TRIM63, tripartite motif containing 63, 84676

N. diseases: 73; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.640 Biomarker disease BEFREE These findings implicate an impaired interaction between titin and MURF1 as a novel mechanism underlying the pathogenesis of HCM. 31628103 2019
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.640 Biomarker disease CLINGEN New cardiac and skeletal protein aggregate myopathy associated with combined MuRF1 and MuRF3 mutations. 25801283 2015
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.640 GeneticVariation disease BEFREE The p.Q247X variant in TRIM63 is not likely to be a highly penetrant variant causing hypertrophic cardiomyopathy. 24436435 2014
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.640 GeneticVariation disease BEFREE These data strongly supported that rare variants in MuRF1 and MuRF2 are associated with higher penetrance and more severe clinical manifestations of HCM. 24865491 2014
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.640 GeneticVariation disease BEFREE TRIM63 mutations, identified in patients with HCM, impart loss-of-function effects on E3 ligase activity and are probably causal mutations in HCM. 22821932 2012
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.640 Biomarker disease CLINGEN To determine the pathogenic role of TRIM63 in human hypertrophic cardiomyopathy (HCM). 22821932 2012
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.640 Biomarker disease CLINGEN Muscle-specific RING finger 1 is a bona fide ubiquitin ligase that degrades cardiac troponin I. 15601779 2004
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.640 Biomarker disease CLINGEN Identification of ubiquitin ligases required for skeletal muscle atrophy. 11679633 2001
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.640 Biomarker disease GENOMICS_ENGLAND
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.640 GeneticVariation disease CLINVAR
CUI: C0026846
Disease: Muscular Atrophy
Muscular Atrophy 		0.510 Biomarker phenotype CTD_human Ouabain exacerbates botulinum neurotoxin-induced muscle paralysis via progression of muscle atrophy in mice. 21139329 2010
CUI: C0026846
Disease: Muscular Atrophy
Muscular Atrophy 		0.510 AlteredExpression phenotype LHGDN In catabolic states where proteolysis is increased, two genes specific to muscle atrophy, MuRf1 and MAFbx, are upregulated. 17977773 2008
CUI: C0026846
Disease: Muscular Atrophy
Muscular Atrophy 		0.510 Biomarker phenotype RGD Identification of ubiquitin ligases required for skeletal muscle atrophy. 11679633 2001
CUI: C0270948
Disease: Neurogenic Muscular Atrophy
Neurogenic Muscular Atrophy 		0.300 Biomarker phenotype CTD_human Ouabain exacerbates botulinum neurotoxin-induced muscle paralysis via progression of muscle atrophy in mice. 21139329 2010
CUI: C0018800
Disease: Cardiomegaly
Cardiomegaly 		0.300 Therapeutic phenotype CTD_human Muscle ring finger 1 mediates cardiac atrophy in vivo. 19168726 2009
CUI: C0033141
Disease: Cardiomyopathies, Primary
Cardiomyopathies, Primary 		0.300 Therapeutic group CTD_human Muscle ring finger 1 mediates cardiac atrophy in vivo. 19168726 2009
CUI: C0036529
Disease: Myocardial Diseases, Secondary
Myocardial Diseases, Secondary 		0.300 Therapeutic group CTD_human Muscle ring finger 1 mediates cardiac atrophy in vivo. 19168726 2009
CUI: C0333641
Disease: Atrophic
Atrophic 		0.300 Biomarker phenotype CTD_human Muscle ring finger 1 mediates cardiac atrophy in vivo. 19168726 2009
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.300 Therapeutic group CTD_human Muscle ring finger 1 mediates cardiac atrophy in vivo. 19168726 2009
CUI: C1383860
Disease: Cardiac Hypertrophy
Cardiac Hypertrophy 		0.300 Therapeutic phenotype CTD_human Muscle ring finger 1 mediates cardiac atrophy in vivo. 19168726 2009
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.200 Biomarker disease RGD Noninvasive imaging of in vivo MuRF1 expression during muscle atrophy. 24710205 2014
CUI: C0429097
Disease: QRS complex feature
QRS complex feature 		0.100 GeneticVariation phenotype GWASCAT 52 Genetic Loci Influencing Myocardial Mass. 27659466 2016
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.040 Biomarker group BEFREE Consequently, we confirmed reduced activity of mTOR signaling components and higher expression of atrophy-related markers typified by FoxO1/atrogin-1/MuRF1 and myostatin-Smad2/3 signaling during the course of diabetes. 30510624 2018
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.040 Biomarker group BEFREE The aim of this study was to evaluate the changes in biomarkers of skeletal muscle proteolysis (atrogin-1, muscle RING finger-1 protein [MuRF-1]) and inflammation (nuclear factor kappa-B) in skeletal muscles of rats under two catabolic conditions, diabetes mellitus (DM) and acute joint inflammation, and the effects of insulin therapy. 29497304 2018
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.040 Biomarker group BEFREE The present study investigated the effect of diabetes and acute muscle contraction upon the TRIM63 and FBXO32 expression as well as the potential involvement of some miRNAs. 28000044 2017