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GENE - TERM ANNOTATION REPORT

RGD ID: 12111795
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: HKDC1
Name: hexokinase domain containing 1
Acc ID: DOID:9003467
Term: Retinitis Pigmentosa 92
Definition: Characterized by relatively mild disease, with onset of night blindness and vision loss in the third to sixth decades of life. Caused by homozygous mutation in the HKDC1 gene on chromosome 10q22.
Definition Source(s): OMIM:619614
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)
HKDC1 ISOHKDC1 (Homo sapiens)7240710OMIM  
HKDC1 ISOHKDC1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa 92PMID:25741868 PMID:27229527 PMID:30085091
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