Surfactant Metabolism Dysfunction, Pulmonary, 3
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
ABCA3 missense mutations causing surfactant dysfunction disorders have distinct cellular phenotypes.
|
29505158 |
2018 |
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 |
Surfactant Metabolism Dysfunction, Pulmonary, 3
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Genotype-phenotype correlations for infants and children with ABCA3 deficiency.
|
24871971 |
2014 |
Surfactant Metabolism Dysfunction, Pulmonary, 3
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Genotype-phenotype correlations for infants and children with ABCA3 deficiency.
|
24871971 |
2014 |
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 |
Surfactant Metabolism Dysfunction, Pulmonary, 3
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
A child with severe pneumomediastinum and ABCA3 gene mutation: a puzzling connection.
|
22304854 |
2012 |
Surfactant Metabolism Dysfunction, Pulmonary, 3
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome.
|
23166334 |
2012 |
Surfactant Metabolism Dysfunction, Pulmonary, 3
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
A child with severe pneumomediastinum and ABCA3 gene mutation: a puzzling connection.
|
22304854 |
2012 |
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 |
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 |
Surfactant Metabolism Dysfunction, Pulmonary, 3
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Surfactant dysfunction.
|
22018035 |
2011 |
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 |
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 |
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 |
Surfactant Metabolism Dysfunction, Pulmonary, 3
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
ABCA3 deficiency presenting as persistent pulmonary hypertension of the newborn.
|
17719949 |
2007 |
Surfactant Metabolism Dysfunction, Pulmonary, 3
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
ABCA3 mutations associated with pediatric interstitial lung disease.
|
15976379 |
2005 |
Surfactant Metabolism Dysfunction, Pulmonary, 3
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
ABCA3 mutations associated with pediatric interstitial lung disease.
|
15976379 |
2005 |
Surfactant Metabolism Dysfunction, Pulmonary, 3
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
ABCA3 gene mutations in newborns with fatal surfactant deficiency.
|
15044640 |
2004 |
Surfactant Metabolism Dysfunction, Pulmonary, 3
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
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 |
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 |
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 |
Pulmonary Fibrosis
|
0.420 |
Biomarker
|
disease |
HPO |
|
|
|
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 |
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 |