NKX2-1, NK2 homeobox 1, 7080

N. diseases: 319; N. variants: 20
Disease: Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs863225300
rs863225300
Entrez Id: 7080;253970;100506237
Gene Symbol: NKX2-1;SFTA3;NKX2-1-AS1
NKX2-1;SFTA3;NKX2-1-AS1
CUI: C1970269
Disease:
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress 		T 0.700 CausalMutation CLINVAR A novel NKX2.1 mutation in a family with hypothyroidism and benign hereditary chorea. 18788921 2008