Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
0.200 GeneticVariation disease BEFREE The MUC5B promoter variant rs5705950, telomerase complex mutations and short telomere lengths are also linked to an increased susceptibility to pulmonary fibrosis in RA and chronic hypersensitivity pneumonitis. 31261211 2019
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
0.200 GeneticVariation disease BEFREE The MUC5B promoter variant rs5705950, telomerase complex mutations and short telomere lengths are also linked to an increased susceptibility to pulmonary fibrosis in RA and chronic hypersensitivity pneumonitis. 31365378 2019
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
0.200 Biomarker disease BEFREE Moreover, patients with the MUC5B polymorphism show more severe coughing as MUC5B encodes for the dominant mucin in the honeycomb cysts of IPF patients. 30269188 2019
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
0.200 Biomarker disease BEFREE Our findings suggest that mucociliary dysfunction might play a causative role in bleomycin-induced pulmonary fibrosis in mice overexpressing Muc5b, and that MUC5B in distal airspaces is a potential therapeutic target in humans with IPF. 30560893 2018
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
0.200 GeneticVariation disease BEFREE The relationship between complement C3 expression and the MUC5B genotype in pulmonary fibrosis. 29565179 2018
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
0.200 GeneticVariation disease BEFREE A single-nucleotide polymorphism (rs35705950) in the mucin 5B (<i>MUC5B</i>) gene promoter is associated with pulmonary fibrosis and interstitial features on chest CT but may also have beneficial effects. 29440587 2018
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
0.200 Biomarker disease BEFREE In FIP, MUC5B minor allele predicts better survival, pointing towards a subgroup of FIP patients with a milder, MUC5B-driven form of pulmonary fibrosis. 26699835 2016
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
0.200 GeneticVariation disease BEFREE We have previously found that 1) a common gain-of-function promoter variant in MUC5B rs35705950 is the strongest risk factor (genetic and otherwise), accounting for 30-35% of the risk of developing IPF, a disease that was previously considered idiopathic; 2) the MUC5B promoter variant can potentially be used to identify individuals with preclinical pulmonary fibrosis and is predictive of radiologic progression of preclinical pulmonary fibrosis; and 3) MUC5B may be involved in the pathogenesis of pulmonary fibrosis with MUC5B message and protein expressed in bronchiolo-alveolar epithelia of IPF and the characteristic IPF honeycomb cysts. 27630174 2016
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
0.200 GeneticVariation disease BEFREE CT Imaging Phenotypes of Pulmonary Fibrosis in the MUC5B Promoter Site Polymorphism. 26836909 2016
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
0.200 Biomarker disease BEFREE Genetic variations have been recognized to be involved in the multi-factorial susceptibility to CWP, and MUC5B is a candidate lung fibrosis susceptibility gene. 24924948 2014
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
0.200 Biomarker disease BEFREE We summarize information on the genetics of pulmonary fibrosis by focusing on the recent genetic findings of MUC5B. 24547893 2014
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
0.200 GeneticVariation disease BEFREE The MUC5B variant was not a risk factor for lung fibrosis in patients with SSc or sarcoidosis and did not predict more rapidly progressive lung disease in any of the groups. 23321605 2013
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
0.200 GeneticVariation disease BEFREE To determine whether the MUC5B promoter polymorphism (rs35705950), previously reported to be associated with the development of pulmonary fibrosis, is associated with survival in IPF. 23695349 2013
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
0.200 AlteredExpression disease BEFREE Our findings suggest that dysregulated MUC5B expression in the lung may be involved in the pathogenesis of pulmonary fibrosis. 21506741 2011
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
0.200 Biomarker disease HPO