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

477

Show/Hide Causal Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Anteverted nares	Pathogenic	rs1057518872	RCV000414769
Atrioventricular septal defect and common atrioventricular junction	Likely pathogenic	rs1057518960, rs1773903559	RCV001198403 RCV001199063
Autosomal dominant palmoplantar keratoderma and congenital alopecia	Pathogenic	rs864309644	RCV000185623
Bilateral microphthalmos	Pathogenic	rs1057518872	RCV000414769
Cutaneous finger syndactyly	Pathogenic	rs1057518872	RCV000414769
Erythrokeratodermia variabilis et progressiva 3	Likely pathogenic; Pathogenic	rs794729675	RCV000185625
GJA1-related disorder	Pathogenic	rs1582558514	RCV003934840
Intellectual disability	Pathogenic	rs1057518872	RCV000414769
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 RCV000018503 RCV000018504 RCV000018505 RCV000018506 RCV000018507 RCV000018509 RCV000018510 RCV000018515 RCV000018516 RCV000018517 RCV003988719 RCV004555189 RCV000022517 RCV000504313 RCV000500645 RCV000502204 RCV002527897 RCV005253024 RCV000074385 RCV001391613
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 RCV003084865 RCV002516956 RCV003518063 RCV003518753 RCV003518754 RCV000691386 RCV005089271 RCV000018518 RCV000018519 RCV002524189 RCV003517211 RCV000560533 RCV000549390 RCV000557512 RCV000646780 RCV000646779 RCV001046978 RCV001210770 RCV001210771
Syndactyly type 3	Pathogenic	rs28931600	RCV000018508

Show/Hide Unknown Diseases (15)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Conflicting classifications of pathogenicity	rs56199702	RCV005899032
Cleft palate	Uncertain significance	rs138386744	RCV005626443
Craniometaphyseal dysplasia, autosomal recessive	Conflicting classifications of pathogenicity	rs764670582	RCV000185622
Familial cancer of breast	Conflicting classifications of pathogenicity	rs56199702	RCV005899030
Gastric cancer	Conflicting classifications of pathogenicity	rs56199702	RCV005899035
Hypoplastic left heart syndrome 1	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs57946868, rs397824185, rs539558089, rs111581053, rs886061010, rs886061012, rs139128953, rs72548748, rs528853645, rs886061022, rs764033415, rs56199702, rs886061011, rs397698276, rs111878880 View all (45 more)	RCV000402105 RCV000293935 RCV000277770 RCV000364357 RCV000348847 RCV000261624 RCV000381548 RCV000340720 RCV000385368 RCV000288331 RCV000400437 RCV000284492 RCV000302991 RCV000379823 RCV000397040 RCV000271029 RCV000400715 RCV000261548 RCV000296946 RCV000285882 RCV000349696 RCV000333992 RCV000325141 RCV000397032 RCV000321742 RCV000345686 RCV000365711 RCV000357984 RCV000259758 RCV000308917 RCV000359955 RCV000286949 RCV000357324 RCV000369374 RCV000308963 RCV000018511 RCV000018513 RCV000313768 RCV001157434 RCV001153119 RCV001153004 RCV001155652 RCV001151879 RCV001153118 RCV001153122 RCV001155729 RCV001157430 RCV001157432 RCV001151963 RCV001153225 RCV001152063 RCV001153329 RCV001155940 RCV001155941 RCV001157642 RCV001152177 RCV001153456 RCV001153458 RCV001156042 RCV001156044 RCV001152277 RCV001152280 RCV001153556 RCV001153557
Lung cancer	Conflicting classifications of pathogenicity	rs56199702	RCV005899038
Lymphoma	Conflicting classifications of pathogenicity	rs56199702	RCV005899036
