590, 23587639, 25604251, 26912635, 29478611, 29871518, 29931596, 30954774, 31376480, 31680059		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Disorder	Major depressive disorder	Pubtator	19043263	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Development Disorder	BEFREE	10075489, 14988924		★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	27988406, 30347392		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	27988406, 30347392		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	35862191, 36815184	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	34706522	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	21103979		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	22629296	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	21103979		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	30674940		★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry eye syndrome	Pubtator	19011014	Associate	★☆☆☆☆ Found in Text Mining only
Ductal Breast Carcinoma	Breast Carcinoma	BEFREE	18060036		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Encephalocele	Encephalocele	Pubtator	32141180	Associate	★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	19528524		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	25959358		★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine system disease	Pubtator	36214709	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	30521558		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	30521558	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	33029756	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Temporal Lobe	Temporal lobe epilepsy	Pubtator	22006983	Associate	★☆☆☆☆ Found in Text Mining only
Episodic Kinesigenic Dyskinesia 1	Episodic Kinesigenic Dyskinesia	BEFREE	29463793		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	25169943, 27445438		★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	15867348		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	35899307	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	BEFREE	17349661, 21951372		★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	BEFREE	18176893		★☆☆☆☆ Found in Text Mining only
Familial Hemiplegic Migraine	Hemiplegic Migraine	BEFREE	31142262, 8220421, 8786108		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	28965947		★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	BEFREE	27861750		★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	24035425		★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	26634853	Associate	★☆☆☆☆ Found in Text Mining only
Ganglioneuroma	Ganglioneuroma	BEFREE	18201699		★☆☆☆☆ Found in Text Mining only
Giant Cell Glioblastoma	Giant Cell Glioblastoma	CTD_human_DG	21127729		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	CTD_human_DG	21127729		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	Pubtator	26662803	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	BEFREE	27784795		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma Multiforme	Glioblastoma	CTD_human_DG	21127729		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	27784795		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	24143218, 25738469, 27986595, 29659670		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	24143218, 25738469, 29659670	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hajdu-Cheney Syndrome	Hajdu-Cheney Syndrome	BEFREE	25394726		★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	BEFREE	16111703		★☆☆☆☆ Found in Text Mining only
Headache	Headache	Pubtator	39191170	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	27770607, 35611804	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	21518968		★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	BEFREE	29093274		★☆☆☆☆ Found in Text Mining only
Hemangioma capillary infantile	Capillary infantile hemangioma	Pubtator	20069356	Associate	★☆☆☆☆ Found in Text Mining only
Hemiplegia	Hemiplegia	Pubtator	26261665	Associate	★☆☆☆☆ Found in Text Mining only
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemoglobin SC Disease	Hemoglobin sc disease	Pubtator	26634853	Associate	★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	30656190	Associate	★☆☆☆☆ Found in Text Mining only
Hemorrhagic Stroke	Hemorrhagic stroke	Pubtator	25692567, 31443546, 39271666	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis Chronic	Hepatitis	Pubtator	22493555	Stimulate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	22396495	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary Breast And Ovarian Cancer Syndrome	BEFREE	24274803		★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	Pubtator	36254369	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	40018934	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	22006983, 25692567, 25953367, 34706522, 35862191	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	10818518, 10872167, 19855400, 24825564, 29860944, 30430898, 30811836		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	18060036	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	23729168	Stimulate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	19855400, 20204737, 23071643, 30954415		★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	17390743		★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	LHGDN	17390743		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	17272761, 17690848, 19139365, 19372454, 26216120, 28345617, 29449082, 29478611, 30692942, 31484188, 31524338		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	GENOMICS_ENGLAND_DG	19528524		★☆☆☆☆ Found in Text Mining only
Infantile hemangioma	Hemangioma	BEFREE	20069356, 29093274		★☆☆☆☆ Found in Text Mining only
Infantile myofibromatosis	myofibromatosis	BEFREE	23731542		★☆☆☆☆ Found in Text Mining only
Infantile myofibromatosis	myofibromatosis	ORPHANET_DG	23731542		★☆☆☆☆ Found in Text Mining only
Infantile myofibromatosis	myofibromatosis	GENOMICS_ENGLAND_DG	23731542		★☆☆☆☆ Found in Text Mining only
Infantile myofibromatosis	myofibromatosis	Orphanet			★☆☆☆☆ Found in Text Mining only
Infantile myofibromatosis	myofibromatosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Inflammatory Breast Carcinoma	Breast Cancer	BEFREE	23928992, 28634007		★☆☆☆☆ Found in Text Mining only
