NKX2-5, NK2 homeobox 5, 1482

N. diseases: 165; N. variants: 55
Disease: Tetralogy of Fallot ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893904
rs104893904
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
CUI: C0039685
Disease:
Tetralogy of Fallot 		0.700 GeneticVariation UNIPROT NKX2.5 mutations in patients with congenital heart disease. 14607454 2003
dbSNP: rs104893904
rs104893904
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
CUI: C0039685
Disease:
Tetralogy of Fallot 		0.700 GeneticVariation UNIPROT NKX2.5 mutations in patients with tetralogy of fallot. 11714651 2001
dbSNP: rs104893904
rs104893904
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
CUI: C0039685
Disease:
Tetralogy of Fallot 		0.700 GeneticVariation UNIPROT Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. 10587520 1999