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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	2706
Gene name Gene Name - the full gene name approved by the HGNC.	Gap junction protein beta 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	GJB2
Synonyms (NCBI Gene) Gene synonyms aliases	BAPS, CX26, DFNA3, DFNA3A, DFNB1, DFNB1A, HID, KID, NSRD1, PPK
Chromosome Chromosome number	13
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	13q12.11
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of the gap junction protein family. The gap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacting adherent cells. These structures were shown to consist

Show/Hide all(141)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1801002	C>A,T	Uncertain-significance, pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs28929485	G>A,C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs28931593	C>T	Pathogenic	Missense variant, coding sequence variant
rs28931594	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs28931595	C>A,G,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs34988750	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, coding sequence variant
rs35887622	A>C,G	Benign, conflicting-interpretations-of-pathogenicity, pathogenic-likely-pathogenic, uncertain-significance, likely-pathogenic, likely-benign, pathogenic	Missense variant, coding sequence variant
rs72474224	C>A,T	Conflicting-interpretations-of-pathogenicity, pathogenic-likely-pathogenic, likely-pathogenic, likely-benign, pathogenic	Missense variant, coding sequence variant
rs72561723	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs76434661	C>T	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs80338939	C>-,CC	Conflicting-interpretations-of-pathogenicity, pathogenic-likely-pathogenic, not-provided, pathogenic	Frameshift variant, coding sequence variant
rs80338940	C>T	Pathogenic	Upstream transcript variant, splice donor variant, genic upstream transcript variant
rs80338941	C>A,G	Uncertain-significance, likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs80338942	A>-	Likely-benign, pathogenic	Frameshift variant, coding sequence variant
rs80338943	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs80338944	C>T	Pathogenic	Stop gained, coding sequence variant
rs80338945	A>G	Pathogenic	Missense variant, coding sequence variant
rs80338946	A>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs80338947	CTC>-	Pathogenic	Inframe deletion, coding sequence variant
rs80338948	G>A	Pathogenic	Missense variant, coding sequence variant
rs80338949	T>C,G	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs80338950	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs104894395	C>T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs104894396	C>T	Pathogenic	Stop gained, coding sequence variant
rs104894397	A>G	Pathogenic	Missense variant, coding sequence variant
rs104894398	C>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs104894401	C>T	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs104894402	G>A,C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs104894403	C>A,G,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs104894404	C>G,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs104894406	C>A	Pathogenic	Missense variant, coding sequence variant
rs104894407	C>G,T	Likely-pathogenic, pathogenic	Stop gained, missense variant, coding sequence variant
rs104894408	C>A,G	Pathogenic, likely-pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs104894409	C>A,G,T	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs104894410	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs104894412	G>T	Pathogenic	Missense variant, coding sequence variant
rs104894413	C>G,T	Pathogenic-likely-pathogenic, pathogenic	Stop gained, missense variant, coding sequence variant
rs111033190	C>A,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs111033203	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs111033204	AT>-	Pathogenic	Frameshift variant, coding sequence variant
rs111033217	T>G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs111033222	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs111033225	C>A,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs111033253	CTTGATGAACTTCC>-	Pathogenic	Frameshift variant, coding sequence variant
rs111033293	T>A,C	Likely-pathogenic, pathogenic	Missense variant, initiator codon variant
rs111033294	T>C	Pathogenic	Missense variant, coding sequence variant
rs111033295	T>A,G	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs111033296	G>C,T	Likely-pathogenic	Missense variant, coding sequence variant
rs111033297	G>A	Pathogenic	Stop gained, coding sequence variant
rs111033299	C>T	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs111033327	G>A	Benign-likely-benign, likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	3 prime UTR variant
rs111033335	TCCAGACAC>GAATGTCATGAACACTG	Pathogenic-likely-pathogenic, pathogenic	Stop gained, inframe indel, coding sequence variant
rs111033360	C>T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs111033361	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs111033401	C>T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs111033420	G>A,T	Likely-pathogenic, likely-benign	Stop gained, synonymous variant, coding sequence variant
rs111033451	G>A	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs121912968	T>C	Pathogenic	Missense variant, coding sequence variant
rs141774369	A>G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs141962118	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs143343083	G>A	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs150529554	C>A,T	Likely-benign, uncertain-significance, pathogenic	Stop gained, missense variant, coding sequence variant
