TMEM70, transmembrane protein 70, 54968

N. diseases: 83; N. variants: 4
Disease: Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs183973249
rs183973249
Entrez Id: 54968
Gene Symbol: TMEM70
TMEM70
CUI: C3279699
Disease:
Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency 		G 0.700 CausalMutation CLINVAR ATP synthase deficiency due to TMEM70 mutation leads to ultrastructural mitochondrial degeneration and is amenable to treatment. 26550569 2015
dbSNP: rs183973249
rs183973249
Entrez Id: 54968
Gene Symbol: TMEM70
TMEM70
CUI: C3279699
Disease:
Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency 		G 0.700 CausalMutation CLINVAR Compensatory upregulation of respiratory chain complexes III and IV in isolated deficiency of ATP synthase due to TMEM70 mutation. 22433607 2012
dbSNP: rs183973249
rs183973249
Entrez Id: 54968
Gene Symbol: TMEM70
TMEM70
CUI: C3279699
Disease:
Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency 		G 0.700 CausalMutation CLINVAR Expression and processing of the TMEM70 protein. 20937241 2011
dbSNP: rs183973249
rs183973249
Entrez Id: 54968
Gene Symbol: TMEM70
TMEM70
CUI: C3279699
Disease:
Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency 		G 0.700 CausalMutation CLINVAR Screening for nuclear genetic defects in the ATP synthase-associated genes TMEM70, ATP12 and ATP5E in patients with 3-methylglutaconic aciduria. 21815885 2011
dbSNP: rs183973249
rs183973249
Entrez Id: 54968
Gene Symbol: TMEM70
TMEM70
CUI: C3279699
Disease:
Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency 		G 0.700 CausalMutation CLINVAR TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy. 18953340 2008