Disease: Surfactant Metabolism Dysfunction, Pulmonary, 3 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs149989682
rs149989682
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
CUI: C1970456
Disease:
Surfactant Metabolism Dysfunction, Pulmonary, 3 		A 0.700 CausalMutation CLINVAR ABCA3 missense mutations causing surfactant dysfunction disorders have distinct cellular phenotypes. 29505158 2018
dbSNP: rs149989682
rs149989682
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
CUI: C1970456
Disease:
Surfactant Metabolism Dysfunction, Pulmonary, 3 		A 0.700 CausalMutation CLINVAR Functional Characterization of ATP-Binding Cassette Transporter A3 Mutations from Infants with Respiratory Distress Syndrome. 27374344 2016
dbSNP: rs149989682
rs149989682
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
CUI: C1970456
Disease:
Surfactant Metabolism Dysfunction, Pulmonary, 3 		A 0.700 GeneticVariation CLINVAR Genotype-phenotype correlations for infants and children with ABCA3 deficiency. 24871971 2014
dbSNP: rs149989682
rs149989682
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
CUI: C1970456
Disease:
Surfactant Metabolism Dysfunction, Pulmonary, 3 		A 0.700 CausalMutation CLINVAR Genotype-phenotype correlations for infants and children with ABCA3 deficiency. 24871971 2014
dbSNP: rs149989682
rs149989682
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
CUI: C1970456
Disease:
Surfactant Metabolism Dysfunction, Pulmonary, 3 		A 0.700 CausalMutation CLINVAR Heterozygosity for E292V in ABCA3, lung function and COPD in 64,000 individuals. 22866751 2012
dbSNP: rs149989682
rs149989682
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
CUI: C1970456
Disease:
Surfactant Metabolism Dysfunction, Pulmonary, 3 		A 0.700 CausalMutation CLINVAR Respiratory syncytial virus potentiates ABCA3 mutation-induced loss of lung epithelial cell differentiation. 22434821 2012
dbSNP: rs149989682
rs149989682
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
CUI: C1970456
Disease:
Surfactant Metabolism Dysfunction, Pulmonary, 3 		A 0.700 CausalMutation CLINVAR A child with severe pneumomediastinum and ABCA3 gene mutation: a puzzling connection. 22304854 2012
dbSNP: rs149989682
rs149989682
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
CUI: C1970456
Disease:
Surfactant Metabolism Dysfunction, Pulmonary, 3 		A 0.700 GeneticVariation CLINVAR A child with severe pneumomediastinum and ABCA3 gene mutation: a puzzling connection. 22304854 2012
dbSNP: rs149989682
rs149989682
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
CUI: C1970456
Disease:
Surfactant Metabolism Dysfunction, Pulmonary, 3 		A 0.700 CausalMutation CLINVAR Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome. 23166334 2012
dbSNP: rs149989682
rs149989682
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
CUI: C1970456
Disease:
Surfactant Metabolism Dysfunction, Pulmonary, 3 		A 0.700 CausalMutation CLINVAR Population and disease-based prevalence of the common mutations associated with surfactant deficiency. 18317237 2008
dbSNP: rs149989682
rs149989682
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
CUI: C1970456
Disease:
Surfactant Metabolism Dysfunction, Pulmonary, 3 		A 0.700 CausalMutation CLINVAR Aberrant catalytic cycle and impaired lipid transport into intracellular vesicles in ABCA3 mutants associated with nonfatal pediatric interstitial lung disease. 18676873 2008
dbSNP: rs149989682
rs149989682
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
CUI: C1970456
Disease:
Surfactant Metabolism Dysfunction, Pulmonary, 3 		A 0.700 GeneticVariation CLINVAR Population and disease-based prevalence of the common mutations associated with surfactant deficiency. 18317237 2008
dbSNP: rs149989682
rs149989682
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
CUI: C1970456
Disease:
Surfactant Metabolism Dysfunction, Pulmonary, 3 		A 0.700 CausalMutation CLINVAR ABCA3 mutations associated with pediatric interstitial lung disease. 15976379 2005
dbSNP: rs149989682
rs149989682
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
CUI: C1970456
Disease:
Surfactant Metabolism Dysfunction, Pulmonary, 3 		A 0.700 GeneticVariation CLINVAR ABCA3 mutations associated with pediatric interstitial lung disease. 15976379 2005