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GENE - TERM ANNOTATION REPORT

RGD ID: 1309649
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Rlbp1
Name: retinaldehyde binding protein 1
Acc ID: DOID:11105
Term: fundus albipunctatus
Definition: A fundus dystrophy that is characterized by discrete uniform white dots over the entire fundus with greatest density in the midperiphery and no macular involvement. (DO)
Definition Source(s): http://www.omim.org/entry/136880 "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)
Rlbp1 ISORLBP1 (Homo sapiens)7240710OMIM  
Rlbp1 ISORLBP1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Rlbp1 ISORLBP1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Fundus albipunctatus | ClinVar Annotator: match by term: Pigmentary retinal dystrophy | ClinVar Annotator: match by term: Retinitis punctata albescensPMID:10102298 PMID:10102299 PMID:11301032 PMID:11449319 PMID:11453974 PMID:11868161 PMID:12536144 PMID:14718298 PMID:15234312 PMID:15953459 PMID:17576681 PMID:18344446 PMID:19846785 PMID:20238024 PMID:21447491 PMID:22171637 PMID:22183382 PMID:22551409 PMID:23105016 PMID:2392416 PMID:24265693 PMID:25307992 PMID:25326637 PMID:25356976 PMID:25429852 PMID:25741868 PMID:26355662 PMID:28041643 PMID:28492532 PMID:31456290 PMID:31872526 PMID:32188692 PMID:33188265 PMID:33851411 PMID:34795310 PMID:9326942 PMID:9536098
Rlbp1 ISORLBP1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmentary retinal dystrophy | ClinVar Annotator: match by term: Retinitis punctata albescensPMID:10102298 PMID:10102299 PMID:11449319 PMID:11453974 PMID:11868161 PMID:12536144 PMID:15234312 PMID:15953459 PMID:18344446 PMID:19846785 PMID:20238024 PMID:22171637 PMID:22183382 PMID:22551409 PMID:22559933 PMID:23105016 PMID:25307992 PMID:25326637 PMID:25429852 PMID:25741868 PMID:26355662 PMID:28041643 PMID:28492532 PMID:32188692 PMID:33188265 PMID:9326942
Rlbp1 ISORLBP1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pigmentary retinal dystrophy | ClinVar Annotator: match by term: Retinitis punctata albescens | ClinVar Annotator: match by term: Retinitis punctata albescens, autosomal dominantPMID:10102298 PMID:10102299 PMID:11301032 PMID:11449319 PMID:11453974 PMID:11868161 PMID:12536144 PMID:14718298 PMID:15234312 PMID:15953459 PMID:17576681 PMID:18344446 PMID:19846785 PMID:20238024 PMID:21447491 PMID:22171637 PMID:22183382 PMID:22551409 PMID:22559933 PMID:23105016 PMID:2392416 PMID:24265693 PMID:25307992 PMID:25326637 PMID:25356976 PMID:25429852 PMID:25741868 PMID:26355662 PMID:28041643 PMID:28492532 PMID:31456290 PMID:31872526 PMID:32188692 PMID:33188265 PMID:33851411 PMID:34795310 PMID:9326942 PMID:9536098
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