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GENE - TERM ANNOTATION REPORT

RGD ID: 12073166
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: PDE6B
Name: phosphodiesterase 6B
Acc ID: DOID:0110375
Term: retinitis pigmentosa 40
Definition: A retinitis pigmentosa that has_material_basis_in mutation in the PDE6B gene on chromosome 4p16. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/8394174 "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)
PDE6B ISOPDE6B (Homo sapiens)7240710OMIM  
PDE6B ISOPDE6B (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: PDE6B-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 40PMID:10234513 PMID:12525556 PMID:16199547 PMID:17267005 PMID:17576681 PMID:18310263 PMID:18723146 PMID:18854872 PMID:20591486 PMID:21147909 PMID:21655355 PMID:22334370 PMID:24033266 PMID:25097241 PMID:25356976 PMID:25472526 PMID:25741868 PMID:25823529 PMID:25827439 PMID:26155838 PMID:26667666 PMID:26868535 PMID:26872967 PMID:27596865 PMID:28041643 PMID:28130426 PMID:28224992 PMID:28492532 PMID:28559085 PMID:28981474 PMID:29472945 PMID:29785639 PMID:30029497 PMID:30718709 PMID:30924848 PMID:30998820 PMID:31054281 PMID:31630094 PMID:31877679 PMID:32531858 PMID:33090715 PMID:33673512 PMID:34906470 PMID:35836572 PMID:36460718 PMID:36819107 PMID:7599633 PMID:7724547 PMID:8394174 PMID:8595886 PMID:9536098 PMID:9543643
PDE6B IAGP 12801476OMIARetinal atrophy - Rod-cone dysplasia 1PMID:1081095 PMID:13059279 PMID:13081944 PMID:1323314 PMID:8387203 PMID:8002249 PMID:7796608 PMID:7724547 PMID:7474961 PMID:8544201 PMID:7409013 PMID:6295790 PMID:2895011 PMID:8261797 PMID:9135869 PMID:2558906 PMID:9987922 PMID:15876657 PMID:15580972 PMID:22065099 PMID:24367709 PMID:24581223 PMID:26857842 PMID:29263354 PMID:33432105 PMID:35604672 PMID:34954206 PMID:38028226
PDE6B IAGP 12801476OMIARetinal atrophy - Rod-cone dysplasia 1aPMID:22065099 PMID:11124530
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