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GENE - TERM ANNOTATION REPORT

RGD ID: 70936
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Col18a1
Name: collagen type XVIII alpha 1 chain
Acc ID: DOID:10584
Term: retinitis pigmentosa
Definition: A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Retinitis_pigmentosa "DO" "DO", http://ghr.nlm.nih.gov/condition/retinitis-pigmentosa "DO" "DO", http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4043609/ "DO" "DO", https://www.genome.gov/Genetic-Disorders/Retinitis-Pigmentosa "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)
Col18a1 ISOCOL18A1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosaPMID:12415512 PMID:19160445 PMID:19390655 PMID:20799329 PMID:21862674 PMID:23667181 PMID:25456301 PMID:25741868 PMID:28041643 PMID:28492532 PMID:29977801 PMID:34828430
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