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GENE - TERM ANNOTATION REPORT

RGD ID: 1310807
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Rpgrip1
Name: RPGR interacting protein 1
Acc ID: DOID:8501
Term: fundus dystrophy
Definition: A group of disorders involving predominantly the posterior portion of the ocular fundus, due to degeneration in the sensory layer of the RETINA; RETINAL PIGMENT EPITHELIUM; BRUCH MEMBRANE; CHOROID; or a combination of these tissues.
Definition Source(s): MESH:D058499
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)
Rpgrip1 ISORPGRIP1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:12920076
Rpgrip1 ISORPGRIP1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinal dystrophyPMID:11528500 PMID:15024725 PMID:16199547 PMID:23105016 PMID:25445212 PMID:25741868 PMID:26047050 PMID:27208204 PMID:28492532 PMID:28559085 PMID:28714225 PMID:30072743 PMID:30576320 PMID:31429209
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