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GENE - TERM ANNOTATION REPORT

RGD ID: 2375
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Col2a1
Name: collagen type II alpha 1 chain
Acc ID: DOID:0050817
Term: Stargardt disease
Definition: An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Stargardt_disease "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)
Col2a1 ISOCOL2A1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Stargardt diseasePMID:16752401 PMID:20513134 PMID:28492532
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