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GENE - TERM ANNOTATION REPORT

RGD ID: 2244
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Cacna1a
Name: calcium voltage-gated channel subunit alpha1 A
Acc ID: DOID:0050956
Term: spinocerebellar ataxia type 6
Definition: An autosomal dominant cerebellar ataxia that is characterized by progresive ataxia, has_material_basis_in mutation in the CACNA1A gene. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-6 "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)
Cacna1a ISOCACNA1A (Homo sapiens)7240710OMIM  
Cacna1a ISOCACNA1A (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spinocerebellar ataxia type 6PMID:10371528 PMID:10408534 PMID:10734061 PMID:10987655 PMID:11176968 PMID:11439943 PMID:11742003 PMID:12056940 PMID:12707077 PMID:14718690 PMID:15173248 PMID:15240985 PMID:15452324 PMID:15985579 PMID:16306128 PMID:16325861 PMID:16787562 PMID:17142831 PMID:17292920 PMID:17588611 PMID:18056581 PMID:18354422 PMID:18434528 PMID:18437043 PMID:18597946 PMID:19344873 PMID:19486177 PMID:19624685 PMID:19811514 PMID:20080591 PMID:20097664 PMID:20301562 PMID:20301674 PMID:20837964 PMID:21183743 PMID:21734179 PMID:22249839 PMID:22527033 PMID:22784462 PMID:23183922 PMID:23407676 PMID:23831250 PMID:24033266 PMID:24486772 PMID:24498617 PMID:24996492 PMID:25326635 PMID:25481746 PMID:25596066 PMID:25735478 PMID:25741868 PMID:25741909 PMID:25758715 PMID:25851414 PMID:25969684 PMID:26467025 PMID:26716990 PMID:26814174 PMID:26912519 PMID:27066515 PMID:27250579 PMID:27400454 PMID:27959697 PMID:28007337 PMID:28252636 PMID:28444220 PMID:28492532 PMID:28742085 PMID:28900389 PMID:28978442 PMID:29053796 PMID:29056246 PMID:29062094 PMID:29100083 PMID:29165669 PMID:29444203 PMID:29482223 PMID:29997391 PMID:30011838 PMID:30063100 PMID:30142438 PMID:30283815 PMID:31115040 PMID:31139143 PMID:31468518 PMID:31487502 PMID:31719132 PMID:32170034 PMID:33084218 PMID:33163565 PMID:33425808 PMID:33737904 PMID:33790770 PMID:34102571 PMID:34356170 PMID:35401678 PMID:36530930 PMID:8898206 PMID:9329229 PMID:9345107 PMID:97053792
Cacna1a ISSCacna1a (Mus musculus)13592920MouseDOOMIM:183086 
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