Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2697
Gene name	Gap junction protein alpha 1
Gene symbol	GJA1
Synonyms (NCBI Gene)	AVSD3CMDRCX43EKVPEKVP3GJALHLHS1HSSODDDPPKCA
Chromosome	6
Chromosome location	6q22.31
Summary	This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. The

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SNP ID	Visualize variation	Clinical significance	Consequence
rs2227885	G>A	Pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs28931600	G>A	Pathogenic	Missense variant, coding sequence variant
rs28931601	G>A	Pathogenic	Missense variant, coding sequence variant
rs104893961	A>C	Pathogenic	Coding sequence variant, missense variant
rs104893962	T>C	Pathogenic	Coding sequence variant, missense variant
rs104893963	G>A	Pathogenic	Coding sequence variant, missense variant
rs104893964	G>A	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs104893965	G>A	Likely-benign, pathogenic	Coding sequence variant, missense variant
rs104893966	A>C	Pathogenic	Coding sequence variant, missense variant
rs121912969	T>C	Pathogenic	Missense variant, coding sequence variant
rs121912970	C>T	Pathogenic	Stop gained, coding sequence variant
rs267606844	G>A	Pathogenic	Coding sequence variant, missense variant
rs267606845	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs387906616	C>T	Pathogenic	Missense variant, coding sequence variant
rs397518464	A>G	Pathogenic	Missense variant, coding sequence variant
rs750294638	G>A	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs764670582	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs794729675	C>T	Pathogenic	Missense variant, coding sequence variant
rs864309644	G>T	Pathogenic	Coding sequence variant, missense variant
rs875989815	A>T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs962041031	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1057518872	T>C	Pathogenic	Coding sequence variant, missense variant
rs1057518960	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1554200990	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1554200992	C>T	Pathogenic	Missense variant, coding sequence variant
rs1554200995	A>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs1554201017	T>C	Pathogenic	Missense variant, coding sequence variant
rs1554201018	G>A	Pathogenic	Missense variant, coding sequence variant
rs1554201019	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1554201043	G>T	Pathogenic	Missense variant, coding sequence variant
rs1554201088	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1582558097	->TTT	Pathogenic	Inframe insertion, coding sequence variant
rs1582558514	AT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1582558666	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1582558792	G>A	Pathogenic	Missense variant, coding sequence variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT001984	hsa-miR-1-3p	Luciferase reporter assay	17401374
MIRT001984	hsa-miR-1-3p	Luciferase reporter assay	17401374
MIRT001984	hsa-miR-1-3p	Luciferase reporter assay	17401374
MIRT001984	hsa-miR-1-3p	Luciferase reporter assay	17401374
MIRT001984	hsa-miR-1-3p	Luciferase reporter assay	17401374
MIRT006047	hsa-miR-218-5p	ImmunoblotLuciferase reporter assayMicroarrayqRT-PCR	21385904
MIRT006047	hsa-miR-218-5p	ImmunoblotLuciferase reporter assayMicroarrayqRT-PCR	21385904
MIRT006047	hsa-miR-218-5p	ImmunoblotLuciferase reporter assayMicroarrayqRT-PCR	21385904
MIRT001984	hsa-miR-1-3p	Luciferase reporter assay	23352489
MIRT021080	hsa-miR-206	Western blot	17062625
MIRT001984	hsa-miR-1-3p	Reporter assay;Other	17401374
MIRT001984	hsa-miR-1-3p	Reporter assay	17062625
MIRT046296	hsa-miR-23b-3p	CLASH	23622248
MIRT046296	hsa-miR-23b-3p	CLASH	23622248
MIRT043680	hsa-miR-342-3p	CLASH	23622248
MIRT052943	hsa-miR-221-3p	Luciferase reporter assayWestern blot	22294051
MIRT052944	hsa-miR-222-3p	Luciferase reporter assayWestern blot	22294051
MIRT052944	hsa-miR-222-3p	ImmunofluorescenceLuciferase reporter assayWestern blot	22294051
MIRT052943	hsa-miR-221-3p	ImmunofluorescenceLuciferase reporter assayWestern blot	22294051
MIRT053007	hsa-miR-20a-5p	Luciferase reporter assayqRT-PCRWestern blot	22785209
MIRT053007	hsa-miR-20a-5p	Luciferase reporter assayqRT-PCRWestern blot	22785209
MIRT053132	hsa-miR-130a-3p	ImmunofluorescenceIn situ hybridizationLuciferase reporter assayWestern blot	24819345
MIRT001984	hsa-miR-1-3p	qRT-PCRWestern blot	23922949
MIRT001984	hsa-miR-1-3p	qRT-PCRWestern blot	23922949
MIRT006047	hsa-miR-218-5p	PAR-CLIP	22012620
MIRT537152	hsa-miR-595	PAR-CLIP	22012620
MIRT537151	hsa-miR-6888-5p	PAR-CLIP	22012620
MIRT537150	hsa-miR-648	PAR-CLIP	22012620
MIRT537149	hsa-miR-636	PAR-CLIP	22012620
MIRT537148	hsa-miR-4266	PAR-CLIP	22012620
MIRT537147	hsa-miR-651-5p	PAR-CLIP	22012620
MIRT021080	hsa-miR-206	Luciferase reporter assay	28342807
MIRT021080	hsa-miR-206	Luciferase reporter assay	28342807
MIRT001984	hsa-miR-1-3p	Western blot	28112313
MIRT046296	hsa-miR-23b-3p	Luciferase reporter assayqRT-PCRWestern blot	26283635
MIRT021080	hsa-miR-206	Luciferase reporter assay	28342807
MIRT021080	hsa-miR-206	Luciferase reporter assay	28342807
MIRT734135	hsa-miR-613	Western blottingImmunofluorescenceqRT-PCR	32943930
MIRT006047	hsa-miR-218-5p	PAR-CLIP	22012620
MIRT537152	hsa-miR-595	PAR-CLIP	22012620
MIRT537151	hsa-miR-6888-5p	PAR-CLIP	22012620
MIRT537150	hsa-miR-648	PAR-CLIP	22012620
MIRT537149	hsa-miR-636	PAR-CLIP	22012620
MIRT537148	hsa-miR-4266	PAR-CLIP	22012620
MIRT537147	hsa-miR-651-5p	PAR-CLIP	22012620
MIRT021080	hsa-miR-206	Luciferase reporter assayWestern blottingqRT-PCR	35279164
MIRT756322	hsa-miR-29b-1-5p	Western blottingImmunofluorescence	38934067
MIRT1019578	hsa-miR-1183	CLIP-seq
MIRT1019579	hsa-miR-1231	CLIP-seq
MIRT1019580	hsa-miR-1264	CLIP-seq
MIRT1019581	hsa-miR-1270	CLIP-seq