rs199883710	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs200104362	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs201004645	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs201895089	T>C,G	Pathogenic-likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance, pathogenic	Splice acceptor variant
rs371024165	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs371086981	A>C,G	Pathogenic, uncertain-significance, likely-pathogenic	Initiator codon variant, missense variant
rs375759781	G>A,C	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs376898963	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs397516871	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs397516873	ATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCC>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs397516874	G>A	Pathogenic	Stop gained, coding sequence variant
rs397516875	C>A,T	Pathogenic, uncertain-significance, likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs397516877	G>T	Pathogenic	Coding sequence variant, missense variant
rs397516878	A>G	Likely-benign, uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs529500747	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs532203068	T>A,C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs561870637	T>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs568612627	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs587783644	A>G	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs587783645	C>A,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs587783646	CA>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs587783647	TCTA>-	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs727503066	G>A,C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs727504302	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs730880338	->A	Pathogenic	Frameshift variant, coding sequence variant
rs747847191	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs750188782	ACACGTTCTTGCAGCC>-	Pathogenic	Frameshift variant, coding sequence variant
rs756484720	TT>-	Pathogenic, pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs763572195	G>A,C	Likely-pathogenic	Stop gained, coding sequence variant, synonymous variant
rs767178508	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs769486081	C>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs770116143	CT>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs771748289	G>A	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs772264564	A>T	Pathogenic	Stop gained, coding sequence variant
rs773528125	->CGTT	Pathogenic, pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs774518779	C>T	Pathogenic	Coding sequence variant, missense variant
rs775828835	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs779018464	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs781534323	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs781767722	T>C	Pathogenic	Coding sequence variant, missense variant
rs786204491	->T	Pathogenic	Coding sequence variant, stop gained
rs786204597	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs786204690	G>T	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs786204734	C>A,T	Pathogenic, likely-pathogenic	Upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant
rs797045596	CCCTTGATGAACTTCC>-	Pathogenic	Coding sequence variant, frameshift variant
rs876657693	GTGTTGGGACA>-	Pathogenic	Coding sequence variant, frameshift variant
rs878853241	A>G	Pathogenic	Coding sequence variant, missense variant
rs879253741	C>A	Pathogenic	Coding sequence variant, missense variant
rs886037624	CCAATGCTGGTG>T	Pathogenic	Coding sequence variant, frameshift variant
rs886037625	->ACGTG	Pathogenic	Coding sequence variant, frameshift variant
rs886037849	A>G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs998045226	G>A	Pathogenic	Missense variant, coding sequence variant
rs1057517491	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517508	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517519	A>G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs1057517521	TG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1064797088	C>T	Pathogenic	Coding sequence variant, missense variant
rs1064797089	G>T	Pathogenic	Coding sequence variant, missense variant
rs1064797090	G>A,C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs1131691709	T>C	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Coding sequence variant, missense variant
rs1273330603	A>G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1291519904	G>A,C	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1302739538	C>G,T	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs1422767764	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1555341783	TTTT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555341794	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555341926	->ACTC	Likely-pathogenic	Stop gained, inframe insertion, coding sequence variant
rs1555341931	CC>T	Pathogenic	Coding sequence variant, frameshift variant
rs1555341949	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555341954	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555341960	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555341993	AC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555342003	AGA>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1555342007	AG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555342014	C>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs1566528185	->AAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTC	Pathogenic	Stop gained, coding sequence variant
rs1566528711	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1566528901	CCT>-	Pathogenic	Coding sequence variant, inframe deletion
rs1593351503	A>G	Pathogenic	Coding sequence variant, missense variant

