NKX2-1, NK2 homeobox 1, 7080

N. diseases: 319; N. variants: 20
Disease: Respiratory distress ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0476273
Disease: Respiratory distress
Respiratory distress 		0.110 GeneticVariation phenotype BEFREE We identified a mutation [p.(Val75Glyfs*334)] in the amino-terminal domain of the NKX2-1 gene, which was functionally compared with a previously identified mutation [p.(Ala276Argfs*75)] in the carboxy-terminal domain in other patients with BLTS but without signs of respiratory distress. 29294041 2018
CUI: C0476273
Disease: Respiratory distress
Respiratory distress 		0.110 Biomarker phenotype HPO