MIRT1019582	hsa-miR-1272	CLIP-seq
MIRT1019583	hsa-miR-130a	CLIP-seq
MIRT1019584	hsa-miR-130b	CLIP-seq
MIRT1019585	hsa-miR-186	CLIP-seq
MIRT1019586	hsa-miR-19a	CLIP-seq
MIRT1019587	hsa-miR-19b	CLIP-seq
MIRT1019588	hsa-miR-23a	CLIP-seq
MIRT1019589	hsa-miR-23b	CLIP-seq
MIRT1019590	hsa-miR-23c	CLIP-seq
MIRT1019591	hsa-miR-301a	CLIP-seq
MIRT1019592	hsa-miR-301b	CLIP-seq
MIRT1019593	hsa-miR-3133	CLIP-seq
MIRT1019594	hsa-miR-3163	CLIP-seq
MIRT1019595	hsa-miR-3609	CLIP-seq
MIRT1019596	hsa-miR-3666	CLIP-seq
MIRT1019597	hsa-miR-3910	CLIP-seq
MIRT1019598	hsa-miR-3925-3p	CLIP-seq
MIRT1019599	hsa-miR-4263	CLIP-seq
MIRT1019600	hsa-miR-4288	CLIP-seq
MIRT1019601	hsa-miR-4295	CLIP-seq
MIRT1019602	hsa-miR-4427	CLIP-seq
MIRT1019603	hsa-miR-4434	CLIP-seq
MIRT1019604	hsa-miR-4473	CLIP-seq
MIRT1019605	hsa-miR-4516	CLIP-seq
MIRT1019606	hsa-miR-4531	CLIP-seq
MIRT1019607	hsa-miR-454	CLIP-seq
MIRT1019608	hsa-miR-4639-3p	CLIP-seq
MIRT1019609	hsa-miR-4643	CLIP-seq
MIRT1019610	hsa-miR-4668-3p	CLIP-seq
MIRT1019611	hsa-miR-4671-3p	CLIP-seq
MIRT1019612	hsa-miR-4680-3p	CLIP-seq
MIRT1019613	hsa-miR-4686	CLIP-seq
MIRT1019614	hsa-miR-4738-3p	CLIP-seq
MIRT1019615	hsa-miR-511	CLIP-seq
MIRT1019616	hsa-miR-548ah	CLIP-seq
MIRT1019617	hsa-miR-548an	CLIP-seq
MIRT1019618	hsa-miR-548g	CLIP-seq
MIRT1019619	hsa-miR-548t	CLIP-seq
MIRT1019620	hsa-miR-576-5p	CLIP-seq
MIRT1019621	hsa-miR-582-3p	CLIP-seq
MIRT1019622	hsa-miR-590-3p	CLIP-seq
MIRT1019623	hsa-miR-599	CLIP-seq
MIRT1019624	hsa-miR-620	CLIP-seq
MIRT1019625	hsa-miR-632	CLIP-seq
MIRT1019626	hsa-miR-766	CLIP-seq
MIRT1019580	hsa-miR-1264	CLIP-seq
MIRT1019588	hsa-miR-23a	CLIP-seq
MIRT1019589	hsa-miR-23b	CLIP-seq
MIRT1019590	hsa-miR-23c	CLIP-seq
MIRT1549213	hsa-miR-4282	CLIP-seq
MIRT1549214	hsa-miR-498	CLIP-seq
MIRT2234987	hsa-miR-106a	CLIP-seq
MIRT2234988	hsa-miR-106b	CLIP-seq
MIRT1019583	hsa-miR-130a	CLIP-seq
MIRT1019584	hsa-miR-130b	CLIP-seq
MIRT2234989	hsa-miR-17	CLIP-seq
MIRT1019586	hsa-miR-19a	CLIP-seq
MIRT1019587	hsa-miR-19b	CLIP-seq
MIRT2234990	hsa-miR-20a	CLIP-seq
MIRT2234991	hsa-miR-20b	CLIP-seq
MIRT1019591	hsa-miR-301a	CLIP-seq
MIRT1019592	hsa-miR-301b	CLIP-seq
MIRT1019594	hsa-miR-3163	CLIP-seq
MIRT1019596	hsa-miR-3666	CLIP-seq
MIRT2234992	hsa-miR-3973	CLIP-seq
MIRT1019601	hsa-miR-4295	CLIP-seq
MIRT1019607	hsa-miR-454	CLIP-seq
MIRT1019610	hsa-miR-4668-3p	CLIP-seq
MIRT2234993	hsa-miR-4724-3p	CLIP-seq
MIRT2234994	hsa-miR-519a	CLIP-seq
MIRT2234995	hsa-miR-519b-3p	CLIP-seq
MIRT2234996	hsa-miR-519c-3p	CLIP-seq
MIRT2234997	hsa-miR-519d	CLIP-seq
MIRT2234998	hsa-miR-520g	CLIP-seq
MIRT2234999	hsa-miR-520h	CLIP-seq
MIRT1019622	hsa-miR-590-3p	CLIP-seq
MIRT2235000	hsa-miR-93	CLIP-seq
MIRT2429302	hsa-miR-101	CLIP-seq
MIRT1019580	hsa-miR-1264	CLIP-seq
MIRT2429303	hsa-miR-1305	CLIP-seq
MIRT2429304	hsa-miR-144	CLIP-seq
MIRT2429305	hsa-miR-1972	CLIP-seq
MIRT2429306	hsa-miR-2053	CLIP-seq
MIRT2429307	hsa-miR-217	CLIP-seq
MIRT2429308	hsa-miR-219-5p	CLIP-seq
MIRT1019588	hsa-miR-23a	CLIP-seq
MIRT1019589	hsa-miR-23b	CLIP-seq
MIRT1019590	hsa-miR-23c	CLIP-seq
MIRT2429309	hsa-miR-3134	CLIP-seq
MIRT2429310	hsa-miR-3136-3p	CLIP-seq
MIRT1019594	hsa-miR-3163	CLIP-seq
MIRT2429311	hsa-miR-3183	CLIP-seq
MIRT2429312	hsa-miR-323b-3p	CLIP-seq
MIRT2429313	hsa-miR-328	CLIP-seq
MIRT2429314	hsa-miR-331-5p	CLIP-seq
MIRT2429315	hsa-miR-33a	CLIP-seq
MIRT2429316	hsa-miR-33b	CLIP-seq
MIRT2429317	hsa-miR-3529	CLIP-seq
MIRT2429318	hsa-miR-3622a-5p	CLIP-seq
MIRT2429319	hsa-miR-3646	CLIP-seq
MIRT2429320	hsa-miR-3671	CLIP-seq
MIRT2429321	hsa-miR-379	CLIP-seq
MIRT2429322	hsa-miR-3915	CLIP-seq
MIRT1019598	hsa-miR-3925-3p	CLIP-seq
MIRT2429323	hsa-miR-3928	CLIP-seq
MIRT2429324	hsa-miR-3942-3p	CLIP-seq
MIRT2429325	hsa-miR-421	CLIP-seq
MIRT2429326	hsa-miR-4254	CLIP-seq
MIRT1019599	hsa-miR-4263	CLIP-seq
MIRT2429327	hsa-miR-4275	CLIP-seq
MIRT2429328	hsa-miR-4278	CLIP-seq
MIRT1549213	hsa-miR-4282	CLIP-seq
MIRT2429329	hsa-miR-4418	CLIP-seq
MIRT2429330	hsa-miR-4423-3p	CLIP-seq
MIRT2429331	hsa-miR-4445	CLIP-seq
MIRT2429332	hsa-miR-4451	CLIP-seq
MIRT2429333	hsa-miR-4502	CLIP-seq
MIRT2429334	hsa-miR-4534	CLIP-seq
MIRT1019608	hsa-miR-4639-3p	CLIP-seq
MIRT1019609	hsa-miR-4643	CLIP-seq
MIRT2429335	hsa-miR-4650-3p	CLIP-seq
MIRT2429336	hsa-miR-4650-5p	CLIP-seq
MIRT2429337	hsa-miR-4662a-5p	CLIP-seq
MIRT1019610	hsa-miR-4668-3p	CLIP-seq
MIRT2429338	hsa-miR-4672	CLIP-seq
MIRT2429339	hsa-miR-4678	CLIP-seq
MIRT1019613	hsa-miR-4686	CLIP-seq
MIRT2429340	hsa-miR-4706	CLIP-seq
MIRT2429341	hsa-miR-4714-3p	CLIP-seq
MIRT2429342	hsa-miR-4723-3p	CLIP-seq
MIRT2429343	hsa-miR-4729	CLIP-seq
MIRT2429344	hsa-miR-4749-5p	CLIP-seq
MIRT2429345	hsa-miR-4760-3p	CLIP-seq
MIRT2429346	hsa-miR-4782-3p	CLIP-seq
MIRT2429347	hsa-miR-4789-3p	CLIP-seq
MIRT2429348	hsa-miR-495	CLIP-seq
MIRT1549214	hsa-miR-498	CLIP-seq
MIRT2429349	hsa-miR-508-3p	CLIP-seq
MIRT2429350	hsa-miR-509-3-5p	CLIP-seq
MIRT2429351	hsa-miR-509-5p	CLIP-seq
MIRT1019615	hsa-miR-511	CLIP-seq
MIRT2429352	hsa-miR-539	CLIP-seq
MIRT2429353	hsa-miR-548c-3p	CLIP-seq
MIRT2429354	hsa-miR-576-3p	CLIP-seq
MIRT1019620	hsa-miR-576-5p	CLIP-seq
MIRT2429355	hsa-miR-579	CLIP-seq
MIRT1019621	hsa-miR-582-3p	CLIP-seq
MIRT2429356	hsa-miR-582-5p	CLIP-seq
MIRT1019623	hsa-miR-599	CLIP-seq
MIRT2429357	hsa-miR-607	CLIP-seq
MIRT2429358	hsa-miR-609	CLIP-seq
MIRT2429359	hsa-miR-619	CLIP-seq
MIRT2429360	hsa-miR-630	CLIP-seq
MIRT2429361	hsa-miR-633	CLIP-seq
MIRT2429362	hsa-miR-664	CLIP-seq
MIRT2429363	hsa-miR-744	CLIP-seq
MIRT1019626	hsa-miR-766	CLIP-seq
MIRT2429364	hsa-miR-935	CLIP-seq
MIRT2429305	hsa-miR-1972	CLIP-seq
MIRT2437413	hsa-miR-374a	CLIP-seq
MIRT2437414	hsa-miR-374b	CLIP-seq
MIRT2429326	hsa-miR-4254	CLIP-seq
MIRT2429336	hsa-miR-4650-5p	CLIP-seq
MIRT2429359	hsa-miR-619	CLIP-seq
MIRT2538820	hsa-miR-1	CLIP-seq
MIRT2234987	hsa-miR-106a	CLIP-seq
MIRT2234988	hsa-miR-106b	CLIP-seq
