DisGeNET - a database of gene-disease associations

Pseudopelade, C0086873

Gene: GJB2 ×

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:	2706
Gene Symbol:	GJB2

GJB2

0.300

Biomarker

disease

GENOMICS_ENGLAND

Bigenic connexin mutations in a patient with hidrotic ectodermal dysplasia.

2005

Entrez Id:	2706
Gene Symbol:	GJB2

GJB2

0.300

Biomarker

disease

GENOMICS_ENGLAND