| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Hamman-Rich syndrome
|
0.700 | GeneticVariation | CLINVAR | Combined pulmonary fibrosis and emphysema syndrome associated with ABCA3 mutations. | 24136335 | 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 | |||||
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 | |||||
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 | |||||
Hamman-Rich syndrome
|
0.700 | GeneticVariation | CLINVAR | Heterozygosity for E292V in ABCA3, lung function and COPD in 64,000 individuals. | 22866751 | 2012 | |||||
Hamman-Rich syndrome
|
0.700 | GeneticVariation | CLINVAR | Haplotype analysis of ABCA3: association with respiratory distress in very premature infants. | 18246475 | 2008 | |||||
Hamman-Rich syndrome
|
0.700 | GeneticVariation | CLINVAR | Population and disease-based prevalence of the common mutations associated with surfactant deficiency. | 18317237 | 2008 | |||||
Hamman-Rich syndrome
|
0.700 | GeneticVariation | CLINVAR | Cerebropulmonary dysgenetic syndrome. | 18603241 | 2008 | |||||
Hamman-Rich syndrome
|
0.700 | GeneticVariation | 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 | Heterozygosity for ABCA3 mutations modifies the severity of lung disease associated with a surfactant protein C gene (SFTPC) mutation. | 17597647 | 2007 | |||||
Hamman-Rich syndrome
|
0.700 | GeneticVariation | CLINVAR | ABCA3 mutations associated with pediatric interstitial lung disease. | 15976379 | 2005 |