DisGeNET - a database of gene-disease associations

Source: GENOMICS_ENGLAND

Disease: hearing impairment ×

Gene: GJB2 ×

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

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	2706
Gene Symbol:	GJB2

GJB2

CUI:	C1384666
Disease:	hearing impairment

hearing impairment

0.500

Biomarker

GENOMICS_ENGLAND

Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.

2019