Disease: Surfactant Metabolism Dysfunction, Pulmonary, 3 ×
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