NKX2-1, NK2 homeobox 1, 7080

N. diseases: 319; N. variants: 20
Disease: Respiratory Failure ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		0.150 GeneticVariation disease BEFREE Respiratory insufficiency in a newborn with congenital hypothyroidism due to a new mutation of TTF-1/NKX2.1 gene. 23997037 2014
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		0.150 Biomarker disease BEFREE We report a novel TTF-1 molecular defect causing recurrent respiratory failure episodes in an infant. 21867529 2011
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		0.150 Biomarker disease BEFREE NKX2-1 gene analysis should be considered when investigating irreversible respiratory insufficiency of the newborn. 20584796 2011
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		0.150 GeneticVariation disease BEFREE This is the first reported case of a heterozygous TITF1/NKX2.1 mutation leading to neonatal death from respiratory failure. 18957494 2009
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		0.150 GeneticVariation disease BEFREE Deletion of NKX2.1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failure. 10931427 2000
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		0.150 Biomarker disease HPO