NKX2-1, NK2 homeobox 1, 7080

N. diseases: 319; N. variants: 20
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0521648
Disease: Neonatal respiratory failure
Neonatal respiratory failure
0.010 GeneticVariation disease BEFREE Fatal neonatal respiratory failure in an infant with congenital hypothyroidism due to haploinsufficiency of the NKX2-1 gene: alteration of pulmonary surfactant homeostasis. 20584796 2011