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity	rs56199702	RCV005899031
Ovarian cancer	Conflicting classifications of pathogenicity	rs56199702	RCV005899033
Sarcoma	Conflicting classifications of pathogenicity	rs56199702	RCV005899034
Syndactyly	Benign; Likely benign; Uncertain significance	rs397824185, rs397698276, rs886061018, rs375943953, rs78394273	RCV000319506 RCV000322948 RCV000278385 RCV000328478 RCV000348773 RCV000360032 RCV000264223 RCV000277207
Syndactyly type 5	Uncertain significance	rs1582558792	RCV001029812
Thymoma	Conflicting classifications of pathogenicity	rs56199702	RCV005899037
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity	rs56199702	RCV005899039

Show/Hide Text Mining Associations (255)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
3 Hydroxy 3 Methylglutaryl CoA Lyase Deficiency	Associate	23141803
Acidosis	Associate	35942675
Acute Disease	Inhibit	26446715
Adamantinoma	Associate	29444796
Adenocarcinoma	Associate	35287344
Adenocarcinoma of Lung	Associate	35287344
Amyotrophic Lateral Sclerosis	Associate	35312356
Amyotrophic Lateral Sclerosis	Stimulate	35312356
Anterior segment mesenchymal dysgenesis	Associate	32224865
Arrhythmias Cardiac	Associate	16010294, 18085635, 26549284, 35660807
Arrhythmogenic Right Ventricular Dysplasia	Associate	23178689, 26850880
Arrhythmogenic Right Ventricular Dysplasia	Inhibit	26549284
Arthritis Psoriatic	Associate	9665389
Ascites	Associate	29085834
Asthma	Associate	37175437
Astrocytoma	Associate	27306693, 38174684
Atherosclerosis	Stimulate	28901429
Atherosclerosis	Associate	8382009
Atrial Fibrillation	Associate	15657225, 16636493, 25200600, 29459676, 30558760, 31545578, 33510344, 35510412
Atrial Fibrillation	Stimulate	21542828
Atrial Remodeling	Associate	17760848
Atrial Standstill	Associate	16636493
Atrophy	Associate	28688235
Autistic Disorder	Associate	18435417
Bone Diseases	Associate	25933380
Bone Diseases Developmental	Associate	23951358
Bone Diseases Metabolic	Associate	25933380
Brain Diseases	Associate	19794823
Brain Ischemia	Associate	19794823
Breast Neoplasms	Associate	15987459, 16567471, 19129556, 20103682, 25881004, 26283635, 26450928, 26879016, 28755423, 28790385, 29620220, 29626091, 30474779, 30992345, 31269652 View all (6 more)
Breast Neoplasms	Inhibit	40067747
Brugada Syndrome	Inhibit	26516000
Carcinogenesis	Associate	24815435, 25206281, 28615614, 39459427
Carcinogenesis	Inhibit	35456480
Carcinoma Endometrioid	Associate	26299454
Carcinoma Hepatocellular	Associate	11833073, 15334670, 23800357
Carcinoma Hepatocellular	Stimulate	34830068
Carcinoma in Situ	Inhibit	16820096
Carcinoma Non Small Cell Lung	Inhibit	23621211
Carcinoma Non Small Cell Lung	Associate	30453281, 39459427
Carcinoma Pancreatic Ductal	Associate	24742583, 35173549, 35439056
Carcinoma Renal Cell	Associate	28004769
Carcinoma Squamous Cell	Associate	35287344
Cardiomegaly	Associate	19249908
Cardiomyopathy Dilated	Associate	14639017
Cardiomyopathy Dilated with Left Ventricular Noncompaction	Associate	29176328
Cardiomyopathy Hypertrophic	Inhibit	39189070
Cardiovascular Diseases	Associate	28688235
Carotid Stenosis	Associate	36674690
Cataract microcornea syndrome	Associate	25976645, 29380799, 34035645