Show/Hide all(77)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016358	hsa-miR-193b-3p	Microarray	20304954
MIRT017821	hsa-miR-335-5p	Microarray	18185580
MIRT496250	hsa-miR-4524b-3p	PAR-CLIP	22291592
MIRT496249	hsa-miR-1245b-5p	PAR-CLIP	22291592
MIRT496248	hsa-miR-3142	PAR-CLIP	22291592
MIRT496247	hsa-miR-5704	PAR-CLIP	22291592
MIRT496246	hsa-miR-1295a	PAR-CLIP	22291592
MIRT735549	hsa-miR-892a	Luciferase reporter assay, Western blotting, Immunohistochemistry (IHC), qRT-PCR	33664589
MIRT496250	hsa-miR-4524b-3p	PAR-CLIP	22291592
MIRT496249	hsa-miR-1245b-5p	PAR-CLIP	22291592
MIRT496248	hsa-miR-3142	PAR-CLIP	22291592
MIRT496247	hsa-miR-5704	PAR-CLIP	22291592
MIRT496246	hsa-miR-1295a	PAR-CLIP	22291592
MIRT1019749	hsa-miR-1285	CLIP-seq
MIRT1019750	hsa-miR-2277-3p	CLIP-seq
MIRT1019751	hsa-miR-3152-5p	CLIP-seq
MIRT1019752	hsa-miR-3179	CLIP-seq
MIRT1019753	hsa-miR-3187-5p	CLIP-seq
MIRT1019754	hsa-miR-3612	CLIP-seq
MIRT1019755	hsa-miR-3622a-3p	CLIP-seq
MIRT1019756	hsa-miR-3622b-3p	CLIP-seq
MIRT1019757	hsa-miR-3663-3p	CLIP-seq
MIRT1019758	hsa-miR-3929	CLIP-seq
MIRT1019759	hsa-miR-3936	CLIP-seq
MIRT1019760	hsa-miR-3976	CLIP-seq
MIRT1019761	hsa-miR-409-3p	CLIP-seq
MIRT1019762	hsa-miR-4307	CLIP-seq
MIRT1019763	hsa-miR-4419b	CLIP-seq
MIRT1019764	hsa-miR-4423-5p	CLIP-seq
MIRT1019765	hsa-miR-4443	CLIP-seq
MIRT1019766	hsa-miR-4478	CLIP-seq
MIRT1019767	hsa-miR-4649-3p	CLIP-seq
MIRT1019768	hsa-miR-4663	CLIP-seq
MIRT1019769	hsa-miR-4795-3p	CLIP-seq
MIRT1019770	hsa-miR-4796-5p	CLIP-seq
MIRT1019771	hsa-miR-485-5p	CLIP-seq
MIRT1019772	hsa-miR-5096	CLIP-seq
MIRT1019773	hsa-miR-544b	CLIP-seq
MIRT1019774	hsa-miR-612	CLIP-seq
MIRT1019775	hsa-miR-626	CLIP-seq
MIRT1019776	hsa-miR-642a	CLIP-seq
MIRT1019777	hsa-miR-650	CLIP-seq
MIRT1019778	hsa-miR-944	CLIP-seq
MIRT1019752	hsa-miR-3179	CLIP-seq
MIRT1019754	hsa-miR-3612	CLIP-seq
MIRT1019758	hsa-miR-3929	CLIP-seq
MIRT1019759	hsa-miR-3936	CLIP-seq
MIRT1019763	hsa-miR-4419b	CLIP-seq
MIRT1019765	hsa-miR-4443	CLIP-seq
MIRT1019766	hsa-miR-4478	CLIP-seq
MIRT1019771	hsa-miR-485-5p	CLIP-seq
MIRT1019777	hsa-miR-650	CLIP-seq
MIRT1019752	hsa-miR-3179	CLIP-seq
MIRT1019754	hsa-miR-3612	CLIP-seq
MIRT1019758	hsa-miR-3929	CLIP-seq
MIRT1019759	hsa-miR-3936	CLIP-seq
MIRT1019763	hsa-miR-4419b	CLIP-seq
MIRT1019765	hsa-miR-4443	CLIP-seq
MIRT1019766	hsa-miR-4478	CLIP-seq
MIRT1019771	hsa-miR-485-5p	CLIP-seq
MIRT2388478	hsa-miR-555	CLIP-seq
MIRT1019777	hsa-miR-650	CLIP-seq
MIRT1019752	hsa-miR-3179	CLIP-seq
MIRT1019754	hsa-miR-3612	CLIP-seq
MIRT1019758	hsa-miR-3929	CLIP-seq
MIRT1019759	hsa-miR-3936	CLIP-seq
MIRT2538863	hsa-miR-4318	CLIP-seq
MIRT1019763	hsa-miR-4419b	CLIP-seq
MIRT1019765	hsa-miR-4443	CLIP-seq
MIRT1019766	hsa-miR-4478	CLIP-seq
MIRT2538864	hsa-miR-4693-5p	CLIP-seq
MIRT2538865	hsa-miR-4694-3p	CLIP-seq
MIRT1019771	hsa-miR-485-5p	CLIP-seq
MIRT2538866	hsa-miR-522	CLIP-seq
MIRT2538867	hsa-miR-592	CLIP-seq
MIRT2538868	hsa-miR-597	CLIP-seq
MIRT1019777	hsa-miR-650	CLIP-seq

