DisGeNET - a database of gene-disease associations

Source: MGD

Disease: Charcot-Marie-Tooth Disease ×

Gene: GJB1 ×

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:	2705
Gene Symbol:	GJB1

GJB1

gap junction protein beta 1

0.514

0.731

0.85

CUI:	C0007959
Disease:	Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth Disease

disease

0.400

None

0.992

0

1994

2019