MIRT2538821	hsa-miR-1193	CLIP-seq
MIRT1019582	hsa-miR-1272	CLIP-seq
MIRT2429303	hsa-miR-1305	CLIP-seq
MIRT1019583	hsa-miR-130a	CLIP-seq
MIRT1019584	hsa-miR-130b	CLIP-seq
MIRT2538822	hsa-miR-1343	CLIP-seq
MIRT2538823	hsa-miR-138	CLIP-seq
MIRT2234989	hsa-miR-17	CLIP-seq
MIRT2429305	hsa-miR-1972	CLIP-seq
MIRT1019586	hsa-miR-19a	CLIP-seq
MIRT1019587	hsa-miR-19b	CLIP-seq
MIRT2234990	hsa-miR-20a	CLIP-seq
MIRT2234991	hsa-miR-20b	CLIP-seq
MIRT2538824	hsa-miR-300	CLIP-seq
MIRT1019591	hsa-miR-301a	CLIP-seq
MIRT1019592	hsa-miR-301b	CLIP-seq
MIRT2538825	hsa-miR-3120-5p	CLIP-seq
MIRT2538826	hsa-miR-3145-3p	CLIP-seq
MIRT2538827	hsa-miR-3145-5p	CLIP-seq
MIRT1019594	hsa-miR-3163	CLIP-seq
MIRT2429311	hsa-miR-3183	CLIP-seq
MIRT2429315	hsa-miR-33a	CLIP-seq
MIRT2429316	hsa-miR-33b	CLIP-seq
MIRT1019595	hsa-miR-3609	CLIP-seq
MIRT2429319	hsa-miR-3646	CLIP-seq
MIRT1019596	hsa-miR-3666	CLIP-seq
MIRT2538828	hsa-miR-3673	CLIP-seq
MIRT2538829	hsa-miR-3681	CLIP-seq
MIRT2538830	hsa-miR-3691-5p	CLIP-seq
MIRT2437413	hsa-miR-374a	CLIP-seq
MIRT2437414	hsa-miR-374b	CLIP-seq
MIRT2538831	hsa-miR-381	CLIP-seq
MIRT2429322	hsa-miR-3915	CLIP-seq
MIRT2429323	hsa-miR-3928	CLIP-seq
MIRT2234992	hsa-miR-3973	CLIP-seq
MIRT2429326	hsa-miR-4254	CLIP-seq
MIRT1019601	hsa-miR-4295	CLIP-seq
MIRT2538832	hsa-miR-4307	CLIP-seq
MIRT2538833	hsa-miR-4318	CLIP-seq
MIRT2538834	hsa-miR-4426	CLIP-seq
MIRT1019602	hsa-miR-4427	CLIP-seq
MIRT1019604	hsa-miR-4473	CLIP-seq
MIRT2538835	hsa-miR-4477a	CLIP-seq
MIRT2538836	hsa-miR-4477b	CLIP-seq
MIRT2538837	hsa-miR-4496	CLIP-seq
MIRT2538838	hsa-miR-4524	CLIP-seq
MIRT1019607	hsa-miR-454	CLIP-seq
MIRT2538839	hsa-miR-4647	CLIP-seq
MIRT2429336	hsa-miR-4650-5p	CLIP-seq
MIRT2538840	hsa-miR-4662b	CLIP-seq
MIRT1019610	hsa-miR-4668-3p	CLIP-seq
MIRT1019611	hsa-miR-4671-3p	CLIP-seq
MIRT1019612	hsa-miR-4680-3p	CLIP-seq
MIRT2538841	hsa-miR-4690-5p	CLIP-seq
MIRT2538842	hsa-miR-4693-5p	CLIP-seq
MIRT2538843	hsa-miR-4696	CLIP-seq
MIRT2429341	hsa-miR-4714-3p	CLIP-seq
MIRT2429342	hsa-miR-4723-3p	CLIP-seq
MIRT2234993	hsa-miR-4724-3p	CLIP-seq
MIRT2538844	hsa-miR-483-3p	CLIP-seq
MIRT1019615	hsa-miR-511	CLIP-seq
MIRT2234994	hsa-miR-519a	CLIP-seq
MIRT2234995	hsa-miR-519b-3p	CLIP-seq
MIRT2234996	hsa-miR-519c-3p	CLIP-seq
MIRT2234997	hsa-miR-519d	CLIP-seq
MIRT2234998	hsa-miR-520g	CLIP-seq
MIRT2234999	hsa-miR-520h	CLIP-seq
MIRT1019616	hsa-miR-548ah	CLIP-seq
MIRT1019619	hsa-miR-548t	CLIP-seq
MIRT2538845	hsa-miR-548u	CLIP-seq
MIRT2538846	hsa-miR-562	CLIP-seq
MIRT2538847	hsa-miR-578	CLIP-seq
MIRT1019622	hsa-miR-590-3p	CLIP-seq
MIRT2429359	hsa-miR-619	CLIP-seq
MIRT2538848	hsa-miR-653	CLIP-seq
MIRT2538849	hsa-miR-668	CLIP-seq
MIRT2538850	hsa-miR-873	CLIP-seq
MIRT2538851	hsa-miR-892a	CLIP-seq
MIRT2235000	hsa-miR-93	CLIP-seq
MIRT2538820	hsa-miR-1	CLIP-seq
MIRT2234987	hsa-miR-106a	CLIP-seq
MIRT2234988	hsa-miR-106b	CLIP-seq
MIRT2538821	hsa-miR-1193	CLIP-seq
MIRT1019582	hsa-miR-1272	CLIP-seq
MIRT2429303	hsa-miR-1305	CLIP-seq
MIRT1019583	hsa-miR-130a	CLIP-seq
MIRT1019584	hsa-miR-130b	CLIP-seq
MIRT2538822	hsa-miR-1343	CLIP-seq
MIRT2538823	hsa-miR-138	CLIP-seq
MIRT2234989	hsa-miR-17	CLIP-seq
MIRT2429305	hsa-miR-1972	CLIP-seq
MIRT1019586	hsa-miR-19a	CLIP-seq
MIRT1019587	hsa-miR-19b	CLIP-seq
MIRT2234990	hsa-miR-20a	CLIP-seq
MIRT2234991	hsa-miR-20b	CLIP-seq
MIRT2538824	hsa-miR-300	CLIP-seq
MIRT1019591	hsa-miR-301a	CLIP-seq
MIRT1019592	hsa-miR-301b	CLIP-seq
MIRT2538825	hsa-miR-3120-5p	CLIP-seq
MIRT2538826	hsa-miR-3145-3p	CLIP-seq
MIRT2538827	hsa-miR-3145-5p	CLIP-seq
MIRT1019594	hsa-miR-3163	CLIP-seq
MIRT2429311	hsa-miR-3183	CLIP-seq
MIRT2429315	hsa-miR-33a	CLIP-seq
MIRT2429316	hsa-miR-33b	CLIP-seq
MIRT1019595	hsa-miR-3609	CLIP-seq
MIRT2429319	hsa-miR-3646	CLIP-seq
MIRT1019596	hsa-miR-3666	CLIP-seq
MIRT2538828	hsa-miR-3673	CLIP-seq
MIRT2538829	hsa-miR-3681	CLIP-seq
MIRT2538830	hsa-miR-3691-5p	CLIP-seq
MIRT2437413	hsa-miR-374a	CLIP-seq
MIRT2437414	hsa-miR-374b	CLIP-seq
MIRT2538831	hsa-miR-381	CLIP-seq
MIRT2429322	hsa-miR-3915	CLIP-seq
MIRT2429323	hsa-miR-3928	CLIP-seq
MIRT2234992	hsa-miR-3973	CLIP-seq
MIRT2429326	hsa-miR-4254	CLIP-seq
MIRT1019601	hsa-miR-4295	CLIP-seq
MIRT2538832	hsa-miR-4307	CLIP-seq
MIRT2681570	hsa-miR-4310	CLIP-seq
MIRT2538833	hsa-miR-4318	CLIP-seq
MIRT2538834	hsa-miR-4426	CLIP-seq
MIRT1019602	hsa-miR-4427	CLIP-seq
MIRT2681571	hsa-miR-4435	CLIP-seq
MIRT1019604	hsa-miR-4473	CLIP-seq
MIRT2538835	hsa-miR-4477a	CLIP-seq
MIRT2538836	hsa-miR-4477b	CLIP-seq
MIRT2538837	hsa-miR-4496	CLIP-seq
MIRT2538838	hsa-miR-4524	CLIP-seq
MIRT1019607	hsa-miR-454	CLIP-seq
MIRT2538839	hsa-miR-4647	CLIP-seq
MIRT2429336	hsa-miR-4650-5p	CLIP-seq
MIRT2538840	hsa-miR-4662b	CLIP-seq
MIRT1019610	hsa-miR-4668-3p	CLIP-seq
MIRT1019611	hsa-miR-4671-3p	CLIP-seq
MIRT1019612	hsa-miR-4680-3p	CLIP-seq
MIRT2538841	hsa-miR-4690-5p	CLIP-seq
MIRT2538842	hsa-miR-4693-5p	CLIP-seq
MIRT2538843	hsa-miR-4696	CLIP-seq
MIRT2429341	hsa-miR-4714-3p	CLIP-seq
MIRT2429342	hsa-miR-4723-3p	CLIP-seq
MIRT2234993	hsa-miR-4724-3p	CLIP-seq
MIRT2538844	hsa-miR-483-3p	CLIP-seq
MIRT2681572	hsa-miR-510	CLIP-seq
MIRT1019615	hsa-miR-511	CLIP-seq
MIRT2681573	hsa-miR-512-5p	CLIP-seq
MIRT2681574	hsa-miR-514	CLIP-seq
MIRT2681575	hsa-miR-514b-3p	CLIP-seq
MIRT2234994	hsa-miR-519a	CLIP-seq
MIRT2234995	hsa-miR-519b-3p	CLIP-seq
MIRT2234996	hsa-miR-519c-3p	CLIP-seq
MIRT2234997	hsa-miR-519d	CLIP-seq
MIRT2234998	hsa-miR-520g	CLIP-seq
MIRT2234999	hsa-miR-520h	CLIP-seq
MIRT1019616	hsa-miR-548ah	CLIP-seq
MIRT1019619	hsa-miR-548t	CLIP-seq
MIRT2538845	hsa-miR-548u	CLIP-seq
MIRT2538846	hsa-miR-562	CLIP-seq
MIRT2538847	hsa-miR-578	CLIP-seq
MIRT1019622	hsa-miR-590-3p	CLIP-seq
MIRT2429359	hsa-miR-619	CLIP-seq
MIRT2538848	hsa-miR-653	CLIP-seq
MIRT2538849	hsa-miR-668	CLIP-seq
MIRT2538850	hsa-miR-873	CLIP-seq
MIRT2538851	hsa-miR-892a	CLIP-seq
MIRT2235000	hsa-miR-93	CLIP-seq