Show/Hide all(31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005243	Function	Gap junction channel activity	IBA
GO:0005243	Function	Gap junction channel activity	IDA	12767933, 21094651
GO:0005243	Function	Gap junction channel activity	IEA
GO:0005509	Function	Calcium ion binding	IDA	26753910
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005793	Component	Endoplasmic reticulum-Golgi intermediate compartment	TAS
GO:0005886	Component	Plasma membrane	IDA	12767933, 21094651
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005921	Component	Gap junction	IDA	12767933
GO:0005921	Component	Gap junction	IEA
GO:0005922	Component	Connexin complex	IBA
GO:0005922	Component	Connexin complex	IDA	21094651
GO:0005922	Component	Connexin complex	IEA
GO:0007154	Process	Cell communication	IEA
GO:0007267	Process	Cell-cell signaling	IBA
GO:0007267	Process	Cell-cell signaling	IEA
GO:0007267	Process	Cell-cell signaling	ISS
GO:0007605	Process	Sensory perception of sound	IEA
GO:0010644	Process	Cell communication by electrical coupling	IEA
GO:0016020	Component	Membrane	IEA
GO:0016264	Process	Gap junction assembly	IDA	12767933
GO:0016264	Process	Gap junction assembly	IEA
GO:0042802	Function	Identical protein binding	IPI	17551008, 19340074
GO:0046872	Function	Metal ion binding	IEA
GO:0055085	Process	Transmembrane transport	IDA	12767933
GO:0070161	Component	Anchoring junction	IEA
GO:1903763	Function	Gap junction channel activity involved in cell communication by electrical coupling	IDA	12767933
GO:1990349	Process	Gap junction-mediated intercellular transport	IBA
GO:1990349	Process	Gap junction-mediated intercellular transport	IDA	12767933, 21094651
GO:1990349	Process	Gap junction-mediated intercellular transport	IEA

MIM	HGNC	e!Ensembl
121011	4284	ENSG00000165474

Protein

UniProt ID

P29033

Protein name

Gap junction beta-2 protein (Connexin-26) (Cx26)

Protein function

Structural component of gap junctions (PubMed:16849369, PubMed:17551008, PubMed:19340074, PubMed:19384972, PubMed:21094651, PubMed:26753910). Gap junctions are dodecameric channels that connect the cytoplasm of adjoining cells. They are formed b

