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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:14791
Term: Leber congenital amaurosis
Definition: A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Leber%27s_congenital_amaurosis "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)
Rpgrip1 ISORPGRIP1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:11283794 PMID:11528500
Rpgrip1 ISORPGRIP1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosisPMID:11283794 PMID:11528500 PMID:16199547 PMID:16272259 PMID:20065226 PMID:20079931 PMID:21602930 PMID:23105016 PMID:24123792 PMID:24516651 PMID:24997176 PMID:25741868 PMID:26047050 PMID:27422788 PMID:28041643 PMID:28181551 PMID:28456785 PMID:28492532 PMID:28714225 PMID:30072743 PMID:30202406 PMID:30576320 PMID:30718709 PMID:31630094 PMID:31816670 PMID:32165824 PMID:32531858 PMID:32581362 PMID:32860008 PMID:33308271 PMID:33670832 PMID:36909829
Rpgrip1 ISORPGRIP1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosisPMID:11283794 PMID:11528500 PMID:16199547 PMID:16272259 PMID:20065226 PMID:20079931 PMID:21602930 PMID:23105016 PMID:24123792 PMID:24516651 PMID:24997176 PMID:25741868 PMID:26047050 PMID:27422788 PMID:28041643 PMID:28181551 PMID:28456785 PMID:28492532 PMID:28714225 PMID:30072743 PMID:30202406 PMID:30576320 PMID:30718709 PMID:31630094 PMID:31816670 PMID:32165824 PMID:32531858 PMID:32581362 PMID:32860008 PMID:33670832 PMID:36909829
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