DisGeNET - a database of gene-disease associations

Source: ORPHANET

Disease: Hidrotic Ectodermal Dysplasia ×

Gene: GJB6 ×

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:	10804
Gene Symbol:	GJB6

GJB6

gap junction protein beta 6

0.528

0.808

1.7E-07

CUI:	C0162361
Disease:	Hidrotic Ectodermal Dysplasia

Hidrotic Ectodermal Dysplasia

disease

1.000

definitive

1.000

0

1998

2019