TMEM43, transmembrane protein 43, 79188

N. diseases: 78; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1858379
Disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder)
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder) 		0.700 Biomarker disease GENOMICS_ENGLAND Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
CUI: C1858379
Disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder)
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder) 		0.700 Biomarker disease GENOMICS_ENGLAND Fetal arrhythmogenic right ventricular cardiomyopathy with double mutations in TMEM43. 26840987 2016
CUI: C1858379
Disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder)
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder) 		0.700 CausalMutation disease CLINVAR TMEM43 mutation p.S358L alters intercalated disc protein expression and reduces conduction velocity in arrhythmogenic right ventricular cardiomyopathy. 25343256 2014
CUI: C1858379
Disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder)
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder) 		0.700 CausalMutation disease CLINVAR TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations. 23812740 2013
CUI: C1858379
Disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder)
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder) 		0.700 CausalMutation disease CLINVAR Mutation analysis and evaluation of the cardiac localization of TMEM43 in arrhythmogenic right ventricular cardiomyopathy. 21214875 2011
CUI: C1858379
Disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder)
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder) 		0.700 CausalMutation disease CLINVAR Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene. 18313022 2008
CUI: C1858379
Disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder)
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder) 		0.700 GeneticVariation disease UNIPROT Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene. 18313022 2008
CUI: C1858379
Disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder)
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder) 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1858379
Disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder)
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder) 		0.700 Biomarker disease CTD_human
CUI: C3553060
Disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT
EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT 		0.600 Biomarker disease GENOMICS_ENGLAND Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
CUI: C3553060
Disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT
EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT 		0.600 Biomarker disease GENOMICS_ENGLAND Fetal arrhythmogenic right ventricular cardiomyopathy with double mutations in TMEM43. 26840987 2016
CUI: C3553060
Disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT
EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT 		0.600 GeneticVariation disease UNIPROT TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy. 21391237 2011
CUI: C3553060
Disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT
EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT 		0.600 CausalMutation disease CLINVAR
CUI: C3553060
Disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT
EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.500 GermlineCausalMutation disease ORPHANET TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy. 21391237 2011
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.500 Biomarker disease CTD_human
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.420 GeneticVariation group BEFREE The most aggressive arrhythmogenic cardiomyopathy/ARVC subtype is ARVC type 5 (ARVC5), caused by a p.S358L mutation in TMEM43 (transmembrane protein 43). 31567019 2019
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.420 GeneticVariation group BEFREE To determine whether mutations in TMEM43 cause ARVC/D and arrhythmogenic cardiomyopathy in other populations, we fully re-sequenced TMEM43 on 143 ARVC/D probands (families) from the UK and 55 probands (from 55 families) from Newfoundland. 23161701 2013
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.420 Biomarker group GENOMICS_ENGLAND
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.420 GeneticVariation group CLINVAR
CUI: C0085298
Disease: Sudden Cardiac Death
Sudden Cardiac Death 		0.400 Biomarker phenotype CTD_human We discovered rare variants in three genes that are clinically associated with sudden cardiac death-TMEM43, DSP, and MYBPC3. 20435227 2010
CUI: C0085298
Disease: Sudden Cardiac Death
Sudden Cardiac Death 		0.400 Biomarker phenotype HPO
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss 		0.320 GeneticVariation disease BEFREE Additional EDMD-like syndromes are caused by mutations in nesprins and LUMA. 24365856 2014
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss 		0.320 Biomarker disease BEFREE We therefore analyzed TMEM43, which encodes LUMA, a newly identified nuclear membrane protein and also a binding partner of emerin and lamins, to investigate whether LUMA may contribute to the pathomechanism of EDMD-related myopathy. 21391237 2011
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss 		0.320 Biomarker disease CTD_human