DisGeNET - a database of gene-disease associations

Source: ALL

Disease: DEAFNESS, DIGENIC, GJB2/GJB3 (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

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	2706
Gene Symbol:	GJB2

GJB2

CUI:	C2673761
Disease:	DEAFNESS, DIGENIC, GJB2/GJB3 (disorder)

DEAFNESS, DIGENIC, GJB2/GJB3 (disorder)

0.600

Biomarker

MGD

Entrez Id:	2706
Gene Symbol:	GJB2

GJB2

CUI:	C2673761
Disease:	DEAFNESS, DIGENIC, GJB2/GJB3 (disorder)

DEAFNESS, DIGENIC, GJB2/GJB3 (disorder)

0.600

Biomarker

CTD_human

Entrez Id:	2706
Gene Symbol:	GJB2

GJB2

CUI:	C2673761
Disease:	DEAFNESS, DIGENIC, GJB2/GJB3 (disorder)

DEAFNESS, DIGENIC, GJB2/GJB3 (disorder)

0.600

CausalMutation

CLINVAR