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GENE - TERM ANNOTATION REPORT

RGD ID: 12097865
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: MRPS7
Name: mitochondrial ribosomal protein S7
Acc ID: DOID:0111497
Term: combined oxidative phosphorylation deficiency 34
Definition: A combined oxidative phosphorylation deficiency typically characterized by congenital sensorineural deafness, increased serum lactate, and hepatic and renal dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS7 gene on chromosome 17q25.1. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/25556185 "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)
MRPS7 ISOMRPS7 (Homo sapiens)7240710OMIM  
MRPS7 ISOMRPS7 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 34PMID:25556185 PMID:25741868 PMID:28492532 PMID:9063420
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