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GENE - TERM ANNOTATION REPORT

RGD ID: 1308712
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Guca1a
Name: guanylate cyclase activator 1A
Acc ID: DOID:0080314
Term: cone-rod dystrophy 14
Definition: A cone-rod dystrophy that is characterized by deterioration of the cone in childhood or early adult life and progressive deterioration of the rod photoreceptor cells in later life that has_material_basis_in mutation in the GUCA1A gene on chromosome 6p21.1. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/28125083 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/9425234 "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)
Guca1a ISOGUCA1A (Homo sapiens)7240710OMIM  
Guca1a ISOGUCA1A (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Guca1a ISOGUCA1A (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cone dystrophy 3 | ClinVar Annotator: match by term: Cone-rod dystrophy 14 | ClinVar Annotator: match by term: GUCA1A-related conditionPMID:11146732 PMID:11484154 PMID:15505030 PMID:15735604 PMID:15790869 PMID:15953638 PMID:18706439 PMID:19459154 PMID:23472098 PMID:24024198 PMID:24352742 PMID:24566882 PMID:24875811 PMID:2552515 PMID:25741868 PMID:2635877 PMID:26358777 PMID:26766544 PMID:28025326 PMID:28041643 PMID:28125083 PMID:28442884 PMID:28492532 PMID:28559085 PMID:29555955 PMID:30184081 PMID:30622141 PMID:30718709 PMID:31728034 PMID:31882816 PMID:31979372 PMID:32025184 PMID:32531858 PMID:33546218 PMID:36259723 PMID:36460718 PMID:9425045 PMID:9425234 PMID:9651312 PMID:9702199
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