Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6275
Gene Symbol: S100A4
S100A4
0.010 Biomarker disease BEFREE FSP1 also identified fibroblasts in lung biopsy specimens from patients with documented usual interstitial pneumonitis. 15618458 2005
Entrez Id: 51062
Gene Symbol: ATL1
ATL1
0.010 Biomarker disease BEFREE FSP1 also identified fibroblasts in lung biopsy specimens from patients with documented usual interstitial pneumonitis. 15618458 2005
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
0.400 GeneticVariation disease CLINVAR ABCA3 mutations associated with pediatric interstitial lung disease. 15976379 2005
Entrez Id: 7392
Gene Symbol: USF2
USF2
0.010 Biomarker disease BEFREE These findings suggest that FIP may be caused by an interaction between a specific environmental exposure and a gene (or genes) that predisposes to the development of several subtypes of idiopathic interstitial pneumonia. 16109978 2005
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: 7012
Gene Symbol: TERC
TERC
0.310 SusceptibilityMutation disease ORPHANET Telomerase mutations in families with idiopathic pulmonary fibrosis. 17392301 2007
Entrez Id: 7015
Gene Symbol: TERT
TERT
0.310 SusceptibilityMutation disease ORPHANET Adult-onset pulmonary fibrosis caused by mutations in telomerase. 17460043 2007
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 Clinical, radiological and pathological features of ABCA3 mutations in children. 18024538 2008
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: 3565
Gene Symbol: IL4
IL4
0.030 Biomarker disease BEFREE We correlated the transcription of TGF-beta(1), connective tissue growth factor (CTGF), IL-4, IL-13 and interferon-gamma (IFN-gamma) with lung function development in progressive fibrosis in idiopathic interstitial pneumonia. 18525195 2008
Entrez Id: 3596
Gene Symbol: IL13
IL13
0.020 Biomarker disease BEFREE We correlated the transcription of TGF-beta(1), connective tissue growth factor (CTGF), IL-4, IL-13 and interferon-gamma (IFN-gamma) with lung function development in progressive fibrosis in idiopathic interstitial pneumonia. 18525195 2008
Entrez Id: 1490
Gene Symbol: CCN2
CCN2
0.010 Biomarker disease BEFREE We correlated the transcription of TGF-beta(1), connective tissue growth factor (CTGF), IL-4, IL-13 and interferon-gamma (IFN-gamma) with lung function development in progressive fibrosis in idiopathic interstitial pneumonia. 18525195 2008
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
0.010 AlteredExpression disease BEFREE We correlated the transcription of TGF-beta(1), connective tissue growth factor (CTGF), IL-4, IL-13 and interferon-gamma (IFN-gamma) with lung function development in progressive fibrosis in idiopathic interstitial pneumonia. 18525195 2008
Entrez Id: 3458
Gene Symbol: IFNG
IFNG
0.010 Biomarker disease BEFREE We correlated the transcription of TGF-beta(1), connective tissue growth factor (CTGF), IL-4, IL-13 and interferon-gamma (IFN-gamma) with lung function development in progressive fibrosis in idiopathic interstitial pneumonia. 18525195 2008
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
0.400 GeneticVariation disease CLINVAR Cerebropulmonary dysgenetic syndrome. 18603241 2008
Entrez Id: 54106
Gene Symbol: TLR9
TLR9
0.010 AlteredExpression disease BEFREE TLR9 is expressed in idiopathic interstitial pneumonia and its activation promotes in vitro myofibroblast differentiation. 18633634 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: 7012
Gene Symbol: TERC
TERC
0.310 SusceptibilityMutation disease ORPHANET Short telomeres are a risk factor for idiopathic pulmonary fibrosis. 18753630 2008
Entrez Id: 729238
Gene Symbol: SFTPA2
SFTPA2
0.300 SusceptibilityMutation disease ORPHANET Genetic defects in surfactant protein A2 are associated with pulmonary fibrosis and lung cancer. 19100526 2009
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: 3663
Gene Symbol: IRF5
IRF5
0.020 Biomarker disease BEFREE STAT4 and IRF5 act with additive effects in terms of susceptibility to both SSc and SSc-related fibrosing alveolitis. 19644887 2009
Entrez Id: 6775
Gene Symbol: STAT4
STAT4
0.010 Biomarker disease BEFREE STAT4 and IRF5 act with additive effects in terms of susceptibility to both SSc and SSc-related fibrosing alveolitis. 19644887 2009
Entrez Id: 22861
Gene Symbol: NLRP1
NLRP1
0.010 GeneticVariation disease BEFREE Logistic regression analysis showed an additive effect of IRF5 rs2004640, STAT4 rs7574865 and NLRP1 rs8182352 risk alleles on SSc-related FA. 21149496 2011