DisGeNET - a database of gene-disease associations

Source: ORPHANET

Disease: Partial atrioventricular canal ×

Gene: NR2F2 ×

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:	7026
Gene Symbol:	NR2F2

NR2F2

CUI:	C0344735
Disease:	Partial atrioventricular canal

Partial atrioventricular canal

0.300

SusceptibilityMutation

ORPHANET

Rare variants in NR2F2 cause congenital heart defects in humans.

2014