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GENE - TERM ANNOTATION REPORT

RGD ID: 732416
Species: Homo sapiens
RGD Object: Gene
Symbol: RPE65
Name: retinoid isomerohydrolase RPE65
Acc ID: HP:0000512
Term: Abnormal electroretinogram
Definition: Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography.
Definition Source(s): https://orcid.org/0000-0002-0736-9199
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)
RPE65 IAGP 9585650RGDDNA:missense mutation:cds:p.D477G  
RPE65 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Abnormal electroretinogram

PMID:16199547 PMID:18632300 PMID:25741868 PMID:28492532 PMID:32367544 PMID:9326941 PMID:9501220 PMID:9843205
RPE65 IAGP 8699517HPO ORPHA:65
RPE65 IAGP 8699517HPO ORPHA:791
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