DisGeNET - a database of gene-disease associations

Isolated ATP synthase deficiency, C4757950

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs796052056

TMEM70

CGT

0.700

CausalMutation

CLINVAR

TMEM70 deficiency: long-term outcome of 48 patients.

25326274

2015

dbSNP:

rs796052056

TMEM70

CGT

0.700

CausalMutation

CLINVAR

Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization.

20920610

2011

dbSNP:

rs796052056

TMEM70

CGT

0.700

CausalMutation

CLINVAR

Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation.

20335238

2010

dbSNP:

rs796052056

TMEM70

CGT

0.700

CausalMutation

CLINVAR

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy.

18953340

2008