Disease: Lung Diseases, Interstitial ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 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 Biomarker group BEFREE Furthermore, a polymorphism in the promoter of MUC5B is strongly associated with risk of developing pulmonary fibrosis, supporting a novel function for MUC5B to influence interstitial lung disease. 29170036 2018
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 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 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 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 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 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 The MUC5B promoter polymorphism was found to be associated with interstitial lung disease in the general population. 23692170 2013