Intestinal Obstruction	Intestinal Obstruction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	31339861		★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial aneurysm	Pubtator	31339861	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Hemorrhages	Intracranial hemorrhage	Pubtator	22082899, 36604800	Associate	★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	25120811		★☆☆☆☆ Found in Text Mining only
Ischemic Attack Transient	Transient ischemic attack	Pubtator	11757773, 18941948, 32929895	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	15017012, 16807713, 19576955, 21555590, 22133740, 24086431, 25953367, 26563570, 27241575, 27266621, 27770607, 28271496, 29871518, 31376480		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ischemic Stroke	Ischemic stroke	Pubtator	40379656	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ischemic stroke	Ischemic Stroke	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kidney Diseases	Kidney Disease	BEFREE	22806125, 25421557		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	35611804	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	29751972		★☆☆☆☆ Found in Text Mining only
LATERAL MENINGOCELE SYNDROME	Lateral Meningocele Syndrome	BEFREE	25394726, 26754023, 30042232, 31188489		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LATERAL MENINGOCELE SYNDROME	Lateral Meningocele Syndrome	ORPHANET_DG	25394726		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LATERAL MENINGOCELE SYNDROME	Lateral Meningocele Syndrome	CLINVAR_DG	25394726, 26754023		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lateral meningocele syndrome	Lateral Meningocele Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LATERAL MENINGOCELE SYNDROME	Lateral Meningocele Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leiomyosarcoma	Leiomyosarcoma	Pubtator	35682660	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	10079256, 12651099, 29643474		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	19835636	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	11891328, 30038265		★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	LHGDN	11891328		★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	BEFREE	25683759		★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	BEFREE	10637940, 11244211, 11591842, 11901236, 15068168, 19006080, 19187480, 20038773, 25870235, 25959358, 26308724, 28921817, 29700822, 30656190		★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukomalacia Periventricular	Periventricular leukomalacia	Pubtator	39191170	Associate	★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	19832840		★☆☆☆☆ Found in Text Mining only
LIMB-MAMMARY SYNDROME	Limb-Mammary Syndrome	BEFREE	30042232		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	28440410		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	16827154, 17696940, 17920003, 19304334, 22705236, 24113128, 25431954, 25668819, 27840976, 28036048, 28568708, 29259010, 29312803, 30636370, 30765875		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	17920003		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	28284560		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	17696940		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	22493555, 34750395	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	22493555	Stimulate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	29128180		★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	32185220	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	15867348		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	LHGDN	17804716		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	CTD_human_DG	17804716		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung neoplasms	Pubtator	20068176, 25125655, 26472724	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Nephritis	Lupus Nephritis	BEFREE	25421557		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	23836039, 32852523	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	26634853	Associate	★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis Hemophagocytic	Hemophagocytic lymphohistiocytosis	Pubtator	38183241	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	22128846		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	10075489		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	24143218		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	17158237, 18339869, 22396495, 23610446, 23928992, 26694515, 28108512, 29027990, 29109797, 29512753, 30100605, 30119050, 30180881, 30502484, 31770532		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	21036696		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	30521558		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	27840976, 29259010		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	15867348, 17804716, 20068176, 21965228, 21994468, 26838758, 30806291		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	CTD_human_DG	17804716		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	28440410		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	16778208, 18974129, 22396495, 23010708, 24743243, 25356737, 30420565, 30565428, 30723507		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	19816816, 28415631, 29304760		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	23729168, 25864518, 27749937, 31467432, 9973109		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	CTD_human_DG	27923803		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	27861750		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23409141, 23773728, 24984200, 25356737, 27124156, 27157619, 27633819, 27784795, 27861750, 28416766, 28719575, 29259010, 30420565, 30502484, 30591982		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	20359736		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	27460529		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	21036696		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	17158237, 17822320, 18339869		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	18339869, 23649002, 29027990, 30180881		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	21036696		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	21036696		★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan Syndrome	BEFREE	10024441		★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan