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GENE - TERM ANNOTATION REPORT

RGD ID: 11725752
Species: Pan paniscus
RGD Object: Gene
Symbol: NDUFS6
Name: NADH:ubiquinone oxidoreductase subunit S6
Acc ID: DOID:0070016
Term: autosomal dominant dyskeratosis congenita 2
Definition: A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TERT gene on chromosome 5p15.33. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/16247010 "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)
NDUFS6 ISONDUFS6 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2PMID:12629597 PMID:16247010 PMID:17460043 PMID:28492532
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