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GENE - TERM ANNOTATION REPORT

RGD ID: 1319524
Species: Homo sapiens
RGD Object: Gene
Symbol: KCNV2
Name: potassium voltage-gated channel modifier subfamily V member 2
Acc ID: DOID:0050795
Term: cone dystrophy
Definition: A retinal disease that is characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Cone_dystrophy "DO" "DO", http://rarediseases.org/rare-disease-information/rare-diseases/byID/847/viewAbstract "DO" "DO", http://www.ncbi.nlm.nih.gov/books/NBK1418/ "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)
KCNV2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cone dystrophyPMID:16909397 PMID:17896311 PMID:18235024 PMID:21882291 PMID:25741868 PMID:28492532 PMID:36909829
KCNV2 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cone dystrophyPMID:25741868
KCNV2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cone dystrophyPMID:16909397 PMID:18235024 PMID:25741868 PMID:28492532
KCNV2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: RETINAL CONE DYSTROPHYPMID:23885164 PMID:25741868 PMID:28492532
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