Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | ||||
|
0.180 | GeneticVariation | phenotype | BEFREE | Mutations in the human ABCA3 gene were associated with lethal respiratory distress. | 25406294 | 2014 | ||||
|
0.180 | GeneticVariation | phenotype | BEFREE | Novel ABCA3 mutations as a cause of respiratory distress in a term newborn. | 24269975 | 2014 | ||||
|
0.180 | GeneticVariation | phenotype | BEFREE | ABCA3 mutational defects cause respiratory distress in newborns and interstitial lung disease (ILD) in children. | 22434821 | 2012 | ||||
|
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 | ||||
|
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 | ||||
|
0.180 | GeneticVariation | phenotype | BEFREE | Heterozygous ABCA3 mutation associated with non-fatal evolution of respiratory distress. | 17618459 | 2008 | ||||
|
0.180 | Biomarker | phenotype | BEFREE | Haplotype analysis of ABCA3: association with respiratory distress in very premature infants. | 18246475 | 2008 |