Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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