×
Entrez Id:
21
Gene Symbol:
ABCA3
ABCA3
0.400
GeneticVariation
disease
ORPHANET
Sequencing of idiopathic pulmonary fibrosis-related genes reveals independent single gene associations.
25553246
2014
×
Entrez Id:
21
Gene Symbol:
ABCA3
ABCA3
0.400
GeneticVariation
disease
CLINVAR
Sequencing of idiopathic pulmonary fibrosis-related genes reveals independent single gene associations.
25553246
2014
×
Entrez Id:
21
Gene Symbol:
ABCA3
ABCA3
0.400
GeneticVariation
disease
CLINVAR
Combined pulmonary fibrosis and emphysema syndrome associated with ABCA3 mutations.
24136335
2014
×
Entrez Id:
21
Gene Symbol:
ABCA3
ABCA3
0.400
GeneticVariation
disease
CLINVAR
Single mutations in ABCA3 increase the risk for neonatal respiratory distress syndrome in late preterm infants (gestational age 34-36 weeks).
25073622
2014
×
Entrez Id:
21
Gene Symbol:
ABCA3
ABCA3
0.400
GeneticVariation
disease
CLINVAR
Genotype-phenotype correlations for infants and children with ABCA3 deficiency.
24871971
2014
×
Entrez Id:
21
Gene Symbol:
ABCA3
ABCA3
0.400
GeneticVariation
disease
CLINVAR
ATP-binding cassette member A3 (E292V) gene mutation and pulmonary morbidity in very-low-birth-weight infants.
22145626
2012
×
Entrez Id:
21
Gene Symbol:
ABCA3
ABCA3
0.400
GeneticVariation
disease
CLINVAR
Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome.
23166334
2012
×
Entrez Id:
21
Gene Symbol:
ABCA3
ABCA3
0.400
GeneticVariation
disease
CLINVAR
Structural and dynamic aspects of Ca2+ and Mg2+ binding of the regulatory domains of the Na+/Ca2+ exchanger.
22435821
2012
×
Entrez Id:
21
Gene Symbol:
ABCA3
ABCA3
0.400
GeneticVariation
disease
CLINVAR
Polymorphism analysis of the ABCA3 gene: association with neonatal respiratory distress syndrome in preterm infants.
22800827
2012
×
Entrez Id:
21
Gene Symbol:
ABCA3
ABCA3
0.400
GeneticVariation
disease
CLINVAR
Heterozygosity for E292V in ABCA3, lung function and COPD in 64,000 individuals.
22866751
2012
×
Entrez Id:
21
Gene Symbol:
ABCA3
ABCA3
0.400
GeneticVariation
disease
CLINVAR
A child with severe pneumomediastinum and ABCA3 gene mutation: a puzzling connection.
22304854
2012
×
Entrez Id:
21
Gene Symbol:
ABCA3
ABCA3
0.400
GeneticVariation
disease
CLINVAR
Haplotype analysis of ABCA3: association with respiratory distress in very premature infants.
18246475
2008
×
Entrez Id:
21
Gene Symbol:
ABCA3
ABCA3
0.400
GeneticVariation
disease
CLINVAR
Population and disease-based prevalence of the common mutations associated with surfactant deficiency.
18317237
2008
×
Entrez Id:
21
Gene Symbol:
ABCA3
ABCA3
0.400
GeneticVariation
disease
CLINVAR
Aberrant catalytic cycle and impaired lipid transport into intracellular vesicles in ABCA3 mutants associated with nonfatal pediatric interstitial lung disease.
18676873
2008
×
Entrez Id:
21
Gene Symbol:
ABCA3
ABCA3
0.400
GeneticVariation
disease
CLINVAR
Clinical, radiological and pathological features of ABCA3 mutations in children.
18024538
2008
×
Entrez Id:
21
Gene Symbol:
ABCA3
ABCA3
0.400
GeneticVariation
disease
CLINVAR
Cerebropulmonary dysgenetic syndrome.
18603241
2008
×
Entrez Id:
21
Gene Symbol:
ABCA3
ABCA3
0.400
GeneticVariation
disease
CLINVAR
Heterozygosity for ABCA3 mutations modifies the severity of lung disease associated with a surfactant protein C gene (SFTPC) mutation.
17597647
2007
×
Entrez Id:
21
Gene Symbol:
ABCA3
ABCA3
0.400
GeneticVariation
disease
CLINVAR
ABCA3 mutations associated with pediatric interstitial lung disease.
15976379
2005