Show/Hide all (2)

Transcription factor	Regulation	Reference
JUN	Activation	10421804
SP1	Activation	10421804;19679555

Show/Hide all (84)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000132	Process	Establishment of mitotic spindle orientation	IMP	30992345
GO:0000139	Component	Golgi membrane	TAS
GO:0003161	Process	Cardiac conduction system development	NAS	26786210
GO:0005243	Function	Gap junction channel activity	IBA
GO:0005243	Function	Gap junction channel activity	IDA	1696265, 16790700, 23348765, 29366904
GO:0005243	Function	Gap junction channel activity	IEA
GO:0005515	Function	Protein binding	IPI	9707407, 15709751, 16944923, 17761141, 21220045, 25910212, 29366904, 30242148, 30992345, 31515488, 32296183, 32814053
GO:0005634	Component	Nucleus	IDA	30242148
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	24210816, 30599359
GO:0005739	Component	Mitochondrion	IDA	15919068, 29163229
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005794	Component	Golgi apparatus	ISS
GO:0005886	Component	Plasma membrane	IDA	11090614, 30599359
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS	15709751
GO:0005921	Component	Gap junction	IDA	1696265, 23348765, 30599359
GO:0005921	Component	Gap junction	IEA
GO:0005921	Component	Gap junction	ISS
GO:0005922	Component	Connexin complex	IBA
GO:0005922	Component	Connexin complex	IEA
GO:0005922	Component	Connexin complex	ISS	15044680
GO:0005922	Component	Connexin complex	TAS	1850831
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0007154	Process	Cell communication	IEA
GO:0007165	Process	Signal transduction	IDA	1696265
GO:0007267	Process	Cell-cell signaling	IBA
GO:0007267	Process	Cell-cell signaling	IDA	1696265
GO:0007267	Process	Cell-cell signaling	IEA
GO:0007283	Process	Spermatogenesis	ISS
GO:0007507	Process	Heart development	IBA
GO:0007507	Process	Heart development	IEA
GO:0008013	Function	Beta-catenin binding	IPI	30992345
GO:0008104	Process	Intracellular protein localization	IMP	30992345
GO:0010628	Process	Positive regulation of gene expression	IMP	28342807
GO:0010644	Process	Cell communication by electrical coupling	IBA
GO:0010644	Process	Cell communication by electrical coupling	IDA	1696265, 16790700, 23348765
GO:0014047	Process	Glutamate secretion	ISS	26200696
GO:0014704	Component	Intercalated disc	IDA	22889254, 23381804
GO:0014704	Component	Intercalated disc	IEA
GO:0014704	Component	Intercalated disc	ISS
GO:0015075	Function	Monoatomic ion transmembrane transporter activity	IDA	1696265
GO:0015562	Function	Efflux transmembrane transporter activity	ISS	26200696
GO:0015631	Function	Tubulin binding	IDA	22558917
GO:0016020	Component	Membrane	IEA
GO:0016264	Process	Gap junction assembly	TAS	15709751
GO:0016324	Component	Apical plasma membrane	ISS
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0030054	Component	Cell junction	IDA	29366904
GO:0030308	Process	Negative regulation of cell growth	ISS
GO:0030660	Component	Golgi-associated vesicle membrane	TAS
GO:0032277	Process	Negative regulation of gonadotropin secretion	IMP	30599359
GO:0034220	Process	Monoatomic ion transmembrane transport	IDA	1696265
GO:0034634	Function	Glutathione transmembrane transporter activity	ISS	26200696
GO:0034775	Process	Glutathione transmembrane transport	IEA
GO:0035633	Process	Maintenance of blood-brain barrier	NAS	30280653
GO:0042908	Process	Xenobiotic transport	ISS
GO:0043014	Function	Alpha-tubulin binding	IDA	29163229
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	HMP	12761501
GO:0044291	Component	Cell-cell contact zone	IDA	11090614
GO:0045121	Component	Membrane raft	ISS
GO:0045216	Process	Cell-cell junction organization	IEA
GO:0046849	Process	Bone remodeling	ISS
GO:0055077	Function	Gap junction hemi-channel activity	IMP	29366904
GO:0055085	Process	Transmembrane transport	IEA
GO:0060348	Process	Bone development	ISS
GO:0070160	Component	Tight junction	IDA	30992345
GO:0070161	Component	Anchoring junction	IEA
GO:0086014	Process	Atrial cardiac muscle cell action potential	TAS	23348765
GO:0086064	Process	Cell communication by electrical coupling involved in cardiac conduction	NAS	1696265
GO:0086075	Function	Gap junction channel activity involved in cardiac conduction electrical coupling	NAS	1696265
GO:0099111	Process	Microtubule-based transport	IMP	29163229
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	ISS	27626200
GO:0140115	Process	Export across plasma membrane	ISS	26200696
GO:1901164	Process	Negative regulation of trophoblast cell migration	IMP	30599359
GO:1903522	Process	Regulation of blood circulation	IEA
GO:1903763	Function	Gap junction channel activity involved in cell communication by electrical coupling	IDA	1696265
GO:1904646	Process	Cellular response to amyloid-beta	ISS	26200696
GO:1904707	Process	Positive regulation of vascular associated smooth muscle cell proliferation	IMP	28342807
GO:1905332	Process	Positive regulation of morphogenesis of an epithelium	IMP	30992345
GO:1905772	Process	Positive regulation of mesodermal cell differentiation	IMP	30599359
GO:2000648	Process	Positive regulation of stem cell proliferation	IMP	30599359

MIM	HGNC	e!Ensembl
121014	4274	ENSG00000152661

P17302

Protein name

Gap junction alpha-1 protein (Connexin-43) (Cx43) (Gap junction 43 kDa heart protein)

Protein function

Gap junction protein that acts as a regulator of bladder capacity. A gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring ce

PDB

2LL2 , 7F92 , 7F93 , 7F94 , 7XQ9 , 7XQB , 7XQD , 7XQF , 7XQG , 7XQH , 7XQI , 7XQJ , 7Z1T , 7Z22 , 7Z23 , 8QKO

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00029	Connexin	3 → 233	Connexin	Family
PF03508	Connexin43	293 → 312	Gap junction alpha-1 protein (Cx43)	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed at intercalated disks in the heart (at protein level) (PubMed:11741837, PubMed:18662195). Expressed in the fetal cochlea (PubMed:11741837). {ECO:0000269|PubMed:11741837, ECO:0000269|PubMed:18662195}.

Sequence

MGDWSALGKLLDKVQAYSTAGGKVWLSVLFIFRILLLGTAVESAWGDEQSAFRCNTQQPG
CENVCYDKSFPISHVRFWVLQIIFVSVPTLLYLAHVFYVMRKEEKLNKKEEELKVAQTDG
VNVDMHLKQIEIKKFKYGIEEHGKVKMRGGLLRTYIISILFKSIFEVAFLLIQWYIYGFS
LSAVYTCKRDPCPHQVDCFLSRPTEKTIFIIFMLVVSLVSLALNIIELFYVFFKGVKDRV
KGKSDPYHATSGALSPAKDCGSQKYAYFNGCSSPTAPLSPMSPPGYKLVTGDRNNSSCRN
YNKQASEQNWANYSAEQNRMGQAGSTISNSHAQPFDFPDDNQNSKKLAAGHELQPLAIVD
QRPSSRASSRASSRPRPDDLEI

Sequence length

382

Interactions

View interactions

	KEGG		Reactome
	Gap junction Arrhythmogenic right ventricular cardiomyopathy		Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane Gap junction assembly Gap junction degradation Regulation of gap junction activity Formation of annular gap junctions

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)