syndrome	Pubtator	31886938	Associate	★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	25512616, 29128180		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	19424825	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	23610446, 28165469		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	23610446	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	33748290	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Merkel cell carcinoma	Merkel cell carcinoma	BEFREE	30591475		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	10716263, 16426270, 16492242, 18948701, 19455354, 20038773, 20813781, 24579972, 25096610, 25323668, 25819272, 26660850, 28271496, 31142262		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Migraine Disorders	Migraine	GENOMICS_ENGLAND_DG	19528524		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Migraine Disorders	Migraine	Pubtator	24026140, 24579972, 31554780	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Migraine Disorders	Migraine	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Migraine with Aura	Migraine with Aura	BEFREE	10802804, 21038489, 22033996, 29706439, 8220421		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Migraine with Aura	Migraine	Pubtator	28710804, 31324668, 32337960	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	17878719		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	LHGDN	17878719		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	26261665	Associate	★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidoses	Mucopolysaccharidosis	Pubtator	35456399	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	12930383		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	10872167, 11413271, 21217157, 29449082, 30448470, 31598433		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	18941948	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	12861102	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	12861102, 28131704		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial ischemia	Pubtator	12861102, 15605982, 36254369	Associate	★☆☆☆☆ Found in Text Mining only
Myofibromatosis	Myofibromatosis	BEFREE	23731542		★☆☆☆☆ Found in Text Mining only
Myofibromatosis	Myofibromatosis	GENOMICS_ENGLAND_DG	23731542		★☆☆☆☆ Found in Text Mining only
Myofibromatosis	Myofibromatosis	Pubtator	36788105	Associate	★☆☆☆☆ Found in Text Mining only
Myofibromatosis	Myofibromatosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
MYOFIBROMATOSIS, INFANTILE, 2	Myofibromatosis	UNIPROT_DG	23731542		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MYOFIBROMATOSIS, INFANTILE, 2	Myofibromatosis	GENOMICS_ENGLAND_DG	23731542		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MYOFIBROMATOSIS, INFANTILE, 2	Myofibromatosis	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Myopathy	Myopathy	BEFREE	11715067, 17825557		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	27035429, 30341249		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	30341249, 37563118, 37853162	Associate	★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	36970890	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10075489, 11891328, 16084642, 16778208, 17351921, 18757425, 19208840, 20068176, 20337864, 20359736, 20624166, 22074495, 23010708, 23060121, 23610446, 23928992, 24143218, 25171754, 25356737, 25512616, 25668819, 25738469, 26838758, 27124156, 27633819, 27784795, 27791012, 27887917, 28108512, 28165469, 28415631, 28416766, 28476798, 28636652, 28719575, 29027990, 29128180, 29643474, 29765324, 30502484, 30591475, 30723507, 30765875, 31467432, 31770532		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	10075489, 27174004		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	16084642, 23649002		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	31580390, 36362122	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	19832840		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	25512616		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	20614134, 23645556, 24367688, 25080992, 25171754, 25572698, 25996086, 26838758, 27553958, 28061457, 28769027, 28968839, 29765324, 29781034, 30097569		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	CTD_human_DG	21994468		★☆☆☆☆ Found in Text Mining only
Nonarteritic anterior ischemic optic neuropathy (NAION)	Nonarteritic Anterior Ischemic Optic Neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	25120811, 28634007		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	36617688	Associate	★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	30119050		★☆☆☆☆ Found in Text Mining only
Optic Neuropathy, Ischemic	Optic Neuropathy	LHGDN	15096408		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	31188489		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	11836628, 28259906, 30662285		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	28259906, 36946271	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	16778208, 18974129, 22396495, 23010708, 24743243, 25356737, 30420565, 30565428, 30723507		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	18632624, 18974129		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	18632624, 18974129, 20624166, 20671266, 22188785, 22396495, 25010594, 25169943, 25807436, 26662955, 28415574, 30565428, 32169072, 33432021, 36982928, 37342066, 37628927, 37796700	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Serous Adenocarcinoma	Ovarian serous adenocarcinoma	BEFREE	20624166		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	19816816, 28415631, 29304760		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	27633819		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	23226563, 23492684	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	18069660		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	22118425, 31324198		★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	26216120	Associate	★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	26216120, 26850715		★☆☆☆☆ Found in Text Mining only
Paroxysmal Nonkinesigenic Dyskinesia 1	Paroxysmal nonkinesigenic dyskinesia	BEFREE	23492684		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	24035425		★☆☆☆☆ Found in Text Mining only
Platybasia	Platybasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	BEFREE	29463793		★☆☆☆☆ Found in Text Mining only
