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GENE - TERM ANNOTATION REPORT

RGD ID: 1310555
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Prpf3
Name: pre-mRNA processing factor 3
Acc ID: DOID:0110356
Term: retinitis pigmentosa 18
Definition: A retinitis pigmentosa that has_material_basis_in mutation in the PRPF3 gene on chromosome 1q21. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/11773002 "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)
Prpf3 ISOPRPF3 (Homo sapiens)7240710OMIM  
Prpf3 ISOPRPF3 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Prpf3 ISOPRPF3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa 18PMID:11773002 PMID:15085354 PMID:16799052 PMID:17517693 PMID:17932117 PMID:18412284 PMID:20309403 PMID:20811066 PMID:21378395 PMID:25741868 PMID:28492532 PMID:28559085 PMID:33576794
Prpf3 ISSPrpf3 (Mus musculus)13592920MouseDOOMIM:601414 
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