Show/Hide Causal Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Anteverted nares	Pathogenic	rs1057518872	RCV000414769	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Atrioventricular septal defect and common atrioventricular junction	Likely pathogenic	rs1057518960, rs1773903559	RCV001198403 RCV001199063	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant palmoplantar keratoderma and congenital alopecia	Pathogenic	rs864309644	RCV000185623	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bilateral microphthalmos	Pathogenic	rs1057518872	RCV000414769	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cutaneous finger syndactyly	Pathogenic	rs1057518872	RCV000414769	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Erythrokeratodermia variabilis et progressiva 3	Likely pathogenic; Pathogenic	rs794729675	RCV000185625	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GJA1-related disorder	Pathogenic	rs1582558514	RCV003934840	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic	rs1057518872	RCV000414769	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Oculodentodigital dysplasia	Likely pathogenic; Pathogenic	rs1773899790, rs2114283819, rs2114283459, rs2114283487, rs104893961, rs104893962, rs104893963, rs104893964, rs1582558097, rs28931601, rs1582558666, rs104893966, rs121912969, rs1582558514, rs775689247 View all (9 more)	RCV001329666 RCV001542655 RCV001775339 RCV001801262 RCV003397190 View all (20 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Oculodentodigital dysplasia, autosomal recessive	Likely pathogenic; Pathogenic	rs1773899790, rs2114283106, rs1773901440, rs1773900443, rs2536821904, rs1554200990, rs794729675, rs121912969, rs2536821212, rs267606845, rs104893964, rs28931601, rs121912970, rs267606844, rs1554200992 View all (9 more)	RCV001378531 RCV002037343 RCV001980893 RCV002304501 RCV003037185 View all (19 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Syndactyly type 3	Pathogenic	rs28931600	RCV000018508	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (52)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ANHEDONIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARRHYTHMIAS, CARDIAC	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIAC ARRHYTHMIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cleft palate	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT UPPER LIP	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DISEASE	—	CTD, ClinGen, Disgenet CTD, ClinGen, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ANEURYSM	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOMETAPHYSEAL DYSPLASIA	—	Orphanet Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniometaphyseal dysplasia, autosomal recessive	Conflicting classifications of pathogenicity	ClinVar ClinVar, GenCC, HPO ClinVar, GenCC, HPO	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE TYPE	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ERYTHROKERATODERMIA VARIABILIS	—	Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GREITHER DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HALLERMANN-STREIFF SYNDROME	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HALLERMANNS SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERALGESIA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHY, RIGHT VENTRICULAR	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOPLASTIC LEFT HEART SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoplastic left heart syndrome 1	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
KIDNEY FAILURE, CHRONIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RIGHT VENTRICULAR HYPERTROPHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHWARTZ-LELEK SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Syndactyly	Benign; Likely benign; Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SYNDACTYLY OF FINGERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Syndactyly type 5	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYNDACTYLY, TYPE 3	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYNDACTYLY, TYPE III	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYNDACTYLY, TYPE V	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULAR REMODELING	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (605)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acquired cubitus valgus	Cubitus valgus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	12118378		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	24789679, 30717421		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of rectum	Adenocarcinoma Of Rectum	BEFREE	30809467		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	BEFREE	29277772		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	CTD_human_DG	16926031		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma, Basal Cell	Adenoma	CTD_human_DG	16926031		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma, Microcystic	Adenoma	CTD_human_DG	16926031		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma, Monomorphic	Adenoma	CTD_human_DG	16926031		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma, Trabecular	Adenoma	CTD_human_DG	16926031		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	22766741, 9536272		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia congenita keratosis palmoplantaris	Palmoplantar Keratoderma And Congenital Alopecia	ORPHANET_DG	25168385		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	27083773		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	35312356	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	35312356	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	30518918		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anhedonia	Anhedonia	PSYGENET_DG	22189291		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	30031384		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	BEFREE	30179604		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia	BEFREE	29261731		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anterior segment mesenchymal dysgenesis	Anterior segment mesenchymal dysgenesis	Pubtator	32224865	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	BEFREE	25873300		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	16010294, 18085635, 26549284, 35660807	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	BEFREE	19541548, 22798562, 23465095		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	Pubtator	23178689, 26850880	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	Pubtator	26549284	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	12600918, 19864031, 28342807, 9075822		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	31152853		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	9665389	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	28245135, 29512367		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	37175437	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	15390120, 19604543, 24714982, 25711938, 25873300, 28983585, 29259541		★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	27306693, 38174684	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	12600918, 19864031, 28342807, 9075822		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	28901429	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	8382009	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial cardiomyopathy	Atrial cardiomyopathy	BEFREE	31735076		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	15657225, 16636493, 25200600, 29459676, 30558760, 31545578, 33510344, 35510412	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	BEFREE	20606116, 21542828, 22179534, 23315605, 24825742, 25200600, 28429502, 28440455, 28554986, 29146153, 29459676, 29593565, 29717772, 30571551, 31178968, 31628324, 31661297, 31735076 View all (3 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial fibrillation	Pubtator	21542828	Stimulate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Standstill	Atrial standstill	Pubtator	16636493	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrioventricular Septal Defect	Atrioventricular septal defect	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
ATRIOVENTRICULAR SEPTAL DEFECT 3	Atrioventricular septal defect	UNIPROT_DG	11470490		★★★★★ ★☆☆☆☆ Found in Text Mining only
ATRIOVENTRICULAR SEPTAL DEFECT 3	Atrioventricular septal defect	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	28688235	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	LHGDN	18435417		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	18435417		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	18435417	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant palmoplantar keratoderma and congenital alopecia	Palmoplantar Keratoderma And Congenital Alopecia	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive non-syndromic sensorineural deafness type DFNB	Non-Syndromic Sensorineural Deafness	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Axenfeld-Rieger syndrome	Axenfeld anomaly	BEFREE	16638984		★★★★★ ★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	BEFREE	12649345		★★★★★ ★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	26881528, 28713934, 31766723		★★★★★ ★☆☆☆☆ Found in Text Mining only
Basaran Yilmaz syndrome	Basaran Yilmaz Syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Benign Meningioma	Benign Meningioma	BEFREE	9210880		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bilateral microphthalmos	Microphthalmos	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bladder Neoplasm	Bladder Neoplasm	BEFREE	28074341, 31567382, 31600451, 8187096		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharophimosis	Blepharophimosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	25933380	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases Developmental	Bone disease	Pubtator	23951358	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	25933380	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	19794823	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	BEFREE	15161641, 29134540		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Brain ischemia	Pubtator	19794823	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	11180508, 28983585		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Tumor, Primary	Brain Neoplasms	BEFREE	9932890		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast adenocarcinoma	Breast Adenocarcinoma	BEFREE	24120736		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	11129288, 12064631, 15805269, 17438348, 18193170, 18839320, 19372551, 23321642, 25383624, 26125274, 26283635, 26335100, 26450928, 26879016, 28755423 View all (8 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	29180066		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	15987459, 16567471, 19129556, 20103682, 25881004, 26283635, 26450928, 26879016, 28755423, 28790385, 29620220, 29626091, 30474779, 30992345, 31269652 View all (6 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	40067747	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brugada Syndrome	Brugada syndrome	Pubtator	26516000	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brugada Syndrome (disorder)	Brugada Syndrome	BEFREE	27992820		★★★★★ ★☆☆☆☆ Found in Text Mining only
CAMPOMELIC DYSPLASIA	Campomelic Dysplasia	BEFREE	23951358		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	24815435, 25206281, 28615614, 39459427	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	35456480	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	26299454	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	11833073, 15334670, 23800357	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	34830068	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma in Situ	Carcinoma in situ	Pubtator	16820096	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	28074341, 31567382, 31600451, 8187096		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	24789679, 29528086, 30845770, 31815763, 8950206, 9659581		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	24742583, 35173549, 35439056	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	28004769	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	35287344	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	16857992		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	25374251		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomegaly	Cardiomegaly	Pubtator	19249908	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	LHGDN	12619876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	26850880, 28701670, 29477453, 29893868, 31315456		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	14639017	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated with Left Ventricular Noncompaction	Dilated cardiomyopathy	Pubtator	29176328	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	39189070	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	28874395		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	12380923, 15576650, 28085920, 28874395		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	28551790, 28688235, 29395647, 31314551		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	28688235	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	Pubtator	36674690	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	10767631, 19331825		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract microcornea syndrome	Cataract-microcornea syndrome	Pubtator	25976645, 29380799, 34035645	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central nervous system neoplasm	Pubtator	36726335	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	28752625		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Vasospasm	Cerebral Vasospasm	BEFREE	30369282		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	15161641, 24029957, 29134540, 30872361		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	22766741, 9536272		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	30943209		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic heart failure	Heart Failure	BEFREE	28052545		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	24850151, 30196298, 30564139		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	26306999		★★★★★ ★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	31797899		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	32054069	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	12118378, 21866551, 24752574, 24815435		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Diseases	