DisGeNET - a database of gene-disease associations

Source: GENOMICS_ENGLAND

Disease: Cytochrome-c Oxidase Deficiency ×

Gene: PET100 ×

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

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	100131801
Gene Symbol:	PET100

PET100

PET100 cytochrome c oxidase chaperone

0.650

0.577

3.6E-04

CUI:	C0268237
Disease:	Cytochrome-c Oxidase Deficiency

Cytochrome-c Oxidase Deficiency

disease

0.620

None

1.000

0

2013

2015