TMEM43, transmembrane protein 43, 79188

N. diseases: 78; N. variants: 5
Disease: Cardiomyopathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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