Colonic disease	Pubtator	23437299	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	27058413	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	9794209		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	21866551, 28455529, 28478804, 28586033, 28810580		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	21866551		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	23386606, 24815435	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	37342072	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Common atrioventricular canal	Complete Atrioventricular Canal Defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Conduct Disorder	Conduct disorder	Pubtator	34882891	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Conduction disorder of the heart	Conduction Disorder Of The Heart	BEFREE	12064616, 22693452, 26085008, 27799555, 28069793, 29197877, 29959233		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	34802252	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital alopecia totalis	Congenital alopecia totalis	HPO_DG			★★★★★ ★☆☆☆☆ 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 Heart Defects	Congenital heart defects	BEFREE	10767631, 19297036, 24115525, 26972693, 27899284, 9201627		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of aortic arch	Hypoplastic aortic arch	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	12676539, 15576650, 18056766, 20167932, 24905188, 28052545, 28085920, 28551790, 28874395, 31114002		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Conotruncal cardiac defects	Conotruncal cardiac defect	Pubtator	16010294	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal Diseases	Corneal Diseases	BEFREE	30805212		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Aneurysm	Coronary Aneurysm	CTD_human_DG	15548583		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	26972693, 28497398, 28923791, 30022020, 30963423		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	34873417	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniometaphyseal dysplasia	Craniometaphyseal Dysplasia	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT	Craniometaphyseal Dysplasia	BEFREE	23951358		★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniometaphyseal dysplasia, autosomal recessive type	Craniometaphyseal dysplasia	UNIPROT_DG	23951358		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniometaphyseal dysplasia, autosomal recessive type	Craniometaphyseal dysplasia	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniometaphyseal dysplasia, autosomal recessive type	Craniometaphyseal dysplasia	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniometaphyseal dysplasia, autosomal recessive type	Craniometaphyseal dysplasia	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis	Craniosynostosis	BEFREE	24119489, 26919292		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cutaneous finger syndactyly	Syndactyly of fingers	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cutaneous Mastocytosis	Cutaneous mastocytosis	BEFREE	28801055		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cyclical vomiting syndrome (disorder)	Cyclical Vomiting Syndrome	BEFREE	30369282		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	26763442	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)	Deafness	BEFREE	11741837		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	23416160, 25496568, 28167212, 28258830, 29258883, 30031384, 30081183, 30234618, 30518918		★★★★★ ★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	23991165, 28981455	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dental Enamel Hypoplasia	Dental Enamel Hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	28429502		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	40133513	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	35468096	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	25398053, 31817921		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	28177159		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	26738943, 27840317		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	26738943, 27840317, 29422835		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	28824303	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	33827531	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28851737		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Cardiomyopathies	Diabetic cardiomyopathy	BEFREE	26827898		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Ketoacidosis	Diabetic Ketoacidosis	BEFREE	30026816		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	16684925, 29587265, 36256487	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	LHGDN	16675599, 16684925		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	29587265, 31281543, 31545399		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	26738943, 31576457		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	33396676	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	36430950	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Distal Myopathies	Distal myopathy	Pubtator	23991165	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diverticular Diseases	Diverticular Diseases	BEFREE	29517710		★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	27323694		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dupuytren Contracture	Dupuytren contracture	Pubtator	24359029	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysferlinopathy	Dysferlinopathy	Pubtator	27229680	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	12457340, 14974090, 16531323, 16816024, 19338053, 19615768, 23675785, 24133447, 25976645, 27226478, 27241686, 28106320		★★★★★ ★☆☆☆☆ Found in Text Mining only
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT	Ectodermal dysplasia	BEFREE	27137747		★★★★★ ★☆☆☆☆ Found in Text Mining only
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE	Ectodermal Dysplasia	BEFREE	27137747		★★★★★ ★☆☆☆☆ Found in Text Mining only
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT	Ectodermal dysplasia	BEFREE	27137747		★★★★★ ★☆☆☆☆ Found in Text Mining only
ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE	Ectodermal dysplasia	BEFREE	27137747		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectrodactyly	Ectrodactyly	Pubtator	19223930	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	30389702		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial Hyperplasia	BEFREE	11433394		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	19820388	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	24270393, 25667189		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	24270393	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	40305294	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Eosinophilic esophagitis	Eosinophilia	BEFREE	31498177		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	21383325, 28983585, 29683209, 31299321, 31610338		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Complex Partial	Epilepsy	BEFREE	9184118		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Cryptogenic	Epilepsy	BEFREE	21383325		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	11180508		★★★★★ ★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	BEFREE	29174980, 30467872		★★★★★ ★☆☆☆☆ Found in Text Mining only
Erythrokeratoderma	Erythrokeratoderma	GENOMICS_ENGLAND_DG	16891658, 25398053		★★★★★ ★☆☆☆☆ Found in Text Mining only
Erythrokeratoderma	Erythrokeratoderma	BEFREE	23675785		★★★★★ ★☆☆☆☆ Found in Text Mining only
Erythrokeratodermia variabilis	Erythrokeratodermia Variabilis	BEFREE	25398053, 25964267, 30924322		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Erythrokeratodermia variabilis	Erythrokeratodermia Variabilis	ORPHANET_DG	25398053		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Erythrokeratodermia Variabilis	Erythrokeratodermia variabilis	Pubtator	25398053, 25964267, 30924322	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Erythrokeratodermia variabilis	Erythrokeratodermia Variabilis	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1	Erythrokeratodermia Variabilis Et Progressiva	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3	Erythrokeratodermia Variabilis Et Progressiva	GENOMICS_ENGLAND_DG	16891658, 25398053		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3	Erythrokeratodermia Variabilis Et Progressiva	UNIPROT_DG	25398053		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3	Erythrokeratodermia Variabilis Et Progressiva	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Erythrokeratodermia with ataxia	Erythrokeratodermia with ataxia	Pubtator	26604139	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	14532970		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	14532970		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	28771997	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	28910394		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	23313578		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eye Abnormalities	Eye abnormalities	Pubtator	34035645	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial dilated cardiomyopathy	Cardiomyopathy	BEFREE	20497714		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibroadenoma	Fibroadenoma	LHGDN	15948121		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	8238195, 8835382		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	10933914, 12203365		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fifth finger distal phalanx clinodactyly	Fifth finger distal phalanx clinodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fingernail dysplasia	Fingernail dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
First degree atrioventricular block	Atrioventricular block	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fleck corneal dystrophy	Fleck Corneal Dystrophy	BEFREE	21383325		★★★★★ ★☆☆☆☆ Found in Text Mining only
Follicular adenoma	Adenoma	CTD_human_DG	16926031		★★★★★ ★☆☆☆☆ Found in Text Mining only
Follicular Cyst	Follicular cyst	Pubtator	40305294	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastritis Atrophic	Gastritis	Pubtator	25206281	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	15938003		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	21607924	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Giant Cell Tumor of Bone	Giant cell tumor of bone	Pubtator	18266960, 25933380	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Giant Cell Tumor of Bone	Giant cell tumor of bone	BEFREE	25933380		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	16219735, 16638984, 18425059, 20090922, 25976645, 30628995, 30767687		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	LHGDN	17551925		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	25976645, 34035645	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma of childhood	Glaucoma	BEFREE	16638984		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	25976645	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma, Open-Angle	Glaucoma	BEFREE	25976645		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	30816600		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	10933914, 11279616, 11746825, 12019157, 21779029, 21882259, 22294051, 25753094, 28712848, 29115581, 29931708, 30974966, 31314551, 9823317		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	LHGDN	12019157, 18600256		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	15715906, 24675463, 34654721, 35919821	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	25926558, 27306693	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	10933914, 11180508, 11279616, 11746825, 12019157, 21779029, 21882259, 22294051, 23978378, 25753094, 25926558, 28712848, 29115581, 29931708, 30941001, 30974966, 31314551, 9823317 View all (3 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	11180508, 19656565, 20074329, 22131169, 24045413, 24457967, 24714982, 25631631, 25711938, 25873300, 25926558, 26265140, 28983585, 29106645, 30280947, 30941001, 31781504, 9823317 View all (3 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	20074329, 25926558, 27306693, 31012516, 33649836, 34173871, 35919821, 36726335, 36739296	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	26191122	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
