Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1970456
Disease: Surfactant Metabolism Dysfunction, Pulmonary, 3
Surfactant Metabolism Dysfunction, Pulmonary, 3 		0.700 CausalMutation disease CLINVAR ABCA3 missense mutations causing surfactant dysfunction disorders have distinct cellular phenotypes. 29505158 2018
CUI: C1970456
Disease: Surfactant Metabolism Dysfunction, Pulmonary, 3
Surfactant Metabolism Dysfunction, Pulmonary, 3 		0.700 CausalMutation disease CLINVAR Functional Characterization of ATP-Binding Cassette Transporter A3 Mutations from Infants with Respiratory Distress Syndrome. 27374344 2016
CUI: C1970456
Disease: Surfactant Metabolism Dysfunction, Pulmonary, 3
Surfactant Metabolism Dysfunction, Pulmonary, 3 		0.700 GeneticVariation disease CLINVAR Genotype-phenotype correlations for infants and children with ABCA3 deficiency. 24871971 2014
CUI: C1970456
Disease: Surfactant Metabolism Dysfunction, Pulmonary, 3
Surfactant Metabolism Dysfunction, Pulmonary, 3 		0.700 CausalMutation disease CLINVAR Genotype-phenotype correlations for infants and children with ABCA3 deficiency. 24871971 2014
CUI: C1970456
Disease: Surfactant Metabolism Dysfunction, Pulmonary, 3
Surfactant Metabolism Dysfunction, Pulmonary, 3 		0.700 Biomarker disease GENOMICS_ENGLAND Sequencing of idiopathic pulmonary fibrosis-related genes reveals independent single gene associations. 25553246 2014
CUI: C1970456
Disease: Surfactant Metabolism Dysfunction, Pulmonary, 3
Surfactant Metabolism Dysfunction, Pulmonary, 3 		0.700 GeneticVariation disease CLINVAR A child with severe pneumomediastinum and ABCA3 gene mutation: a puzzling connection. 22304854 2012
CUI: C1970456
Disease: Surfactant Metabolism Dysfunction, Pulmonary, 3
Surfactant Metabolism Dysfunction, Pulmonary, 3 		0.700 CausalMutation disease CLINVAR Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome. 23166334 2012
CUI: C1970456
Disease: Surfactant Metabolism Dysfunction, Pulmonary, 3
Surfactant Metabolism Dysfunction, Pulmonary, 3 		0.700 CausalMutation disease CLINVAR A child with severe pneumomediastinum and ABCA3 gene mutation: a puzzling connection. 22304854 2012
CUI: C1970456
Disease: Surfactant Metabolism Dysfunction, Pulmonary, 3
Surfactant Metabolism Dysfunction, Pulmonary, 3 		0.700 CausalMutation disease CLINVAR Respiratory syncytial virus potentiates ABCA3 mutation-induced loss of lung epithelial cell differentiation. 22434821 2012
CUI: C1970456
Disease: Surfactant Metabolism Dysfunction, Pulmonary, 3
Surfactant Metabolism Dysfunction, Pulmonary, 3 		0.700 CausalMutation disease CLINVAR Heterozygosity for E292V in ABCA3, lung function and COPD in 64,000 individuals. 22866751 2012
CUI: C1970456
Disease: Surfactant Metabolism Dysfunction, Pulmonary, 3
Surfactant Metabolism Dysfunction, Pulmonary, 3 		0.700 GermlineCausalMutation disease ORPHANET Surfactant dysfunction. 22018035 2011
CUI: C1970456
Disease: Surfactant Metabolism Dysfunction, Pulmonary, 3
Surfactant Metabolism Dysfunction, Pulmonary, 3 		0.700 CausalMutation disease CLINVAR Aberrant catalytic cycle and impaired lipid transport into intracellular vesicles in ABCA3 mutants associated with nonfatal pediatric interstitial lung disease. 18676873 2008
CUI: C1970456
Disease: Surfactant Metabolism Dysfunction, Pulmonary, 3
Surfactant Metabolism Dysfunction, Pulmonary, 3 		0.700 GeneticVariation disease CLINVAR Population and disease-based prevalence of the common mutations associated with surfactant deficiency. 18317237 2008
CUI: C1970456
Disease: Surfactant Metabolism Dysfunction, Pulmonary, 3
Surfactant Metabolism Dysfunction, Pulmonary, 3 		0.700 CausalMutation disease CLINVAR Population and disease-based prevalence of the common mutations associated with surfactant deficiency. 18317237 2008
CUI: C1970456
Disease: Surfactant Metabolism Dysfunction, Pulmonary, 3
Surfactant Metabolism Dysfunction, Pulmonary, 3 		0.700 Biomarker disease GENOMICS_ENGLAND ABCA3 deficiency presenting as persistent pulmonary hypertension of the newborn. 17719949 2007
CUI: C1970456
Disease: Surfactant Metabolism Dysfunction, Pulmonary, 3
Surfactant Metabolism Dysfunction, Pulmonary, 3 		0.700 GeneticVariation disease CLINVAR ABCA3 mutations associated with pediatric interstitial lung disease. 15976379 2005
CUI: C1970456
Disease: Surfactant Metabolism Dysfunction, Pulmonary, 3
Surfactant Metabolism Dysfunction, Pulmonary, 3 		0.700 CausalMutation disease CLINVAR ABCA3 mutations associated with pediatric interstitial lung disease. 15976379 2005
CUI: C1970456
Disease: Surfactant Metabolism Dysfunction, Pulmonary, 3
Surfactant Metabolism Dysfunction, Pulmonary, 3 		0.700 GeneticVariation disease UNIPROT ABCA3 gene mutations in newborns with fatal surfactant deficiency. 15044640 2004
CUI: C1970456
Disease: Surfactant Metabolism Dysfunction, Pulmonary, 3
Surfactant Metabolism Dysfunction, Pulmonary, 3 		0.700 Biomarker disease CTD_human
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis 		0.420 GeneticVariation disease BEFREE This is the first report showing that mutations in the ABCA3 gene lead to pulmonary fibrosis and emphysema, including combined pulmonary fibrosis and emphysema, in childhood. 26780485 2016
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis 		0.420 Biomarker disease CTD_human This is the first report showing that mutations in the ABCA3 gene lead to pulmonary fibrosis and emphysema, including combined pulmonary fibrosis and emphysema, in childhood. 26780485 2016
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis 		0.420 GeneticVariation disease BEFREE We have detected a large kindred with a novel ABCA3 mutation likely causing interstitial lung fibrosis affecting either young and adult family members. 24730976 2014
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis 		0.420 Biomarker disease HPO
CUI: C0035220
Disease: Respiratory Distress Syndrome, Newborn
Respiratory Distress Syndrome, Newborn 		0.400 GeneticVariation disease BEFREE Mutations in the ABCA3 gene are an important genetic cause for respiratory distress syndrome in neonates and interstitial lung disease in children and adults, for which there is currently no cure. 29325094 2018
CUI: C0035220
Disease: Respiratory Distress Syndrome, Newborn
Respiratory Distress Syndrome, Newborn 		0.400 Biomarker disease BEFREE Deficiency in ATP binding cassette A3 (ABCA3) causes neonatal respiratory distress, hypoxemic respiratory failure, and interstitial lung disease. 29566461 2018