Central Nervous System Neoplasms	Associate	36726335
Cognition Disorders	Associate	32054069
Colonic Diseases	Associate	23437299
Colonic Neoplasms	Associate	27058413
Colorectal Neoplasms	Associate	23386606, 24815435
Colorectal Neoplasms	Inhibit	37342072
Conduct Disorder	Associate	34882891
Congenital Abnormalities	Associate	34802252
Conotruncal cardiac defects	Associate	16010294
Coronary Disease	Associate	34873417
COVID 19	Inhibit	34436630
Creutzfeldt Jakob Syndrome	Associate	30009661
Cysts	Associate	32521795
Daneman Davy Mancer syndrome	Associate	23951358
Deafness	Associate	26763442
Demyelinating Diseases	Associate	23991165, 28981455
Depressive Disorder	Associate	40133513
Depressive Disorder Major	Associate	35468096
Diabetes Mellitus	Associate	28824303
Diabetes Mellitus Type 1	Associate	33827531
Diabetic Nephropathies	Associate	16684925, 29587265, 36256487
Diabetic Retinopathy	Associate	33396676
Diabetic Retinopathy	Stimulate	36430950
Distal Myopathies	Associate	23991165
Drug Related Side Effects and Adverse Reactions	Associate	19652456
Drug Related Side Effects and Adverse Reactions	Stimulate	26003083
Drug Related Side Effects and Adverse Reactions	Inhibit	28790385
Dupuytren Contracture	Associate	24359029
Dysferlinopathy	Associate	27229680
Ectrodactyly	Associate	19223930
Endometrial Neoplasms	Associate	19820388
Endometriosis	Inhibit	24270393
Endometriosis	Stimulate	40305294
Epileptic Syndromes	Associate	36768546
Erythrokeratodermia Variabilis	Associate	25398053, 25964267, 30924322
Erythrokeratodermia with ataxia	Associate	26604139
Esophageal Neoplasms	Associate	28771997
Eye Abnormalities	Associate	34035645
Fibrosis	Associate	36256487
Follicular Cyst	Associate	40305294
Gastritis Atrophic	Associate	25206281
Gastrointestinal Stromal Tumors	Associate	21607924
Genetic Diseases Inborn	Associate	23951358, 33080786, 34035645, 7715640
Giant Cell Tumor of Bone	Associate	18266960, 25933380
Glaucoma	Associate	25976645, 34035645
Glaucoma Open Angle	Associate	25976645
Glioblastoma	Associate	15715906, 24675463, 34654721, 35919821
Glioblastoma	Inhibit	25926558, 27306693
Glioma	Associate	20074329, 25926558, 27306693, 31012516, 33649836, 34173871, 35919821, 36726335, 36739296
Glioma	Inhibit	26191122
Gliosis	Associate	28981455
Glomerulonephritis Membranous	Stimulate	16775601
Glomerulonephritis Membranous	Associate	27568096
Granulosa Cell Tumor	Associate	22012769
Hearing Loss	Associate	24785695
Hearing Loss Sensorineural	Associate	21254920
Heart Defects Congenital	Associate	7715640
Heart Diseases	Associate	24427266, 24751918, 28824303, 7715640
Heart Failure	Associate	17760848, 18056766, 27766024, 28052545
Heart Failure	Inhibit	20093630
Hepatitis B	Associate	23800357
Hereditary leiomyomatosis and renal cell cancer	Associate	11379007
Heterotaxy visceral X linked	Associate	7715640
HIV Infections	Stimulate	24134157, 26934876
HIV Infections	Associate	28688235
Hyperglycemia	Inhibit	23985558, 28824303, 34639171
Hyperglycemic Hyperosmolar Nonketotic Coma	Associate	34639171
Hyperopia	Associate	34035645
Hyperostosis	Associate	36768546
Hyperostosis corticalis deformans juvenilis	Associate	18266960
Hypertension	Associate	37381027
Hypertension	Inhibit	39595551
Hypertrophy	Associate	16010294
