Disease: Neonatal respiratory failure ×
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 		0.050 GeneticVariation disease BEFREE Recessive mutations in the ATP-binding cassette transporter A3 (ABCA3) cause lethal neonatal respiratory failure and childhood interstitial lung disease.Most ABCA3 mutations are private. 24871971 2014
CUI: C0521648
Disease: Neonatal respiratory failure
Neonatal respiratory failure 		0.050 Biomarker disease BEFREE Surfactant protein B and ABCA3 deficiencies typically cause neonatal respiratory failure, which is often lethal within a few weeks or months. 24047351 2013
CUI: C0521648
Disease: Neonatal respiratory failure
Neonatal respiratory failure 		0.050 Biomarker disease BEFREE ABCA3 was sequenced from genomic DNA prepared from blood samples obtained from the proband, parents, and other children with NRF. 22337229 2012
CUI: C0521648
Disease: Neonatal respiratory failure
Neonatal respiratory failure 		0.050 GeneticVariation disease BEFREE The first of 2 female siblings who died from neonatal respiratory failure was examined for mutations with sequence analysis of all ABCA3 exons and known regulatory elements within the 5' untranslated region. 20304423 2010
CUI: C0521648
Disease: Neonatal respiratory failure
Neonatal respiratory failure 		0.050 Biomarker disease BEFREE ABCA3 deficiency: neonatal respiratory failure and interstitial lung disease. 17142158 2006