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GENE - TERM ANNOTATION REPORT

RGD ID: 1552746
Species: Mus musculus
RGD Object: Gene
Symbol: Gfm1
Name: G elongation factor, mitochondrial 1
Acc ID: DOID:0060286
Term: combined oxidative phosphorylation deficiency
Definition: A mitochondrial metabolism disease that is characterized by growth retardation, microcephaly, hypertonia, encephalopathy, cardiomyopathy and liver dysfunction. (DO)
Definition Source(s): https://rarediseases.info.nih.gov/diseases/12893/combined-oxidative-phosphorylation-deficiency "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)
Gfm1 ISOGFM1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Combined oxidative phosphorylation deficiencyPMID:21119709 PMID:25741868 PMID:28216230 PMID:28492532 PMID:31683770
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