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GENE - TERM ANNOTATION REPORT

RGD ID: 12418345
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: CEP250
Name: centrosomal protein 250
Acc ID: DOID:8501
Term: fundus dystrophy
Definition: A group of disorders involving predominantly the posterior portion of the ocular fundus, due to degeneration in the sensory layer of the RETINA; RETINAL PIGMENT EPITHELIUM; BRUCH MEMBRANE; CHOROID; or a combination of these tissues.
Definition Source(s): MESH:D058499
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)
CEP250 ISOCEP250 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinal dystrophyPMID:24780881 PMID:25741868 PMID:28005958 PMID:28492532 PMID:29718797
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