DisGeNET - a database of gene-disease associations

COX2, cytochrome c oxidase subunit II, 4513

N. diseases: 875; N. variants: 79

Disease: Colorectal Carcinoma ×

Variant: rs267606884 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs267606884

Entrez Id:	4508;4509;4512;4513;4514
Gene Symbol:	ATP6;ATP8;COX1;COX2;COX3

ATP6;ATP8;COX1;COX2;COX3

CUI:	C0009402
Disease:

Colorectal Carcinoma

0.800

GeneticVariation

UNIPROT

A mitochondrial DNA mutation linked to colon cancer results in proton leaks in cytochrome c oxidase.

19218458

2009

dbSNP:

rs267606884

Entrez Id:	4508;4509;4512;4513;4514
Gene Symbol:	ATP6;ATP8;COX1;COX2;COX3

ATP6;ATP8;COX1;COX2;COX3

CUI:	C0009402
Disease:

Colorectal Carcinoma

0.800

GeneticVariation

UNIPROT

Mitochondrial DNA mutations are established in human colonic stem cells, and mutated clones expand by crypt fission.

16407113

2006

dbSNP:

rs267606884

Entrez Id:	4508;4509;4512;4513;4514
Gene Symbol:	ATP6;ATP8;COX1;COX2;COX3

ATP6;ATP8;COX1;COX2;COX3

CUI:	C0009402
Disease:

Colorectal Carcinoma

0.800

CausalMutation

CLINVAR