NKX2-5, NK2 homeobox 5, 1482

N. diseases: 165; N. variants: 55
Disease: HYPOPLASTIC LEFT HEART SYNDROME 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28936670
rs28936670
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
CUI: C3280795
Disease:
HYPOPLASTIC LEFT HEART SYNDROME 2 		A 0.800 CausalMutation CLINVAR
dbSNP: rs28936670
rs28936670
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
CUI: C3280795
Disease:
HYPOPLASTIC LEFT HEART SYNDROME 2 		0.800 GeneticVariation UNIPROT