Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Connective Tissue Diseases
CUI: C0009782
Disease: Connective Tissue Diseases
0.030 GeneticVariation BEFREE Leukocyte telomere length (LTL), <i>MUC5B</i> rs35705950 and <i>TOLLIP</i> rs5743890 have been associated with idiopathic pulmonary fibrosis (IPF).In this observational cohort study, we assessed the associations between these genomic markers and outcomes of survival and rate of disease progression in patients with interstitial pneumonia with autoimmune features (IPAF, n=250) and connective tissue disease-associated interstitial lung disease (CTD-ILD, n=248). 30635297 2019
Connective Tissue Diseases
CUI: C0009782
Disease: Connective Tissue Diseases
0.030 GeneticVariation BEFREE Sporadic IPF (spIPF, n = 115), FIP (n = 55), idiopathic non-specific interstitial pneumonia (iNSIP, n = 43), connective tissue disease associated interstitial pneumonia (CTD_IP, n = 35) and a control cohort (n = 249) were genotyped for rs35705950. 26699835 2016
Connective Tissue Diseases
CUI: C0009782
Disease: Connective Tissue Diseases
0.030 GeneticVariation BEFREE A meta-analysis was conducted to determine associations between the MUC5B rs35705950 T/G polymorphism and either IPF or connective tissue disease-associated interstitial lung disease (CTD-ILD). 25926289 2015