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GENE - TERM ANNOTATION REPORT

RGD ID: 18607602
Species: Chlorocebus sabaeus
RGD Object: Gene
Symbol: IMPG2
Name: interphotoreceptor matrix proteoglycan 2
Acc ID: DOID:9006690
Term: Vitelliform Macular Dystrophy 5
Definition: A disease characterized by late-onset moderate visual impairment, preservation of retinal pigment epithelium (RPE) reflectivity, deposits above the RPE between the ellipsoid and outer segment interdigitation lines on spectral-domain optical coherence tomography (SD-OCT), and normal or borderline results on electrooculopathy (EOG). (OMIM)
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)
IMPG2 ISOIMPG2 (Homo sapiens)7240710OMIM  
IMPG2 ISOIMPG2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Vitelliform macular dystrophy 5PMID:20673862 PMID:24876279 PMID:25085631 PMID:25741868 PMID:25741913 PMID:25741915 PMID:25999674 PMID:26355662 PMID:28492532 PMID:28644393 PMID:30054919 PMID:31264916
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