Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0476273
Disease: Respiratory distress
Respiratory distress
0.180 GeneticVariation phenotype BEFREE Mutations in ABCA3 display a common genetic cause for diseases caused by surfactant deficiency like respiratory distress in neonates and interstitial lung disease in children and adults, for which currently no causal therapy exists. 31210424 2019
CUI: C0476273
Disease: Respiratory distress
Respiratory distress
0.180 GeneticVariation phenotype BEFREE Mutations in the human ABCA3 gene were associated with lethal respiratory distress. 25406294 2014
CUI: C0476273
Disease: Respiratory distress
Respiratory distress
0.180 GeneticVariation phenotype BEFREE Novel ABCA3 mutations as a cause of respiratory distress in a term newborn. 24269975 2014
CUI: C0476273
Disease: Respiratory distress
Respiratory distress
0.180 GeneticVariation phenotype BEFREE ABCA3 mutational defects cause respiratory distress in newborns and interstitial lung disease (ILD) in children. 22434821 2012
CUI: C0476273
Disease: Respiratory distress
Respiratory distress
0.180 Biomarker phenotype BEFREE The majority of mice in which Abca3 was deleted in alveolar type II cells died shortly after birth from respiratory distress related to surfactant deficiency. 20190032 2010
CUI: C0476273
Disease: Respiratory distress
Respiratory distress
0.180 GeneticVariation phenotype BEFREE Mutations in the genes encoding the surfactant proteins B and C (SP-B and SP-C) and the phospholipid transporter, ABCA3, are associated with respiratory distress and interstitial lung disease in the pediatric population. 19220077 2009
CUI: C0476273
Disease: Respiratory distress
Respiratory distress
0.180 GeneticVariation phenotype BEFREE Heterozygous ABCA3 mutation associated with non-fatal evolution of respiratory distress. 17618459 2008
CUI: C0476273
Disease: Respiratory distress
Respiratory distress
0.180 Biomarker phenotype BEFREE Haplotype analysis of ABCA3: association with respiratory distress in very premature infants. 18246475 2008
CUI: C0476273
Disease: Respiratory distress
Respiratory distress
0.180 Biomarker phenotype HPO
CUI: C0476273
Disease: Respiratory distress
Respiratory distress
0.180 GeneticVariation phenotype CLINVAR