|
Surfactant Metabolism Dysfunction, Pulmonary, 3
|
|
0.700 |
CausalMutation
|
CLINVAR |
ABCA3 missense mutations causing surfactant dysfunction disorders have distinct cellular phenotypes.
|
29505158 |
2018 |
|
Surfactant Metabolism Dysfunction, Pulmonary, 3
|
|
0.700 |
CausalMutation
|
CLINVAR |
Functional Characterization of ATP-Binding Cassette Transporter A3 Mutations from Infants with Respiratory Distress Syndrome.
|
27374344 |
2016 |
|
Hamman-Rich syndrome
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Combined pulmonary fibrosis and emphysema syndrome associated with ABCA3 mutations.
|
24136335 |
2014 |
|
Surfactant Metabolism Dysfunction, Pulmonary, 3
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Genotype-phenotype correlations for infants and children with ABCA3 deficiency.
|
24871971 |
2014 |
|
Surfactant Metabolism Dysfunction, Pulmonary, 3
|
|
0.700 |
CausalMutation
|
CLINVAR |
Genotype-phenotype correlations for infants and children with ABCA3 deficiency.
|
24871971 |
2014 |
|
Hamman-Rich syndrome
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Sequencing of idiopathic pulmonary fibrosis-related genes reveals independent single gene associations.
|
25553246 |
2014 |
|
Hamman-Rich syndrome
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Genotype-phenotype correlations for infants and children with ABCA3 deficiency.
|
24871971 |
2014 |
|
Hamman-Rich syndrome
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Single mutations in ABCA3 increase the risk for neonatal respiratory distress syndrome in late preterm infants (gestational age 34-36 weeks).
|
25073622 |
2014 |
|
Surfactant Metabolism Dysfunction, Pulmonary, 3
|
|
0.700 |
CausalMutation
|
CLINVAR |
Heterozygosity for E292V in ABCA3, lung function and COPD in 64,000 individuals.
|
22866751 |
2012 |
|
Hamman-Rich syndrome
|
|
0.700 |
GeneticVariation
|
CLINVAR |
A child with severe pneumomediastinum and ABCA3 gene mutation: a puzzling connection.
|
22304854 |
2012 |
|
Hamman-Rich syndrome
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome.
|
23166334 |
2012 |
|
Hamman-Rich syndrome
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Polymorphism analysis of the ABCA3 gene: association with neonatal respiratory distress syndrome in preterm infants.
|
22800827 |
2012 |
|
Hamman-Rich syndrome
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Structural and dynamic aspects of Ca2+ and Mg2+ binding of the regulatory domains of the Na+/Ca2+ exchanger.
|
22435821 |
2012 |
|
Surfactant Metabolism Dysfunction, Pulmonary, 3
|
|
0.700 |
CausalMutation
|
CLINVAR |
Respiratory syncytial virus potentiates ABCA3 mutation-induced loss of lung epithelial cell differentiation.
|
22434821 |
2012 |
|
Hamman-Rich syndrome
|
|
0.700 |
GeneticVariation
|
CLINVAR |
ATP-binding cassette member A3 (E292V) gene mutation and pulmonary morbidity in very-low-birth-weight infants.
|
22145626 |
2012 |
|
Surfactant Metabolism Dysfunction, Pulmonary, 3
|
|
0.700 |
CausalMutation
|
CLINVAR |
A child with severe pneumomediastinum and ABCA3 gene mutation: a puzzling connection.
|
22304854 |
2012 |
|
Surfactant Metabolism Dysfunction, Pulmonary, 3
|
|
0.700 |
GeneticVariation
|
CLINVAR |
A child with severe pneumomediastinum and ABCA3 gene mutation: a puzzling connection.
|
22304854 |
2012 |
|
Hamman-Rich syndrome
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Heterozygosity for E292V in ABCA3, lung function and COPD in 64,000 individuals.
|
22866751 |
2012 |
|
Surfactant Metabolism Dysfunction, Pulmonary, 3
|
|
0.700 |
CausalMutation
|
CLINVAR |
Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome.
|
23166334 |
2012 |
|
Hamman-Rich syndrome
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Haplotype analysis of ABCA3: association with respiratory distress in very premature infants.
|
18246475 |
2008 |
|
Surfactant Metabolism Dysfunction, Pulmonary, 3
|
|
0.700 |
CausalMutation
|
CLINVAR |
Population and disease-based prevalence of the common mutations associated with surfactant deficiency.
|
18317237 |
2008 |
|
Hamman-Rich syndrome
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Population and disease-based prevalence of the common mutations associated with surfactant deficiency.
|
18317237 |
2008 |
|
Surfactant Metabolism Dysfunction, Pulmonary, 3
|
|
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 |
|
Hamman-Rich syndrome
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Cerebropulmonary dysgenetic syndrome.
|
18603241 |
2008 |
|
Surfactant Metabolism Dysfunction, Pulmonary, 3
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Population and disease-based prevalence of the common mutations associated with surfactant deficiency.
|
18317237 |
2008 |