DisGeNET - a database of gene-disease associations

Source: INFERRED

Disease: Ventricular Septal Defects ×

Gene: GJA1 ×

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:	2697
Gene Symbol:	GJA1

GJA1

gap junction protein alpha 1

0.393

0.885

0.16

CUI:	C0018818
Disease:	Ventricular Septal Defects

Ventricular Septal Defects

group

0.120

None

1.000

0

2013

2018