DisGeNET - a database of gene-disease associations

DEAFNESS, AUTOSOMAL RECESSIVE (disorder), C1846647

Gene: GJB3 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	2707
Gene Symbol:	GJB3

GJB3

0.400

Biomarker

disease

GENOMICS_ENGLAND

Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment.

1998

Entrez Id:	2707
Gene Symbol:	GJB3

GJB3

0.400

Biomarker

disease

GENOMICS_ENGLAND

Entrez Id:	2707
Gene Symbol:	GJB3

GJB3

0.400

CausalMutation

disease

CLINVAR