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GENE - TERM ANNOTATION REPORT

RGD ID: 1320102
Species: Mus musculus
RGD Object: Gene
Symbol: Rlbp1
Name: retinaldehyde binding protein 1
Acc ID: DOID:0050683
Term: Bothnia retinal dystrophy
Definition: A fundus dystrophy that is characterized by early onset of night blindness and decreased visual acuity that progresses to blindness in early adulthood, has_material_basis_in mutation in RLBP1 gene. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/11176989 "DO" "DO", https://www.omim.org/entry/607475 "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: Bothnia retinal dystrophy | ClinVar Annotator: match by term: VASTERBOTTEN DYSTROPHYPMID:10102298 PMID:10102299 PMID:11449319 PMID:12536144 PMID:15234312 PMID:15953459 PMID:18344446 PMID:19846785 PMID:20238024 PMID:22171637 PMID:22183382 PMID:25326637 PMID:25429852 PMID:25741868 PMID:25741909 PMID:26355662 PMID:28492532 PMID:31456290 PMID:32188692
Rlbp1 IAGP 13592920MouseDOOMIM:607475 
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