NKX2-5, NK2 homeobox 5, 1482

N. diseases: 165; N. variants: 55
Disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852685
rs137852685
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
CUI: C2673630
Disease:
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (disorder) 		0.800 GeneticVariation UNIPROT Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis. 16418214 2006
dbSNP: rs137852685
rs137852685
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
CUI: C2673630
Disease:
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (disorder) 		G 0.800 CausalMutation CLINVAR