TMEM70, transmembrane protein 70, 54968

N. diseases: 83; N. variants: 4
Disease: Cardiomyopathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.320 GeneticVariation group BEFREE Our observation provides novel insights into the temporal appearance of 3-MGA-uria in TMEM70 and TAZ mutations (Barth syndrome) and focus the importance of multidisciplinary management and careful evaluation of family history and red flag signs for phenocopies in infantile onset cardiomyopathies. 31729175 2020
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.320 GeneticVariation group BEFREE A novel homozygous TMEM70 mutation results in congenital cataract and neonatal mitochondrial encephalo-cardiomyopathy. 23235116 2013
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.320 Biomarker group CTD_human TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy. 18953340 2008