DisGeNET - a database of gene-disease associations

COA8, cytochrome c oxidase assembly factor 8, 84334

N. diseases: 61; N. variants: 6

Disease: Leukoencephalopathy ×

Source: ALL

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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

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C0270612
Disease:	Leukoencephalopathy

Leukoencephalopathy

0.110

GeneticVariation

group

BEFREE

Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency.

2014

CUI:	C0270612
Disease:	Leukoencephalopathy

Leukoencephalopathy

0.110

Biomarker

group

HPO