(Q18556069)

isolated oxidative phosphorylation complex disorder

28 July 2018

0 references

0 references

mitochondrial disease

1 reference

15 May 2019

1 reference

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

28 July 2018

0 references

0 references

1 reference

13 August 2019

1 reference

13 August 2019

2 references

13 August 2019

1 reference

13 August 2019

1 reference

13 August 2019

1 reference

13 August 2019

2 references

13 August 2019

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000198804/Orphanet_254905

inferred from an Open Targets association score over 0.7

PET100

2 references

A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000229833/MONDO_0009068

inferred from an Open Targets association score over 0.7

COA8

1 reference

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

SURF1

2 references

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000148290/MONDO_0009068

inferred from an Open Targets association score over 0.7

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000148290/Orphanet_254905

inferred from an Open Targets association score over 0.7

on focus list of Wikimedia project

WikiProject Medicine

0 references

NCI Thesaurus ID

C98910

1 reference

15 May 2019

http://purl.obolibrary.org/obo/DOID_3762

1 reference

15 May 2019

http://identifiers.org/doid/DOID:3762

1 reference

Identifiers.org

http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233

http://www.orpha.net/ORDO/Orphanet_254905

0 references

Identifiers

MeSH descriptor ID

D030401

mapping relation type

exact match

subject named as

Cytochrome-c Oxidase Deficiency

1 reference

Genetics Home Reference Conditions ID

28 July 2018

0 references

0 references

0 references

1 reference

15 May 2019

0 references

cytochrome-c-oxidase-deficiency

0 references

ICD-10-CM

E88.8

1 reference

28 July 2018

0 references

1 reference

15 May 2019

mapping relation type

exact match

1 reference