Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Lung Diseases, Interstitial
CUI: C0206062
Disease: Lung Diseases, Interstitial
0.050 GeneticVariation BEFREE The minor allele of the MUC5B rs35705950 genotype is prevalent in several sporadic forms of ILD, including idiopathic pulmonary fibrosis and chronic hypersensitivity pneumonitis. 30660786 2019
Lung Diseases, Interstitial
CUI: C0206062
Disease: Lung Diseases, Interstitial
0.050 GeneticVariation BEFREE Using a discovery population and multiple validation populations, we tested the association of the MUC5B promoter variant rs35705950 in 620 patients with RA-ILD, 614 patients with RA without ILD, and 5448 unaffected controls. 30345907 2018
Lung Diseases, Interstitial
CUI: C0206062
Disease: Lung Diseases, Interstitial
0.050 GeneticVariation BEFREE Whole genome sequencing thus corroborates the association of rs35705950 with MUC5B dysregulation and interstitial lung disease. 25192356 2014
Lung Diseases, Interstitial
CUI: C0206062
Disease: Lung Diseases, Interstitial
0.050 GeneticVariation BEFREE As a result, rs2736100 and rs35705950 were associated significantly and independently with ILD as a single phenotype (Odds ratio [OR], 1.29; 95% confidence interval [CI], 1.04-1.60; P = 2 × 10(-2); and OR, 2.22; 95% CI, 1.69-2.92; P = 7 × 10(-9); respectively). 24434656 2014
Lung Diseases, Interstitial
CUI: C0206062
Disease: Lung Diseases, Interstitial
0.050 GeneticVariation BEFREE A polymorphism on the MUC5B promoter (rs35705950) has been associated with idiopathic pulmonary fibrosis (IPF) but not with systemic sclerosis (SSc) with interstitial lung disease (ILD). 23940607 2013