TMEM70, transmembrane protein 70, 54968

N. diseases: 83; N. variants: 4
Disease: Isolated ATP synthase deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs796052056
rs796052056
Entrez Id: 54968
Gene Symbol: TMEM70
TMEM70
CUI: C4757950
Disease:
Isolated ATP synthase deficiency 		CGT 0.700 CausalMutation CLINVAR TMEM70 deficiency: long-term outcome of 48 patients. 25326274 2015
dbSNP: rs796052056
rs796052056
Entrez Id: 54968
Gene Symbol: TMEM70
TMEM70
CUI: C4757950
Disease:
Isolated ATP synthase deficiency 		CGT 0.700 CausalMutation CLINVAR Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization. 20920610 2011
dbSNP: rs796052056
rs796052056
Entrez Id: 54968
Gene Symbol: TMEM70
TMEM70
CUI: C4757950
Disease:
Isolated ATP synthase deficiency 		CGT 0.700 CausalMutation CLINVAR Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation. 20335238 2010
dbSNP: rs796052056
rs796052056
Entrez Id: 54968
Gene Symbol: TMEM70
TMEM70
CUI: C4757950
Disease:
Isolated ATP synthase deficiency 		CGT 0.700 CausalMutation CLINVAR TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy. 18953340 2008