TMEM70, transmembrane protein 70, 54968

N. diseases: 83; N. variants: 4
Disease: Isolated ATP synthase deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4757950
Disease: Isolated ATP synthase deficiency
Isolated ATP synthase deficiency 		0.110 CausalMutation disease CLINVAR TMEM70 deficiency: long-term outcome of 48 patients. 25326274 2015
CUI: C4757950
Disease: Isolated ATP synthase deficiency
Isolated ATP synthase deficiency 		0.110 CausalMutation disease CLINVAR Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization. 20920610 2011
CUI: C4757950
Disease: Isolated ATP synthase deficiency
Isolated ATP synthase deficiency 		0.110 CausalMutation disease CLINVAR Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation. 20335238 2010
CUI: C4757950
Disease: Isolated ATP synthase deficiency
Isolated ATP synthase deficiency 		0.110 GeneticVariation disease BEFREE TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy. 18953340 2008
CUI: C4757950
Disease: Isolated ATP synthase deficiency
Isolated ATP synthase deficiency 		0.110 CausalMutation disease CLINVAR TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy. 18953340 2008