gliosarcoma	Gliosarcoma	BEFREE	9932890		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	16775601	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	27568096	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis (disorder)	Glomerulosclerosis	BEFREE	24850151		★★★★★ ★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	19321193		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hallermann`s Syndrome	Hallermann`s Syndrome	UNIPROT_DG	14974090		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hallermann`s Syndrome	Hallermann`s Syndrome	GENOMICS_ENGLAND_DG	21670345		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	19321193		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	24785695	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	21254920	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss, Mixed Conductive-Sensorineural	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	7715640	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	20167932, 20497714, 27992820, 29984651		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	24427266, 24751918, 28824303, 7715640	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	12676539, 15576650, 20167932, 24905188, 28052545, 28085920, 28551790, 28874395, 31114002		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	17760848, 18056766, 27766024, 28052545	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	LHGDN	18056766		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	20093630	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	23800357	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	10873295		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrophthalmos	Glaucoma, congenital	BEFREE	16638984		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	BEFREE	28134630		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	9075822		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	23985558, 28824303, 34639171	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	28713934, 28824303		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	BEFREE	16709485		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	Pubtator	34035645	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypersomnia	Hypersomnia	BEFREE	28867552		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	37381027	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertension	Hypertension	Pubtator	39595551	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	CTD_human_DG	16448880		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	28551790		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperthyroidism	Hyperthyroidism	BEFREE	27600718		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	LHGDN	17885214		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	16010294	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypomineralization of enamel of tooth	Hypomineralization Of Enamel Of Tooth	BEFREE	30013481		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of teeth	Hypoplasia of teeth	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplastic Left Heart Syndrome	Hypoplastic Left Heart Syndrome	ORPHANET_DG	11470490, 19298922, 19683641		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoplastic Left Heart Syndrome	Hypoplastic left heart syndrome	Pubtator	22405962	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoplastic Left Heart Syndrome	Hypoplastic Left Heart Syndrome	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoplastic Left Heart Syndrome	Hypoplastic Left Heart Syndrome	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoplastic Left Heart Syndrome	Hypoplastic Left Heart Syndrome	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOPLASTIC LEFT HEART SYNDROME 1	Hypoplastic Left Heart Syndrome	UNIPROT_DG	11470490		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYPOPLASTIC LEFT HEART SYNDROME 1	Hypoplastic Left Heart Syndrome	GENOMICS_ENGLAND_DG	21670345		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYPOPLASTIC LEFT HEART SYNDROME 1	Hypoplastic Left Heart Syndrome	CLINVAR_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypospadias	Hypospadias	Pubtator	19808103	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothalamic hamartomas	Hypothalamic Hamartomas	BEFREE	27428422		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	27600718, 28471544		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	Pubtator	36768546	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	26221040, 36208715	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	27766024, 35919821, 37929653	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyosis Bullosa of Siemens	Ichthyosis Bullosa Of Siemens	BEFREE	29027719		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	30502350		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	17005044	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	31752090		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	10657974, 12203365		★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	25101702, 30031059, 31270712, 31285774		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	27417573, 29324356		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	27417573	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	19808103	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intestinal Diseases	Intestinal disease	Pubtator	25206281	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intracranial Meningioma	Intracranial Meningioma	BEFREE	9210880		★★★★★ ★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron overload	Pubtator	38040893	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron overload	Pubtator	38500328	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	29027719, 29324356		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic cardiomyopathy	Ischemic myocardial dysfunction	BEFREE	28928157, 31484876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	30593877		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kearns-Sayre syndrome	Kearns Sayre Syndrome	BEFREE	30280217		★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratitis	Keratitis	BEFREE	30661459, 30805212		★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratitis Ichthyosis Deafness Syndrome	Keratitis ichthyosis deafness syndrome	Pubtator	25625422	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratitis-Ichthyosis-Deafness Syndrome	Keratitis ichthyosis and deafness syndrome	BEFREE	25625422		★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	BEFREE	15551259, 16891658, 19808103, 25388818, 26763442		★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	GENOMICS_ENGLAND_DG	16891658, 25398053		★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratosis	Keratosis	Pubtator	36768546	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratosis pilaris	Keratosis pilaris	BEFREE	28878091		★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratosis pilaris	Keratosis pilaris	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	16684925	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	24850151, 28667079, 29246788		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	31601792		★★★★★ ★☆☆☆☆ Found in Text Mining only
Large cell carcinoma of lung	Lung Carcinoma	BEFREE	30717421		★★★★★ ★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	24945745		★★★★★ ★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	38110991	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	19249908		★★★★★ ★☆☆☆☆ Found in Text Mining only
Left ventricular noncompaction cardiomyopathy	Cardiomyopathy	BEFREE	29176328		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	26446715	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	26517241		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	37554265	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	25529637, 34539009	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	16741927		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	BEFREE	30144323		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy Hypomyelinating 2	Hypomyelinating leukodystrophy	Pubtator	19056803	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	BEFREE	31285774		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	11833073, 15334670, 2173931, 31307202		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	12717835, 15334670, 17275998		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Alcoholic	Liver cirrhosis	Pubtator	34978341	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	14519646, 30845770		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	LHGDN	14519646		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	CTD_human_DG	15166089, 16926031		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung neoplasms	Pubtator	19056535	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung neoplasms	Pubtator	23621211, 26880274, 29528086, 32338437, 33003547, 39459427	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphangioleiomyomatosis	Lymphangiomyomatosis	BEFREE	15972957		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	16567471, 33485292	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	19056535	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	23621211, 26748803, 34590921, 35287344	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	25815348	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Madelung Deformity	Madelung deformity	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	PSYGENET_DG	18585900		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	BEFREE	28645745, 30618870		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant Bone Neoplasm	Malignant Bone Neoplasm	BEFREE	29867362		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	19851353, 22131169, 22294051, 24457967, 29803991, 31634381		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	26003083		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	11129288, 12064631, 15805269, 17438348, 18193170, 18839320, 19372551, 23321642, 25383624, 26125274, 26283635, 26335100, 26450928, 26879016, 27400952 View all (10 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	29180066		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	30389702		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	14532970, 28771997		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	29393359, 31307202		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	CTD_human_DG	15166089, 16926031		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	23621211, 24789679, 29528086, 30845770, 8950206		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	25374251		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	19908168, 21388975, 31678166		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	12205082, 15891776, 16652385, 17143533, 21910090, 22161782, 22226139, 22785209, 25960544, 26491675, 26881528, 28396058, 28651025, 29534587		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	17199135		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	CTD_human_DG	7586191		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	24040271, 26318481		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of testis	Malignant Neoplasm Of Testis	BEFREE	29571253		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	28074341, 31567382, 31600451, 8187096		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12118378, 15567553, 17275998, 19372551, 19908168, 21866551, 21882259, 21910090, 22918484, 23321642, 23621211, 23865425, 24815435, 25926558, 25960544 View all (23 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Testicular Germ Cell Tumor	Malignant testicular germ cell tumor	BEFREE	29571253		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	12118378, 21866551, 24752574, 24815435		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	29180066		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	12042301, 12064631, 18193170, 18839320		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	12064631, 17438348, 21151177, 24120736, 26002762, 29312613, 30939738, 31555649		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	29180066		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	29180066		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	22766741, 9536272		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	19679555, 21642354, 23042412, 23321642, 28607585, 28677156, 30717194, 30779062, 31217730		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	19679555, 26221040, 33793070, 35682601	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	30779062	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	LHGDN	12484567		★★★★★ ★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	36726335	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	9210880		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	28429502		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	29066951		★★★★★ ★☆☆☆☆ Found in Text Mining only
Merkel cell carcinoma	Merkel cell carcinoma	BEFREE	31809272		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	19652456, 26003083, 28602541, 7955125		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	19652456, 28602541	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	26003083	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcornea	Microcornea	BEFREE	25976645, 30767687		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcornea	Microcornea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microdontia (disorder)	Microdontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	Pubtator	29380799	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Milroy Disease	Milroy Disease	BEFREE	23550541		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitral Valve Stenosis	Mitral Valve Stenosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	23524428	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	12457340, 14974090, 16531323, 16816024, 19338053, 19615768, 23675785, 24133447, 25976645, 27226478, 27241686, 28106320		★★★★★ ★☆☆☆☆ Found in Text Mining only
Moyamoya Disease	Moyamoya Disease	BEFREE	29395647		★★★★★ ★☆☆☆☆ Found in Text Mining only
Moyamoya disease 1	Moyamoya disease	BEFREE	29395647		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	12457340, 14974090, 16531323, 16816024, 19338053, 19615768, 23675785, 24133447, 25976645, 27226478, 27241686, 28106320		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	24724781, 28144277, 29181063		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	37661187	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	22484441, 25101702, 25937052, 27929069, 30464764, 30541963		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	23991165	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	28981455	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	26311238, 29477453, 31751316		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	28052545	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	26009200, 26972693, 28158934, 28497398, 28642276, 28716730, 28929261, 29094045, 29228446, 29742489, 29976952, 30305684, 30333316, 30353364, 30582443, 31080351, 31555539 View all (2 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	35942675	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial ischemia	Pubtator	19794823	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial ischemia	Pubtator	19879542, 34639171	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	26972693, 28497398, 28923791, 30022020, 30963423		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial necrosis	Myocardial necrosis	BEFREE	26972693		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	BEFREE	29121655, 29664174		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	Pubtator	32054069	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	29346494, 29380799	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9	Nail Diseases	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nail dysplasia	Nail dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	17306607		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Neoplasms	Nasopharyngeal Neoplasms	BEFREE	17487363		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10836996, 11180508, 11746825, 11929829, 12019157, 12118378, 12203365, 1324944, 14519646, 15523693, 15567553, 15838263, 16820904, 17143533, 17455098 View all (50 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrosis congenital	Nephrotic syndrome	Pubtator	32471989	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	25398053	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	21954174		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	27809287, 28488330, 28507509, 30910801		