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GENE - TERM ANNOTATION REPORT

RGD ID: 329844792
Species: Homo sapiens
RGD Object: Gene
Symbol: LOC130056553
Name: ATAC-STARR-seq lymphoblastoid silent region 6135
Acc ID: DOID:0070502
Term: mitochondrial complex IV deficiency nuclear type 17
Definition: A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COA8 gene on chromosome 14q32.33. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/25175347/ "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)
LOC130056553 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17PMID:25175347 PMID:25741868 PMID:29577824
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