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	Pubtator	30924900	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	31168348		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	30328613		★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	23637910, 30563887		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	LHGDN	19208840		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	10075489, 11891328, 12524208, 18032925, 21263446, 21940234, 23975424, 24984200, 26876201, 27157619, 29023469, 29643474, 31399482		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	10712431, 10716263, 11718749, 12126955, 12417361, 15350543, 16807713, 16877080, 18483410, 22033996, 23720232, 24378989, 24844136, 26527064, 27174004, 28271496, 28912283, 8878478, 8954801		★☆☆☆☆ Found in Text Mining only
Primary Ciliary Dyskinesia	Ciliary dyskinesia	BEFREE	30883460		★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	BEFREE	11732008		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	23729168, 25864518, 27749937, 31467432, 9973109		★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasia	Prostatic intraepithelial neoplasia	Pubtator	26341090	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	21703393, 23729168, 24505114, 31758038, 36613831	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	25864518	Stimulate	★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	35611804	Associate	★☆☆☆☆ Found in Text Mining only
Proteus Syndrome	Proteus Syndrome	BEFREE	16379592		★☆☆☆☆ Found in Text Mining only
Pseudobulbar Palsy	Pseudobulbar Palsy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	19855400, 20204737		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	29874112, 33444514	Associate	★☆☆☆☆ Found in Text Mining only
Recurrent subcortical infarcts	Subcortical Infarcts	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Recurrent subcortical infarcts	Subcortical Infarcts	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	11072240		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	20689064, 9371916		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	27661116	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	22117196, 24797362		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	24797362	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	11678296, 26838552		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	11827605		★☆☆☆☆ Found in Text Mining only
Scleroderma Diffuse	Scleroderma	Pubtator	32185220	Associate	★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	32185220	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	26261665, 29363903	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensory neuropathy	Sensory neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	CTD_human_DG	27923803		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skin Neoplasms	Skin Neoplasms	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Small cell carcinoma of lung	Lung carcinoma	BEFREE	26838758		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	31199602, 35596192	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	20359736, 23645556, 26838758, 27124156, 28061457, 29170450		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	CTD_human_DG	27923803		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	CTD_human_DG	25151357		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	31308693		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	24351288, 27124156, 29146722, 31093971	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	27363496, 30873760, 34925644, 35421138	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	32028262, 33452458	Stimulate	★☆☆☆☆ Found in Text Mining only
Strawberry nevus of skin	Strawberry Nevus Of Skin	BEFREE	20069356, 29093274		★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	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	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Subcortical dementia	Subcortical dementia	BEFREE	25096610		★☆☆☆☆ Found in Text Mining only
Subcortical dementia	Subcortical dementia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Subcortical Infarction	Brain Infarction	BEFREE	19242647, 25959358		★☆☆☆☆ Found in Text Mining only
Subcortical Vascular Dementia	Subcortical Vascular Dementia	BEFREE	15017012, 25819272		★☆☆☆☆ Found in Text Mining only
Subcutaneous hemorrhage	Subcutaneous hemorrhage	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syringomyelia	Syringomyelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	31324198	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	27861750		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	27861750		★☆☆☆☆ Found in Text Mining only
Transient Cerebral Ischemia	Cerebral Ischemia	BEFREE	11718749, 29478611		★☆☆☆☆ Found in Text Mining only
Transient Cerebral Ischemia	Cerebral Ischemia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack	Transient Ischemic Attack	BEFREE	11718749, 29478611		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	14667809		★☆☆☆☆ Found in Text Mining only
Trigeminal Neuralgia	Trigeminal neuralgia	Pubtator	38436192	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	28476798, 29795369, 30180881, 31770532		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	31770532	Inhibit	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	35073251	Associate	★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	28416766		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	24905589, 29532409	Associate	★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vascular Calcification	Vascular calcification	Pubtator	21920521	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	10637940, 11706120, 11901241, 12480754, 15068168, 15221337, 15350543, 16256149, 18467649, 20876488, 22306179, 23720232, 23965337, 24840674, 27770607, 28281108, 30651639		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	34199176	Associate	★☆☆☆☆ Found in Text Mining only
Vasculopathy Retinal With Cerebral Leukodystrophy	Retinal vasculopathy with cerebral leukodystrophy	Pubtator	23602593	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	40319408	Associate	★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	30530967	Associate	★☆☆☆☆ Found in Text Mining only