Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

RGD ID: 1306997
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Wdr19
Name: WD repeat domain 19
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)
Wdr19 ISOWDR19 (Homo sapiens)11552600RGDDNA:missense mutation:cds:p.L710S (human) 
Wdr19 ISOWDR19 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosaPMID:25741868 PMID:28492532 PMID:34906470
Go Back to source page   Continue to Ontology report