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 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 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 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 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 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 ABCA3 mutations associated with pediatric interstitial lung disease. 15976379 2005
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 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 Clinical, radiological and pathological features of ABCA3 mutations in children. 18024538 2008
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 Cerebropulmonary dysgenetic syndrome. 18603241 2008
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 Heterozygosity for ABCA3 mutations modifies the severity of lung disease associated with a surfactant protein C gene (SFTPC) mutation. 17597647 2007
Entrez Id: 6440
Gene Symbol: SFTPC
SFTPC
0.320 GeneticVariation disease BEFREE In conclusion, mutations in the gene encoding surfactant protein C are not common in sporadic cases of idiopathic pulmonary fibrosis and nonspecific interstitial pneumonia, suggesting that the mutated gene does not play an important role in the pathogenesis of these forms of idiopathic interstitial pneumonia. 17005585 2007
Entrez Id: 6440
Gene Symbol: SFTPC
SFTPC
0.320 GeneticVariation disease BEFREE Using a candidate gene approach, we found a heterozygous exon 5 + 128 T-->A transversion of SFTPC in a large familial pulmonary fibrosis kindred, including adults with usual interstitial pneumonitis and children with cellular nonspecific interstitial pneumonitis. 11991887 2002
Entrez Id: 653509
Gene Symbol: SFTPA1
SFTPA1
0.310 GeneticVariation disease BEFREE Germline SFTPA1 mutation in familial idiopathic interstitial pneumonia and lung cancer. 26792177 2016
Entrez Id: 7015
Gene Symbol: TERT
TERT
0.310 GeneticVariation disease BEFREE Heterozygous mutations in four telomere-related genes have been linked to pulmonary fibrosis, but little is known about similarities or differences of affected individuals.115 patients with mutations in telomerase reverse transcriptase (TERT) (n=75), telomerase RNA component (TERC) (n=7), regulator of telomere elongation helicase 1 (RTEL1) (n=14) and poly(A)-specific ribonuclease (PARN) (n=19) were identified and clinical data were analysed.Approximately one-half (46%) had a multidisciplinary diagnosis of idiopathic pulmonary fibrosis (IPF); others had unclassifiable lung fibrosis (20%), chronic hypersensitivity pneumonitis (12%), pleuroparenchymal fibroelastosis (10%), interstitial pneumonia with autoimmune features (7%), an idiopathic interstitial pneumonia (4%) and connective tissue disease-related interstitial fibrosis (3%). 27540018 2016
Entrez Id: 3663
Gene Symbol: IRF5
IRF5
0.020 GeneticVariation disease BEFREE In a multivariate analysis model including the diffuse cutaneous subtype of SSc and positivity for anti-topoisomerase I antibodies, the IRF5 rs2004640 TT genotype remained associated with fibrosing alveolitis (P=0.029, OR 1.92, 95% CI 1.07-3.44). 19116937 2009
Entrez Id: 5054
Gene Symbol: SERPINE1
SERPINE1
0.010 GeneticVariation disease BEFREE We found that the distribution of PAI-1 genotypes in the idiopathic interstitial pneumonia population was similar to that of a large control population. 12765340 2003
Entrez Id: 2335
Gene Symbol: FN1
FN1
0.010 GeneticVariation disease BEFREE Fibronectin gene polymorphisms associated with fibrosing alveolitis in systemic sclerosis. 9870923 1999