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GENE - TERM ANNOTATION REPORT

RGD ID: 1622305
Species: Mus musculus
RGD Object: Gene
Symbol: Coa6
Name: cytochrome c oxidase assembly factor 6
Acc ID: DOID:0080360
Term: fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4
Definition: A fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the COA6 gene on chromosome 1q42. (DO)
Definition Source(s): https://omim.org/entry/616501?search=616501&highlight=616501
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISORGD:13529127240710OMIM  
 ISORGD:13529128554872ClinVarClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4

PMID:22277967, PMID:24549041, PMID:25959673, PMID:26160915
 ISORGD:13529128554872ClinVarClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4

PMID:24549041
 ISORGD:13529128554872ClinVarClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4

PMID:25339201
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.