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GENE - TERM ANNOTATION REPORT

RGD ID: 12019724
Species: Pan paniscus
RGD Object: Gene
Symbol: LYRM4
Name: LYR motif containing 4
Acc ID: DOID:0111476
Term: combined oxidative phosphorylation deficiency 19
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the LYRM4 gene on chromosome 6p25.1. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/23814038 "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)
LYRM4 ISOLYRM4 (Homo sapiens)7240710OMIM  
LYRM4 ISOLYRM4 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 19PMID:23814038 PMID:25741868 PMID:28492532
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