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GENE - TERM ANNOTATION REPORT

RGD ID: 12111489
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: CNGB3
Name: cyclic nucleotide gated channel subunit beta 3
Acc ID: DOID:13911
Term: achromatopsia
Definition: A color blindness that is characterized by a congenital cone color vision disorder, the inability to perceive color and to achieve satisfactory visual acuity at high light levels has_material_basis_in autosomal recessive inheritance. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Achromatopsia "DO" "DO", http://www.ncbi.nlm.nih.gov/books/NBK1418/ "DO" "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=49382 "DO" "DO", http://www.sciencedirect.com/science/article/pii/S0161642009010008 "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)
CNGB3 ISOCNGB3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: AchromatopsiaPMID:10888875 PMID:10958649 PMID:12187429 PMID:12815043 PMID:1347967 PMID:14757870 PMID:15161866 PMID:15459792 PMID:15657609 PMID:15712225 PMID:1572225 PMID:16199547 PMID:16319819 PMID:16379026 PMID:17265047 PMID:17576681 PMID:17652762 PMID:19592100 PMID:20079539 PMID:22264887 PMID:22975760 PMID:22995991 PMID:23776498 PMID:23805033 PMID:24033266 PMID:24148654 PMID:24504161 PMID:25205868 PMID:25326637 PMID:25474149 PMID:25525159 PMID:25558176 PMID:25616768 PMID:25741868 PMID:25770143 PMID:26106334 PMID:26992781 PMID:27479814 PMID:27874104 PMID:28005958 PMID:28041643 PMID:28224992 PMID:28418496 PMID:28492532 PMID:28795510 PMID:29186038 PMID:29769798 PMID:30418171 PMID:30718709 PMID:31456290 PMID:31544997 PMID:32860008 PMID:32869108 PMID:32913385 PMID:33546218 PMID:34703197 PMID:35119454 PMID:35672425 PMID:36909829 PMID:9536098
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