MMEL1, membrane metalloendopeptidase like 1, 79258

N. diseases: 74; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.500 Biomarker disease CTD_human Variants at IRF5-TNPO3, 17q12-21 and MMEL1 are associated with primary biliary cirrhosis. 20639879 2010
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.500 SusceptibilityMutation disease ORPHANET
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.440 GeneticVariation disease GWASCAT Genetic influences on susceptibility to rheumatoid arthritis in African-Americans. 30423114 2019
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.440 GeneticVariation disease GWASCAT Genetic overlap between autoimmune diseases and non-Hodgkin lymphoma subtypes. 31407831 2019
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.440 GeneticVariation disease BEFREE However, we did not find significant association between neither BANK1 rs3733197 polymorphism nor MMEL1/TNFRSF14 rs3890745 polymorphism and RA. 28925718 2017
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.440 GeneticVariation disease GWASCAT Functional implications of disease-specific variants in loci jointly associated with coeliac disease and rheumatoid arthritis. 26546613 2016
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.440 GeneticVariation disease GWASCAT High-density genotyping of immune loci in Koreans and Europeans identifies eight new rheumatoid arthritis risk loci. 24532676 2015
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.440 GeneticVariation disease GWASCAT Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study. 24449572 2014
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.440 GeneticVariation disease GWASDB Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study. 24449572 2014
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.440 GeneticVariation disease GWASDB High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis. 23143596 2012
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.440 GeneticVariation disease GWASCAT High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis. 23143596 2012
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.440 GeneticVariation disease BEFREE A series of bioinformatic analyses identified TNFRSF14-MMEL1 at the 1p36 locus and IKZF3-ORMDL3-GSDMB at the 17q12 locus as the genes most likely associated with RA. 22365150 2012
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.440 Biomarker disease CTD_human High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis. 23143596 2012
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.440 GeneticVariation disease BEFREE We also demonstrate that in the presence of SE, the minor allele of MMEL1-TNFRSF14 significantly reduces RA risk in a dominant manner, whereas TRAF1-C5 increases the risk. 21614018 2011
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.440 Biomarker disease BEFREE This study identifies MMEL1 and CTLA4 as RA susceptibility genes, provides suggestive evidence of association for a further six loci in the Han Chinese population and confirms lack of PTPN22 association in Asian populations. 21784728 2011
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.440 GeneticVariation disease GWASCAT Common variants at CD40 and other loci confer risk of rheumatoid arthritis. 18794853 2008
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.440 GeneticVariation disease GWASDB Common variants at CD40 and other loci confer risk of rheumatoid arthritis. 18794853 2008
CUI: C0023892
Disease: Biliary cirrhosis
Biliary cirrhosis 		0.400 Biomarker disease CTD_human Variants at IRF5-TNPO3, 17q12-21 and MMEL1 are associated with primary biliary cirrhosis. 20639879 2010
CUI: C0023892
Disease: Biliary cirrhosis
Biliary cirrhosis 		0.400 Biomarker disease HPO
CUI: C0238065
Disease: Secondary Biliary Cholangitis
Secondary Biliary Cholangitis 		0.300 Biomarker disease CTD_human Variants at IRF5-TNPO3, 17q12-21 and MMEL1 are associated with primary biliary cirrhosis. 20639879 2010
CUI: C4551595
Disease: Biliary Cirrhosis, Primary, 1
Biliary Cirrhosis, Primary, 1 		0.300 Biomarker disease CTD_human Variants at IRF5-TNPO3, 17q12-21 and MMEL1 are associated with primary biliary cirrhosis. 20639879 2010
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.120 GeneticVariation disease BEFREE Two multiple sclerosis (MS)-associated genetic regions were modeled; DRB1 (a Class II molecule of the major histocompatibility complex) and MMEL1 (an endopeptidase that degrades both neuropeptides and β-amyloid). 24727690 2014
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.120 GeneticVariation disease GWASCAT Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis. 24076602 2013
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.120 GeneticVariation disease GWASDB Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. 22190364 2011
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.120 GeneticVariation disease GWASDB Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. 21833088 2011