DisGeNET - a database of gene-disease associations

Source: CLINGEN

Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder) ×

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

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	2706
Gene Symbol:	GJB2

GJB2

gap junction protein beta 2

0.441

0.846

6.6E-16

CUI:	C1846647
Disease:	DEAFNESS, AUTOSOMAL RECESSIVE (disorder)

DEAFNESS, AUTOSOMAL RECESSIVE (disorder)

disease

0.400

definitive

1.000

0

1997

2019