DisGeNET - a database of gene-disease associations

Source: UNIPROT

Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder) ×

Gene: NKX2-5 ×

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:	1482
Gene Symbol:	NKX2-5

NKX2-5

CUI:	C1857586
Disease:	CONOTRUNCAL HEART MALFORMATIONS (disorder)

CONOTRUNCAL HEART MALFORMATIONS (disorder)

0.600

GeneticVariation

UNIPROT

The effect of p.Arg25Cys alteration in NKX2-5 on conotruncal heart anomalies: mutation or polymorphism?

17891434

2008

Entrez Id:	1482
Gene Symbol:	NKX2-5

NKX2-5

CUI:	C1857586
Disease:	CONOTRUNCAL HEART MALFORMATIONS (disorder)

CONOTRUNCAL HEART MALFORMATIONS (disorder)

0.600

GeneticVariation

UNIPROT

NKX2.5 mutations in patients with congenital heart disease.

14607454

2003