Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.700 GeneticVariation disease BEFREE A polymorphism in the promoter of the MUC5B gene has been associated with both sporadic and familial forms of idiopathic pulmonary fibrosis; however, the impact of this association remains to be determined. 22781209 2012
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.700 GeneticVariation disease BEFREE In aggregate, our findings indicate that the MUC5B promoter variant is associated with higher C3 expression and suggest that the complement system may contribute to the pathogenesis of IPF. 29565179 2018
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.700 GeneticVariation disease BEFREE A common MUC5B promoter variant rs35705950 is associated with adult Idiopathic Pulmonary Fibrosis (IPF). 25858779 2015
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.700 GeneticVariation disease BEFREE Analysis of protein-altering variants in telomerase genes and their association with MUC5B common variant status in patients with idiopathic pulmonary fibrosis: a candidate gene sequencing study. 29891356 2018
CUI: C0878555
Disease: Diffuse panbronchiolitis
Diffuse panbronchiolitis 		0.320 GeneticVariation disease BEFREE It has been reported previously that variation in the promoter of MUC5B, the gene that encodes one of the two major gel-forming mucins (MUC5B) of the mucus of the respiratory tract, is associated with susceptibility to diffuse panbronchiolitis, and that a genetic difference in promoter activity can be detected in vitro. 20946254 2010
CUI: C4721509
Disease: Usual Interstitial Pneumonia
Usual Interstitial Pneumonia 		0.320 GeneticVariation disease BEFREE We sought to determine the predictive effect of probable UIP on CT scan on histology and the effect of the promoter polymorphism in MUC5B (rs35705950) on histologic and CT scan UIP diagnosis. 25317858 2015
CUI: C4721509
Disease: Usual Interstitial Pneumonia
Usual Interstitial Pneumonia 		0.320 GeneticVariation disease BEFREE We found that the MUC5B promoter variant was associated with RA-ILD and more specifically associated with evidence of usual interstitial pneumonia on imaging. 30345907 2018
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 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 CT Imaging Phenotypes of Pulmonary Fibrosis in the MUC5B Promoter Site Polymorphism. 26836909 2016
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 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 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 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: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		0.200 GeneticVariation group 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
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		0.200 GeneticVariation group BEFREE A stratified analysis showed that this variant in MUC5B associated with the risk for ILD mainly in older male Chinese subjects. 25121989 2014
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		0.200 GeneticVariation group BEFREE We found that the MUC5B promoter variant was associated with RA-ILD and more specifically associated with evidence of usual interstitial pneumonia on imaging. 30345907 2018
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		0.200 GeneticVariation group BEFREE Whole genome sequencing thus corroborates the association of rs35705950 with MUC5B dysregulation and interstitial lung disease. 25192356 2014
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		0.200 GeneticVariation group BEFREE We genotyped the MUC5B promoter in the first 142 patients of the French national prospective cohort of IPF, in 981 French patients with SSc (346 ILD), 598 Italian patients with SSc (207 ILD), 1383 French controls and 494 Italian controls. 23940607 2013
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		0.200 GeneticVariation group GWASDB Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis. 23583980 2013
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		0.200 GeneticVariation group BEFREE We examined whether MUC5B is similarly linked to ILD secondary to SFTPC mutations. 25858779 2015
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		0.200 GeneticVariation group BEFREE Overall, the MUC5B promoter variant does not appear to contribute to ILD risk in myositis patients. 29206633 2017
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		0.200 GeneticVariation group BEFREE Associations between 2 polymorphisms in TERT (rs2736100) and MUC5B (rs35705950) and IPF or non-IPF sporadic ILD were tested using 227 patients with ILD and 689 control subjects. 24434656 2014
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		0.200 GeneticVariation group BEFREE The MUC5B promoter polymorphism was found to be associated with interstitial lung disease in the general population. 23692170 2013