Hypoplastic Left Heart Syndrome	Associate	22405962
Hypospadias	Associate	19808103
Hypothalamic hamartomas	Associate	27428422
Hypotrichosis	Associate	36768546
Hypoxia	Associate	26221040, 36208715
Hypoxia	Stimulate	27766024, 35919821, 37929653
Hypoxia Brain	Stimulate	26221040
Idiopathic Pulmonary Fibrosis	Inhibit	17005044
Inflammation	Associate	14681029, 24967639, 25903580, 30992345, 31281543, 35628386, 35682601, 35931686, 36901745
Inflammation	Stimulate	27417573
Inflammatory Bowel Diseases	Associate	27417573
Intellectual Disability	Associate	19808103
Intestinal Diseases	Associate	25206281
Iron Overload	Inhibit	38040893
Iron Overload	Associate	38500328
Ischemia	Associate	19879542
Keratitis Ichthyosis Deafness Syndrome	Associate	25625422
Keratoderma Palmoplantar	Associate	26763442
Keratosis	Associate	36768546
Kidney Diseases	Associate	16684925
Klinefelter Syndrome	Associate	31739598
Laterality Defects Autosomal Dominant	Associate	7715640
Lead Poisoning Nervous System	Associate	28688235
Learning Disabilities	Associate	38110991
Leukemia	Inhibit	26446715
Leukemia	Associate	37554265
Leukemia Myeloid Acute	Associate	25529637, 34539009
Leukodystrophy Hypomyelinating 2	Associate	19056803
Leukoencephalopathies	Associate	19056803
Liver Cirrhosis Alcoholic	Associate	34978341
Lung Neoplasms	Inhibit	19056535
Lung Neoplasms	Associate	23621211, 26880274, 29528086, 32338437, 33003547, 39459427
Lymphatic Metastasis	Stimulate	16567471, 33485292
Lymphatic Metastasis	Inhibit	19056535
Lymphatic Metastasis	Associate	23621211, 26748803, 34590921, 35287344
Lymphoma B Cell Marginal Zone	Associate	26850880
Lymphoma Follicular	Associate	25815348
Malformations of Cortical Development Group I	Associate	28824303
Megalencephalic leukoencephalopathy with subcortical cysts	Associate	32521795
Melanoma	Associate	19679555, 26221040, 33793070, 35682601
Melanoma	Inhibit	30779062
Meningioma	Associate	36726335
Mesothelioma	Associate	19652456, 28602541
Mesothelioma Malignant	Associate	26003083
Microphthalmos	Associate	29380799
Mitral Valve Stenosis	Associate	15657225
Mouth Neoplasms	Associate	23524428
Multiple Myeloma	Associate	37661187
Multiple Sclerosis	Inhibit	23991165
Multiple Sclerosis	Associate	28981455
Myelodysplastic Syndromes	Stimulate	28052545
Myocardial Infarction	Associate	35942675
Myocardial Ischemia	Stimulate	19794823
Myocardial Ischemia	Associate	19879542, 34639171
Myocarditis	Associate	32054069
Myopia	Associate	29346494, 29380799
Neoplasm Invasiveness	Associate	34654721
Neoplasm Metastasis	Associate	19679555, 23621211, 24485798, 26450928, 35287344, 36726335
Neoplasm Metastasis	Inhibit	23800357, 37342072
Neoplasm Metastasis	Stimulate	26879016, 33793070
Neoplasms	Associate	15987459, 16820096, 19679555, 19820388, 20103682, 21910090, 23621211, 25374251, 26191122, 26221040, 26491675, 27058413, 27543333, 27623212, 30453281 View all (12 more)
Neoplasms	Inhibit	23313578, 24815435, 26823747, 28790385, 30474779, 30992345, 36769280, 39459468
Neoplasms	Stimulate	29085834, 34173871
Neoplasms Cystic Mucinous and Serous	Stimulate	29085834
Neoplastic Cells Circulating	Associate	23800357
Neoplastic Syndromes Hereditary	Associate	20668687
Nephrosis congenital	Associate	32471989
Nerve Compression Syndromes	Associate	29444796