PDB

2ZW3 , 3IZ1 , 3IZ2 , 5ER7 , 5ERA , 5KJ3 , 5KJG , 6UVR , 6UVS , 6UVT , 7QEO , 7QEQ , 7QER , 7QES , 7QET , 7QEU , 7QEV , 7QEW , 7QEY , 8Q9Z , 8QA0 , 8QA1 , 8QA2 , 8QA3

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00029	Connexin	2 → 215	Connexin	Family

Sequence

MDWGTLQTILGGVNKHSTSIGKIWLTVLFIFRIMILVVAAKEVWGDEQADFVCNTLQPGC
KNVCYDHYFPISHIRLWALQLIFVSTPALLVAMHVAYRRHEKKRKFIKGEIKSEFKDIEE
IKTQKVRIEGSLWWTYTSSIFFRVIFEAAFMYVFYVMYDGFSMQRLVKCNAWPCPNTVDC
FVSRPTEKTVFTVFMIAVSGICILLNVTELCYLLIRYCSGKSKKPV

Sequence length

226

Interactions

View interactions

	Reactome
			Transport of connexons to the plasma membrane

Show/Hide Causal Diseases (12)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Deafness	Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant nonsyndromic hearing loss 3A	rs774518779, rs111033297, rs1555341926, rs80338940, rs199883710, rs80338942, rs80338944, rs1801002, rs1378679640, rs80338943, rs104894413, rs750188782, rs104894398, rs587783646, rs111033451 View all (89 more)	N/A
hearing impairment	Hearing impairment	rs80338939, rs587783646, rs111033253, rs111033294, rs80338940, rs80338942, rs104894398, rs143343083, rs1801002, rs104894396, rs80338945, rs72474224, rs76434661, rs104894408, rs80338947 View all (10 more)	N/A
hearing loss	Hearing loss	rs28931594, rs730880338, rs998045226, rs111033253, rs397516874, rs80338940, rs104894398, rs80338942, rs375759781, rs143343083, rs104894396, rs80338941, rs80338945, rs76434661, rs1057517519 View all (13 more)	N/A
Hearing Loss	Hearing loss, autosomal recessive	rs80338944, rs104894402, rs150529554	N/A
knuckle pads, deafness and leukonychia syndrome	Knuckle pads, deafness AND leukonychia syndrome	rs104894412	N/A
Nonsyndromic Deafness	nonsyndromic deafness	rs730880338	N/A
autism spectrum disorder	Autism spectrum disorder	rs111033204	N/A
deafness	Deafness	rs150529554	N/A
DEAFNESS, DIGENIC	Deafness, digenic, GJB2/GJB3, Deafness, digenic, GJB2/GJB6	rs80338943, rs80338939	N/A
Keratitis ichthyosis and deafness syndrome	Autosomal dominant keratitis-ichthyosis-hearing loss syndrome	rs1566528711, rs104894408, rs28929485, rs72561723, rs28931594	N/A
Noonan Syndrome	noonan syndrome 1	rs1593351503	N/A
Palmoplantar Keratoderma with Deafness	palmoplantar keratoderma-deafness syndrome	rs104894404, rs104894410, rs104894402, rs28931593, rs879253741, rs121912968	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Ichthyosis Hystrix	ichthyosis, hystrix-like, with hearing loss	N/A	N/A	GenCC
KID Syndrome	KID syndrome	N/A	N/A	GenCC

