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GENE - TERM ANNOTATION REPORT

RGD ID: 12727349
Species: Ictidomys tridecemlineatus
RGD Object: Gene
Symbol: Mrps22
Name: mitochondrial ribosomal protein S22
Acc ID: DOID:0111473
Term: combined oxidative phosphorylation deficiency 5
Definition: A combined oxidative phosphorylation deficiency characterized by severe hypotonia, lactic academia and congenital hyperammonaemia that has_material_basis_in homozygous or compound heterozygous mutation in MRPS22 on chromosome 3q23. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/17873122, https://www.ncbi.nlm.nih.gov/pubmed/21189481
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:13539967240710OMIM  
 ISSRGD:122438119068941ClinVarClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 5

 
 ISSRGD:122438119068941ClinVarClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 5

PMID:17873122, PMID:28492532, PMID:29096039
 ISSRGD:122438119068941ClinVarClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 5

PMID:21189481
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.