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GENE - TERM ANNOTATION REPORT

RGD ID: 727845
Species: Rattus norvegicus
RGD Object: Gene
Symbol: F8
Name: coagulation factor VIII
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)
F8 ISOF8 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Leber's amaurosisPMID:22117735 PMID:23913812 PMID:25741868 PMID:29296726 PMID:32165824 PMID:33706050 PMID:35770352
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