DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: Mitochondrial Encephalomyopathies ×

Gene: SCO2 ×

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:	9997
Gene Symbol:	SCO2

SCO2

CUI:	C0162666
Disease:	Mitochondrial Encephalomyopathies

Mitochondrial Encephalomyopathies

0.300

Biomarker

CTD_human

COX19 mediates the transduction of a mitochondrial redox signal from SCO1 that regulates ATP7A-mediated cellular copper efflux.

23345593

2013

Entrez Id:	9997
Gene Symbol:	SCO2

SCO2

CUI:	C0162666
Disease:	Mitochondrial Encephalomyopathies

Mitochondrial Encephalomyopathies

0.300

Biomarker

CTD_human

Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency.

16326995

2006