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GENE - TERM ANNOTATION REPORT

RGD ID: 1352344
Species: Homo sapiens
RGD Object: Gene
Symbol: CNGB3
Name: cyclic nucleotide gated channel subunit beta 3
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)
CNGB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Leber congenital amaurosisPMID:15459792 PMID:15657609 PMID:17576681 PMID:19592100 PMID:20079539 PMID:20574029 PMID:28492532 PMID:28795510 PMID:9536098
CNGB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Leber congenital amaurosisPMID:10888875 PMID:10958649 PMID:15657609 PMID:15712225 PMID:17652762 PMID:20079539 PMID:25558176 PMID:25741868 PMID:28041643 PMID:28492532 PMID:28795510 PMID:29769798
CNGB3 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Leber congenital amaurosisPMID:10888875 PMID:10958649 PMID:12815043 PMID:1347967 PMID:14757870 PMID:15161866 PMID:15657609 PMID:15712225 PMID:16379026 PMID:17265047 PMID:19592100 PMID:23805033 PMID:24033266 PMID:25741868 PMID:25770143 PMID:28041643 PMID:28492532 PMID:28795510 PMID:30544257 PMID:30718709 PMID:32860008 PMID:33546218 PMID:36909829
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