Show/Hide Text Mining Associations (115)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
3 Hydroxy 3 Methylglutaryl CoA Lyase Deficiency	Associate	18278224, 24804242, 26399936, 26896187, 33638616
Abnormalities Drug Induced	Associate	30287322
Acrocephalosyndactylia	Associate	15482471
Adenocarcinoma of Lung	Associate	32243356, 34111567, 35196203, 35571564, 35689561, 35783192
Age Related Hearing Impairment 1	Associate	24959830
Anophthalmia with pulmonary hypoplasia	Associate	32228510
Arthritis Psoriatic	Associate	22298274, 9008232, 9665389
Auditory Neuropathy Nonsyndromic Recessive	Associate	33466560
Autoimmune Lymphoproliferative Syndrome	Associate	21298644
Bone Diseases	Associate	19235794, 21298644
Breast Neoplasms	Associate	14681046, 16567471, 23374644, 31292488, 32918981
Carcinogenesis	Associate	11912510, 11918723, 34111567
Carcinoma Endometrioid	Associate	26299454
Carcinoma Hepatocellular	Inhibit	15334670
Carcinoma Hepatocellular	Associate	34830068, 36498978
Carcinoma Non Small Cell Lung	Associate	19550132
Cochlear Diseases	Associate	21298644
Cochleosaccular degeneration of the inner ear and progressive cataracts	Associate	16885744
Colonic Diseases	Associate	23437299
Colorectal Neoplasms	Associate	15770735, 16207476, 20565955, 23386606
Colorectal Neoplasms Hereditary Nonpolyposis	Associate	18278224
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	15140211, 28222800
Deafness	Associate	10204859, 10353784, 10633135, 10903123, 11807148, 11977173, 12083723, 12172394, 14571368, 14985372, 15070423, 15113126, 15245427, 15365987, 15790391 View all (130 more)
Deafness	Stimulate	26061264
Deafness Autosomal Dominant 1	Associate	16648378
Deafness autosomal dominant nonsyndromic sensorineural 3	Associate	10353784, 19274344
Deafness Autosomal Recessive	Associate	10204859, 10903123, 22567152, 9482292
Deafness Autosomal Recessive	Stimulate	18656178
Deafness Autosomal Recessive 1A	Associate	31195736, 37239361
Deafness X Linked 1	Associate	10544226
Deafness X Linked 4	Associate	35126756
Depressive Disorder	Associate	23430402
Diabetic Nephropathies	Associate	29587265
Disease	Associate	15245427, 28428247
Dupuytren Contracture	Associate	24359029
Dystonic Disorders	Associate	12172394
Ectodermal Dysplasia	Associate	15140211, 15245427, 17106596, 25575739
Endometrial Neoplasms	Associate	18519234, 19820388
Epidermal Cyst	Associate	14681040, 24945352
Epilepsies Partial	Associate	20031451
Erythrokeratoderma Reticular	Associate	15245427
Esophageal Neoplasms	Associate	22502669
Genetic Diseases Inborn	Associate	10633135
Glut1 Deficiency Syndrome	Associate	30150638
Head and Neck Neoplasms	Associate	17695503
Headache	Associate	15823911
Hearing Disorders	Associate	10544226, 16849369, 31564438, 38037722
Hearing Loss	Associate	10544226, 10633133, 10633135, 10739769, 10807696, 11134236, 11483639, 12172394, 14571368, 14681040, 14985372, 15070423, 15140211, 15365987, 15482471 View all (165 more)
Hearing Loss	Stimulate	26061264, 37996878
Hearing Loss Bilateral	Associate	30146550, 31871493
Hearing Loss Noise Induced	Associate	25484013, 38212800
Hearing Loss Sensorineural	Associate	10544226, 10633135, 11912510, 15140211, 16840571, 17119768, 18787097, 18941476, 19235794, 20083784, 20146813, 20236118, 20835527, 21122151, 21131880 View all (38 more)
Hearing Loss Sensorineural	Stimulate	35853923
Hemochromatosis	Associate	29270100
Hereditary leiomyomatosis and renal cell cancer	Associate	11379007
Hyperkeratosis Epidermolytic	Associate	10633135, 24346921