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegeneration with brain iron accumulation (NBIA)	Nephropathy with Pretibial Epidermolysis Bullosa and Deafness	BEFREE	21816641		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	12457340	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	21816641, 30938188		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurogenic Urinary Bladder	Neurogenic Urinary Bladder	BEFREE	30070388		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurogenic Urinary Bladder	Neurogenic Urinary Bladder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	29066951		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	14519646, 20651379, 23621211, 30453281, 31485592		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	CLINGEN_DG	11741837, 14986102, 23817980		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	BEFREE	20130915, 24785695		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	29246788, 30446908		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oculo-dento-digital syndrome	Oculodentodigital dysplasia	GENOMICS_ENGLAND_DG	1057461, 21273537, 21670345, 23550541, 24357685, 24508941		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oculo-dento-digital syndrome	Oculodentodigital dysplasia	BEFREE	12457340, 14974090, 15108203, 15551259, 15879313, 16155213, 16219735, 16378922, 16418219, 16531323, 16638984, 16709485, 16816024, 16891658, 17256797 View all (45 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oculo-dento-digital syndrome	Oculodentodigital dysplasia	ORPHANET_DG	16378922, 24508941		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oculo-dento-digital syndrome	Oculodentodigital dysplasia	UNIPROT_DG	16816024		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oculo-dento-digital syndrome	Oculodentodigital dysplasia	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Oculo-dento-digital syndrome	Oculodentodigital dysplasia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Oculodentodigital dysplasia	Oculodentodigital dysplasia	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Oculodentodigital Dysplasia, Autosomal Recessive	Oculodentodigital dysplasia	CLINVAR_DG	17901047, 18003637, 18946008, 19338053, 25388818, 27226478		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Oculodentodigital Dysplasia, Autosomal Recessive	Oculodentodigital dysplasia	GENOMICS_ENGLAND_DG	21670345, 23550541		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Oculodentodigital Dysplasia, Autosomal Recessive	Oculodentodigital dysplasia	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	29180066		★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic atrophy	Pubtator	19808103	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE	Ossification Of The Posterior Longitudinal Ligament Of Spine	BEFREE	21311398, 28338575		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteitis Deformans	Paget disease	BEFREE	18266960		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	23416160	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	25903580, 30518918, 33671114, 35931686, 39390589	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteolysis	Osteolysis	Pubtator	23313578	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	21346198, 25933380, 31016065		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopetrosis	Osteopetrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	29340064		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	16647893		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	25374251		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	11943708, 25374251, 26823747	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
PACHYONYCHIA CONGENITA 3	Pachyonychia Congenita	BEFREE	17143533, 22226139		★★★★★ ★☆☆☆☆ Found in Text Mining only
Paget Disease	Paget disease	BEFREE	18266960		★★★★★ ★☆☆☆☆ Found in Text Mining only
Palmar hyperkeratosis	Palmar hyperkeratosis	BEFREE	17256797		★★★★★ ★☆☆☆☆ Found in Text Mining only
PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1	Palmoplantar Keratoderma And Congenital Alopecia	GENOMICS_ENGLAND_DG	16891658, 25398053		★★★★★ ★☆☆☆☆ Found in Text Mining only
PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1	Palmoplantar Keratoderma And Congenital Alopecia	BEFREE	25168385, 30631135		★★★★★ ★☆☆☆☆ Found in Text Mining only
PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1	Palmoplantar Keratoderma And Congenital Alopecia	UNIPROT_DG	25168385		★★★★★ ★☆☆☆☆ Found in Text Mining only
PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1	Palmoplantar Keratoderma And Congenital Alopecia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Palmoplantar Keratosis	Palmoplantar Keratosis	LHGDN	16891658		★★★★★ ★☆☆☆☆ Found in Text Mining only
Palmoplantar Keratosis	Palmoplantar Keratosis	BEFREE	25388818		★★★★★ ★☆☆☆☆ Found in Text Mining only
Palmoplantar Keratosis	Palmoplantar Keratosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	19908168, 21388975, 31678166		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	15870276, 23363606, 24742583, 33839271	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary adenoma	Papillary Adenoma	CTD_human_DG	16926031		★★★★★ ★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	Pubtator	12457340, 22214631	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	40133513	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Partial atrioventricular canal	Partial atrioventricular canal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Patchy palmoplantar keratoderma	Patchy palmoplantar keratoderma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	24742583		★★★★★ ★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	22214631	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	24040271	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Persistent pupillary membranes	Persistent Pupillary Membranes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	35456480	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	28004769, 32190671	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly preaxial type 1	Polydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary familial brain calcification	Brain Calcification	BEFREE	26444782		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary malignant neoplasm of brain	Brain Neoplasms	BEFREE	25711938		★★★★★ ★☆☆☆☆ Found in Text Mining only
Progeria	Progeria	BEFREE	27799555		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	12205082, 15891776, 16652385, 17143533, 21910090, 22161782, 22226139, 22785209, 25960544, 26491675, 26881528, 28396058, 28651025, 29534587		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Diseases	Prostatic Diseases	BEFREE	28176351		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	12205082, 17200141, 21910090, 26491675, 26881528, 27623212, 32953881	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	17143533		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	17199135		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	BEFREE	30171832		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	30171832	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pyle metaphyseal dysplasia	Pyle Metaphyseal Dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	30809467		★★★★★ ★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	31735076		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	24850151, 27840317		★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory Tract Diseases	GWASCAT_DG	30595370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	29891713		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	31735076		★★★★★ ★☆☆☆☆ Found in Text Mining only
Right ventricle hypoplasia	Right ventricle hypoplasia	Pubtator	16010294	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	23313578	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schwartz-Jampel Syndrome	Schwartz-Jampel Syndrome	BEFREE	31314143		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schwartz-Lelek syndrome	Craniometaphyseal dysplasia	BEFREE	23951358		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schwartz-Lelek syndrome	Craniometaphyseal dysplasia	ORPHANET_DG	23951358		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seminoma	Seminoma	LHGDN	16820096		★★★★★ ★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	Pubtator	16820096	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	21254920		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	28978514, 30655582, 30735126		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe dermatitis, multiple allergies, metabolic wasting syndrome	Dermatitis	BEFREE	31465738		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sinus Node Dysfunction (disorder)	Sinus Node Dysfunction	BEFREE	24825742		★★★★★ ★☆☆☆☆ Found in Text Mining only
Situs ambiguus	Situs ambiguus	BEFREE	8873667, 9155619		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Abnormalities	Skin abnormalities	Pubtator	36768546	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	25398053, 26763442	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	30839347		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skin Neoplasms	Skin Neoplasms	CTD_human_DG	7586191		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skin Neoplasms	Skin Neoplasms	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	28124622		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	19056803	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	26447893, 26535624		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	23524428, 26748803, 26758208, 35371339, 35717615, 39459468, 39941000	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	31766723		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the hypopharynx	Hypopharyngeal Carcinoma	BEFREE	31766723		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	31766723		★★★★★ ★☆☆☆☆ Found in Text Mining only
ST segment elevation myocardial infarction	ST Segment Elevation Myocardial Infarction	BEFREE	28642043		★★★★★ ★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	30056318		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	24040271, 25901741		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	24040271, 25206281, 32888389, 33485292, 34590921	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	30369282		★★★★★ ★☆☆☆☆ Found in Text Mining only
Supraventricular tachycardia	Supraventricular tachycardia	BEFREE	28288337		★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	BEFREE	17509830, 23951358		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Syndactyly	Syndactyly	Pubtator	23951358, 25976645	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Syndactyly of fingers	Syndactyly of fingers	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Syndactyly of the toes	Syndactyly Of The Toes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly type 3	Syndactyly	Pubtator	23951358	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SYNDACTYLY, TYPE III	Syndactyly	ORPHANET_DG	12457340, 14729836		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYNDACTYLY, TYPE III	Syndactyly	UNIPROT_DG	14729836		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYNDACTYLY, TYPE III	Syndactyly	GENOMICS_ENGLAND_DG	21670345		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYNDACTYLY, TYPE III	Syndactyly	BEFREE	23951358, 24115525		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYNDACTYLY, TYPE III	Syndactyly	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYNDACTYLY, TYPE III	Syndactyly	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tachycardia Ventricular	Ventricular tachycardia	Pubtator	14639017, 26549284	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tachycardia Ventricular	Ventricular tachycardia	Pubtator	18811803	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tachycardia, Ventricular	Ventricular tachycardia	BEFREE	15576650, 18064002, 22240500, 28052545, 29739982, 30371209		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tangier Disease	Tangier Disease	BEFREE	31629948		★★★★★ ★☆☆☆☆ Found in Text Mining only
Taurodontism	Taurodontism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Testicular Diseases	Testicular Diseases	BEFREE	22918484, 23865425		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	LHGDN	16010294		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of fallot	Pubtator	16010294, 24751918, 28874875, 35011735	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	BEFREE	24146179, 28874875		★★★★★ ★☆☆☆☆ Found in Text Mining only
Toxic Epidermal Necrolysis	Stevens-Johnson Syndrome	BEFREE	31314143		★★★★★ ★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	19638688		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	26125274		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	15972957		★★★★★ ★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	PSYGENET_DG	18585900		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	BEFREE	28645745		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Diseases	Urinary bladder diseases	Pubtator	39500676	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	26251520, 31567382	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neurogenic	Neurogenic bladder	Pubtator	39500676	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	31012516, 33299882	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	8238195, 8835382		★★★★★ ★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	BEFREE	28803831		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	BEFREE	12064616, 12380923, 28052545, 28158934, 28288337, 30022020, 30446908, 30474396, 30516302, 30740090, 30784925, 30981509, 31484876, 31555539		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction	Ventricular dysfunction	Pubtator	14639017	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular fibrillation	Pubtator	18811803	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular Fibrillation	BEFREE	24427266, 27600718, 31408542		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular fibrillation	Pubtator	24427266, 35942675	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Remodeling	Ventricular remodeling	Pubtator	22405962	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	BEFREE	23352489, 29577408		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	BEFREE	16217373		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vesicoureteral Reflux 1	Vesicoureteral Reflux	BEFREE	16217373		★★★★★ ★☆☆☆☆ Found in Text Mining only

GJA1 (gap junction protein alpha 1)