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GENE - TERM ANNOTATION REPORT

RGD ID: 620511
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Crx
Name: cone-rod homeobox
Acc ID: DOID:14791
Term: Leber congenital amaurosis
Definition: A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Leber%27s_congenital_amaurosis "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)
Crx ISOCRX (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:9537410 PMID:9931337
Crx ISOCRX (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Retinal blindness, congenitalPMID:25741868 PMID:26355662 PMID:26872967 PMID:28492532 PMID:30718709 PMID:32165824
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