DisGeNET - a database of gene-disease associations

Source: UNIPROT

Disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1 ×

Gene: ATP6 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	4508
Gene Symbol:	ATP6

ATP6

CUI:	C3275684
Disease:	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1

MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1

0.400

GeneticVariation

UNIPROT

Episodic ataxia and hemiplegia caused by the 8993T->C mitochondrial DNA mutation.

18055910

2007

Entrez Id:	4508
Gene Symbol:	ATP6

ATP6

CUI:	C3275684
Disease:	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1

MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1

0.400

GeneticVariation

UNIPROT

Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T-->C mutation.

16049925

2005