Hyperthyroidism	Associate	37876543
Ichthyosis	Associate	27409001, 30287322
Immune System Diseases	Associate	30150638
Infant Death	Associate	30287322
Inflammation	Stimulate	27417573
Inflammatory Bowel Diseases	Associate	27417573
Keratitis	Associate	27409001, 30287322
Keratitis Ichthyosis and Deafness (KID) Syndrome	Associate	25422938
Keratitis Ichthyosis Deafness Syndrome	Associate	11912510, 11918723, 15140211, 15245427, 15482471, 15823911, 16885744, 17106596, 22592158, 23924173, 24785414, 25422938, 25575739, 25625422, 26831144 View all (7 more)
Keratoderma Palmoplantar	Associate	10633135, 11912510, 15140211, 18787097, 20096356, 20890442, 24945352, 26763442, 28872160, 33443819
Knuckle pads leuconychia and sensorineural deafness	Associate	15482471
Labyrinth Diseases	Associate	21298644, 24551843
Language Disorders	Associate	31871493
Laryngomalacia	Associate	37239394
Lymphatic Metastasis	Associate	16567471
Lymphedema	Associate	16941638
Melanoma	Associate	17614106, 37435067
Mitochondrial Diseases	Associate	32400865
Mullerian aplasia	Associate	16650419
Multiple Pterygium Syndrome Autosomal Dominant	Associate	25153233
Nail Diseases	Associate	15245427
Neoplasm Metastasis	Associate	17614106, 23169284
Neoplasms	Associate	14681046, 15770735, 16207476, 18288642, 1849277, 18519234, 22502669, 35861108, 37648762, 8863679
Neoplasms	Inhibit	16613782, 17695503, 20565955
Neoplastic Syndromes Hereditary	Associate	15719042, 17041943, 18941476, 20668687, 23469187, 23504403, 24156272, 25149889, 25628337, 26178431, 26668150, 27247933, 28429364, 28862181, 28925492 View all (8 more)
Nevus	Associate	22592158
Nonsyndromic Deafness	Associate	10739769, 16380907, 16941638, 17505205, 17581693, 17698299, 19274344, 19366456, 19744334, 19904449, 20373850, 20890442, 21122151, 21205314, 21298213 View all (48 more)
Nonsyndromic Deafness	Stimulate	9529365
Nonsyndromic sensorineural hearing loss	Associate	10633133, 11134236, 11912510, 14985372, 15113126, 16371502, 16849369, 17119768, 17428550, 17660464, 17666888, 19366456, 20096356, 21162657, 21287563 View all (40 more)
Nonsyndromic sensorineural hearing loss	Stimulate	21726435, 35805969
Optic Atrophy	Associate	16648378
Osteoporosis	Associate	26668150
Otitis Media	Associate	31876389
Ototoxicity	Associate	28717060
Ovarian Neoplasms	Associate	31794425
Palmoplantar Keratoderma with Deafness	Associate	20890442, 26763442
Pancreatic Neoplasms	Associate	15870276, 23363606
Pancreatic Neoplasms	Stimulate	28177904
Pendred syndrome	Associate	28222800
Polycystic liver disease	Associate	10807696
Psoriasis	Associate	22298274
Respiratory Insufficiency	Associate	30287322
Retinitis Pigmentosa	Associate	22842402
Semicircular Canal Dehiscence	Associate	21298644
Severe Acute Respiratory Syndrome	Associate	11483639, 25636251, 30733538
Skin Abnormalities	Associate	18787097, 26831144
Skin Diseases	Associate	14681040, 15245427, 18787097, 23035047, 25153233, 26763442, 28158657, 28428247
Skin Diseases	Stimulate	16091133
Skin Manifestations	Associate	20031451, 28872160
Sleep Apnea Syndromes	Associate	25422938
Small Cell Lung Carcinoma	Associate	32243356
Tinnitus	Associate	38212800
Uniparental Disomy	Associate	34325055
Urinary Bladder Neoplasms	Associate	18288642, 23579952, 36451132
Usher Syndromes	Associate	22842402, 26429191, 31985074
Vestibular Diseases	Associate	21465647
Vohwinkel syndrome	Associate	15140211, 15482471, 17106596, 20031451, 24346921
Waardenburg Syndrome	Associate	32199281
Warts	Stimulate	16091133

GJB2 (gap junction protein beta 2)