DisGeNET - a database of gene-disease associations

Source: ORPHANET

Disease: Senter syndrome ×

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:	C0265336
Disease:	Senter syndrome

Senter syndrome

1.000

GermlineCausalMutation

ORPHANET