Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7012
Gene Symbol: TERC
TERC
0.310 Biomarker 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: 51750
Gene Symbol: RTEL1
RTEL1
0.310 SusceptibilityMutation disease ORPHANET Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening. 25848748 2015
Entrez Id: 5073
Gene Symbol: PARN
PARN
0.310 SusceptibilityMutation disease ORPHANET Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening. 25848748 2015
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: 7015
Gene Symbol: TERT
TERT
0.310 SusceptibilityMutation disease ORPHANET Adult-onset pulmonary fibrosis caused by mutations in telomerase. 17460043 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: 653509
Gene Symbol: SFTPA1
SFTPA1
0.310 SusceptibilityMutation disease ORPHANET Surfactant protein A and B genetic variants predispose to idiopathic pulmonary fibrosis. 13680361 2003
Entrez Id: 79991
Gene Symbol: STN1
STN1
0.300 SusceptibilityMutation disease ORPHANET Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis. 23583980 2013
Entrez Id: 10144
Gene Symbol: FAM13A
FAM13A
0.300 SusceptibilityMutation disease ORPHANET Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis. 23583980 2013
Entrez Id: 1832
Gene Symbol: DSP
DSP
0.300 SusceptibilityMutation disease ORPHANET Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis. 23583980 2013
Entrez Id: 91039
Gene Symbol: DPP9
DPP9
0.300 SusceptibilityMutation disease ORPHANET Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis. 23583980 2013
Entrez Id: 23250
Gene Symbol: ATP11A
ATP11A
0.300 SusceptibilityMutation disease ORPHANET Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis. 23583980 2013
Entrez Id: 727897
Gene Symbol: MUC5B
MUC5B
0.300 SusceptibilityMutation disease ORPHANET A variant in the promoter of MUC5B and idiopathic pulmonary fibrosis. 21506748 2011
Entrez Id: 727897
Gene Symbol: MUC5B
MUC5B
0.300 SusceptibilityMutation disease ORPHANET A common MUC5B promoter polymorphism and pulmonary fibrosis. 21506741 2011
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: 3569
Gene Symbol: IL6
IL6
0.200 Biomarker disease RGD Increased levels of interleukin-6 are associated with lymphocytosis in bronchoalveolar lavage fluids of idiopathic nonspecific interstitial pneumonia. 10988147 2000
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
0.100 CausalMutation disease CLINVAR
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: 3565
Gene Symbol: IL4
IL4
0.030 AlteredExpression disease BEFREE Augmented pulmonary IL-4 and IL-13 receptor subunit expression in idiopathic interstitial pneumonia. 15113854 2004
Entrez Id: 3565
Gene Symbol: IL4
IL4
0.030 AlteredExpression disease BEFREE Human pulmonary fibroblasts exhibit altered interleukin-4 and interleukin-13 receptor subunit expression in idiopathic interstitial pneumonia. 15161635 2004
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: 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: 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: 3596
Gene Symbol: IL13
IL13
0.020 AlteredExpression disease BEFREE Augmented pulmonary IL-4 and IL-13 receptor subunit expression in idiopathic interstitial pneumonia. 15113854 2004
Entrez Id: 3576
Gene Symbol: CXCL8
CXCL8
0.020 Biomarker disease BEFREE To search for single-nucleotide polymorphisms in the interleukin-8 (IL-8) and IL-8 receptor CXCR-1 and CXCR-2 genes, and to compare their distribution among patients with systemic sclerosis (SSc) with fibrosing alveolitis (FASSc) or without fibrosing alveolitis (NFASSc), or patients with cryptogenic fibrosing alveolitis (CFA), and normal healthy subjects. 10902769 2000