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GENE - TERM ANNOTATION REPORT

RGD ID: 1585674
Species: Rattus norvegicus
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 hyperammonemia that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS22 gene on chromosome 3q23. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/17873122 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/21189481 "DO" "DO"
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.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Mrps22 ISOMRPS22 (Homo sapiens)7240710OMIM  
Mrps22 ISOMRPS22 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Mrps22 ISOMRPS22 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 5 | ClinVar Annotator: match by term: Hypotonia with lactic acidemia and hyperammonemiaPMID:17576681 PMID:17873122 PMID:18539099 PMID:21189481 PMID:25663021 PMID:25741868 PMID:28492532 PMID:28752220 PMID:29096039 PMID:31683770 PMID:36349561 PMID:9536098
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