TMEM70, transmembrane protein 70, 54968

N. diseases: 83; N. variants: 4
Disease: Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3279699
Disease: Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency
Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C3279699
Disease: Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency
Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency 		0.700 CausalMutation disease CLINVAR ATP synthase deficiency due to TMEM70 mutation leads to ultrastructural mitochondrial degeneration and is amenable to treatment. 26550569 2015
CUI: C3279699
Disease: Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency
Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency 		0.700 Biomarker disease GENOMICS_ENGLAND Persistent pulmonary arterial hypertension in the newborn (PPHN): a frequent manifestation of TMEM70 defective patients. 24485043 2014
CUI: C3279699
Disease: Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency
Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency 		0.700 CausalMutation disease CLINVAR Persistent pulmonary arterial hypertension in the newborn (PPHN): a frequent manifestation of TMEM70 defective patients. 24485043 2014
CUI: C3279699
Disease: Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency
Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency 		0.700 GeneticVariation disease UNIPROT TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis. 22986587 2012
CUI: C3279699
Disease: Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency
Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency 		0.700 CausalMutation disease CLINVAR Compensatory upregulation of respiratory chain complexes III and IV in isolated deficiency of ATP synthase due to TMEM70 mutation. 22433607 2012
CUI: C3279699
Disease: Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency
Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency 		0.700 Biomarker disease GENOMICS_ENGLAND TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome. 21147908 2011
CUI: C3279699
Disease: Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency
Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency 		0.700 GermlineCausalMutation disease ORPHANET TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome. 21147908 2011
CUI: C3279699
Disease: Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency
Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency 		0.700 CausalMutation disease CLINVAR Screening for nuclear genetic defects in the ATP synthase-associated genes TMEM70, ATP12 and ATP5E in patients with 3-methylglutaconic aciduria. 21815885 2011
CUI: C3279699
Disease: Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency
Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency 		0.700 Biomarker disease GENOMICS_ENGLAND TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome. 21147908 2011
CUI: C3279699
Disease: Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency
Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency 		0.700 CausalMutation disease CLINVAR Expression and processing of the TMEM70 protein. 20937241 2011
CUI: C3279699
Disease: Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency
Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency 		0.700 CausalMutation disease CLINVAR TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome. 21147908 2011
CUI: C3279699
Disease: Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency
Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency 		0.700 GeneticVariation disease UNIPROT TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy. 18953340 2008
CUI: C3279699
Disease: Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency
Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency 		0.700 CausalMutation disease CLINVAR TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy. 18953340 2008
CUI: C3279699
Disease: Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency
Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency 		0.700 Biomarker disease CTD_human
CUI: C3279699
Disease: Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency
Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency 		0.700 Biomarker disease GENOMICS_ENGLAND