DisGeNET - a database of gene-disease associations

Cytochrome-c Oxidase Deficiency, C0268237

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs587777004

HNRNPU ; COX20

0.800

GeneticVariation

UNIPROT

The mitochondrial TMEM177 associates with COX20 during COX2 biogenesis.

29154948

2018

dbSNP:

rs104894555

COX10

0.800

GeneticVariation

UNIPROT

A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.

26741492

2016

dbSNP:

rs104894556

COX10

0.800

GeneticVariation

UNIPROT

A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.

26741492

2016

dbSNP:

rs104894557

COX10

0.800

GeneticVariation

UNIPROT

A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.

26741492

2016

dbSNP:

rs104894560

COX10

0.800

GeneticVariation

UNIPROT

A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.

26741492

2016

dbSNP:

rs587777004

HNRNPU ; COX20

0.800

GeneticVariation

UNIPROT

Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation.

24202787

2014

dbSNP:

rs587777004

HNRNPU ; COX20

0.800

GeneticVariation

UNIPROT

A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.

23125284

2013

dbSNP:

rs104894630

SCO1

0.800

GeneticVariation

UNIPROT

Human SCO2 is required for the synthesis of CO II and as a thiol-disulphide oxidoreductase for SCO1.

19336478

2009

dbSNP:

rs121909602

COX6B1

0.800

GeneticVariation

UNIPROT

Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase.

18499082

2008

dbSNP:

rs104894630

SCO1

0.800

GeneticVariation

UNIPROT

Human Sco1 functional studies and pathological implications of the P174L mutant.

17182746

2007

dbSNP:

rs104894630

SCO1

0.800

GeneticVariation

UNIPROT

The human cytochrome c oxidase assembly factors SCO1 and SCO2 have regulatory roles in the maintenance of cellular copper homeostasis.

17189203

2007

dbSNP:

rs104894555

COX10

0.800

GeneticVariation

UNIPROT

Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency.

12928484

2003

dbSNP:

rs104894556

COX10

0.800

GeneticVariation

UNIPROT

Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency.

12928484

2003

dbSNP:

rs104894557

COX10

0.800

GeneticVariation

UNIPROT

Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency.

12928484

2003

dbSNP:

rs104894560

COX10

0.800

GeneticVariation

UNIPROT

Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency.

12928484

2003

dbSNP:

rs104894555

COX10

0.800

GeneticVariation

UNIPROT

A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency.

10767350

2000

dbSNP:

rs104894556

COX10

0.800

GeneticVariation

UNIPROT

A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency.

10767350

2000

dbSNP:

rs104894557

COX10

0.800

GeneticVariation

UNIPROT

A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency.

10767350

2000

dbSNP:

rs104894560

COX10

0.800

GeneticVariation

UNIPROT

A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency.

10767350

2000

dbSNP:

rs104894630

SCO1

0.800

GeneticVariation

UNIPROT

Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy.

11013136

2000

dbSNP:

rs199474827

ATP6 ; ATP8 ; COX1 ; COX2 ; COX3

0.800

GeneticVariation

UNIPROT

A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy.

10486321

1999

dbSNP:

rs104894555

COX10

0.800

CausalMutation

CLINVAR

dbSNP:

rs104894556

COX10

0.800

CausalMutation

CLINVAR

dbSNP:

rs104894557

COX10

0.800

CausalMutation

CLINVAR

dbSNP:

rs104894560

COX10

0.800

CausalMutation

CLINVAR