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GENE - TERM ANNOTATION REPORT

RGD ID: 733871
Species: Mus musculus
RGD Object: Gene
Symbol: Gucy2e
Name: guanylate cyclase 2e
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)
Gucy2esusceptibilityISOGUCY2D (Homo sapiens)1599624RGDDNA:mutation:exon 
Gucy2e ISOGUCY2D (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:16272259
Gucy2e ISOGUCY2D (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosaPMID:10676808 PMID:10951519 PMID:11115851 PMID:11328726 PMID:11565546 PMID:12552567 PMID:16199547 PMID:24875811 PMID:25741868 PMID:26298565 PMID:28041643 PMID:28492532 PMID:30718709 PMID:33546218 PMID:34906470 PMID:36909829
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