Nerve Degeneration	Associate	35312356
Nervous System Diseases	Associate	25398053
Neurilemmoma	Associate	36726335
Neurodegenerative Diseases	Associate	12457340
Neurologic Manifestations	Associate	22214631
Neuromyelitis Optica	Inhibit	23991165
Nevus Sebaceous of Jadassohn	Associate	35853659
Non Muscle Invasive Bladder Neoplasms	Associate	26251520
Nonsyndromic Deafness	Associate	29346494
Obstetric Labor Premature	Stimulate	31411323
Oculodentodigital Dysplasia	Associate	12457340, 15644317, 16816024, 19725242, 19808103, 22214631, 23951358, 25933380, 25964267, 27146935, 27226478, 28177159, 29380799, 31347275, 31514306 View all (4 more)
Optic Atrophy	Associate	19808103
Ossification of Posterior Longitudinal Ligament	Associate	21442291, 35391932
Osteoarthritis	Inhibit	23416160
Osteoarthritis	Associate	25903580, 30518918, 33671114, 35931686, 39390589
Osteolysis	Associate	23313578
Ovarian Neoplasms	Associate	11943708, 25374251, 26823747
Palmoplantar Keratoderma with Deafness	Associate	26763442
Pancreatic Neoplasms	Associate	15870276, 23363606, 24742583, 33839271
Paraplegia	Associate	12457340, 22214631
Parkinson Disease	Inhibit	40133513
Peri Implantitis	Associate	24270393
Peripheral Nervous System Diseases	Associate	22214631
Peritonitis	Associate	24040271
Personality Disorders	Associate	24742583
Pituitary Neoplasms	Associate	35456480
Polycystic Ovary Syndrome	Associate	28004769, 32190671
Prostatic Neoplasms	Associate	12205082, 17200141, 21910090, 26491675, 26881528, 27623212, 32953881
Psoriasis	Inhibit	30171832
Pyruvate Carboxylase Deficiency Disease	Associate	28052545
Rectal Neoplasms	Associate	25973052, 30809467
Renal Insufficiency Chronic	Associate	32471989
Reperfusion Injury	Associate	38500328
Respiratory Distress Syndrome	Associate	40118005
Retinal Dysplasia	Associate	25206281
Right ventricle hypoplasia	Associate	16010294
Sarcoma Ewing	Inhibit	23313578
Schwartz Lelek syndrome	Associate	23951358, 29444796
Seminoma	Associate	16820096
Sensation Disorders	Associate	22214631
Skin Abnormalities	Associate	36768546
Skin Diseases	Associate	25398053, 26763442
Sleep Wake Disorders	Associate	40133513
Spastic Paraplegia Hereditary	Associate	19056803
Squamous Cell Carcinoma of Head and Neck	Associate	23524428, 26748803, 26758208, 35371339, 35717615, 39459468, 39941000
ST Elevation Myocardial Infarction	Associate	35942675
Stomach Neoplasms	Associate	24040271, 25206281, 32888389, 33485292, 34590921
Subarachnoid Hemorrhage	Associate	38174684
Syndactyly	Associate	23951358, 25976645
Syndactyly type 3	Associate	23951358
Tachycardia Ventricular	Associate	14639017, 26549284
Tachycardia Ventricular	Inhibit	18811803
Tetralogy of Fallot	Associate	16010294, 24751918, 28874875, 35011735
Tooth Resorption	Inhibit	23313578
Urethral Neoplasms	Associate	26251520
Urinary Bladder Diseases	Associate	39500676
Urinary Bladder Neoplasms	Associate	26251520, 31567382
Urinary Bladder Neurogenic	Inhibit	39500676
Uterine Cervical Diseases	Inhibit	16091133
Uterine Cervical Neoplasms	Associate	31012516, 33299882
Ventricular Dysfunction	Associate	14639017
Ventricular Fibrillation	Inhibit	18811803
Ventricular Fibrillation	Associate	24427266, 35942675
Ventricular Remodeling	Associate	22405962

GJA1 (gap junction protein alpha 1)