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GENE - TERM ANNOTATION REPORT

RGD ID: 735950
Species: Homo sapiens
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 IAGP 7240710OMIM  
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spinocerebellar ataxia type 6PMID:22249839 PMID:25741868 PMID:27959697 PMID:28007337 PMID:28492532 PMID:29056246 PMID:29100083 PMID:30283815 PMID:31468518 PMID:31487502
CACNA1A IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spinocerebellar ataxia type 6PMID:25741868 PMID:28492532
CACNA1A IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spinocerebellar ataxia type 6PMID:25741868
CACNA1A IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spinocerebellar ataxia type 6PMID:25741868 PMID:26467025 PMID:28492532
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spinocerebellar ataxia type 6PMID:19811514 PMID:20097664 PMID:21183743 PMID:22249839 PMID:23831250 PMID:25596066 PMID:25741868 PMID:25758715 PMID:26467025 PMID:26814174 PMID:28007337 PMID:28492532 PMID:31139143 PMID:34102571
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spinocerebellar ataxia type 6PMID:19344873 PMID:25741868 PMID:29165669
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spinocerebellar ataxia type 6PMID:25741868 PMID:28492532 PMID:29482223
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spinocerebellar ataxia type 6PMID:10371528 PMID:16306128 PMID:19486177 PMID:25735478 PMID:25741868 PMID:27250579 PMID:28492532 PMID:29062094
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spinocerebellar ataxia type 6PMID:25741868 PMID:26467025 PMID:26912519 PMID:27066515 PMID:28444220 PMID:28492532 PMID:30142438 PMID:31654490 PMID:34806130 PMID:35401678 PMID:35722745 PMID:37555011
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spinocerebellar ataxia type 6PMID:25741868 PMID:29053796
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spinocerebellar ataxia type 6PMID:11439943 PMID:18437043 PMID:25741868 PMID:28492532 PMID:30063100 PMID:32170034
CACNA1A IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spinocerebellar ataxia type 6 
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spinocerebellar ataxia type 6PMID:33737904
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spinocerebellar ataxia type 6PMID:18597946 PMID:25741868 PMID:28007337 PMID:28492532 PMID:29997391 PMID:31115040 PMID:33163565 PMID:33425808 PMID:33790770 PMID:34356170
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spinocerebellar ataxia type 6PMID:10987655 PMID:25741868 PMID:26467025 PMID:26814174 PMID:28444220 PMID:28492532 PMID:28978442 PMID:29482223 PMID:35401678
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spinocerebellar ataxia type 6PMID:11742003 PMID:14718690 PMID:15985579 PMID:18434528 PMID:28492532 PMID:9345107
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spinocerebellar ataxia type 6PMID:10408534 PMID:10734061 PMID:11176968 PMID:11439943 PMID:12056940 PMID:12707077 PMID:17142831 PMID:18056581 PMID:19624685 PMID:20301562 PMID:20837964 PMID:22527033 PMID:23407676 PMID:24486772 PMID:24498617 PMID:25741868 PMID:25969684 PMID:26467025 PMID:26814174 PMID:27066515 PMID:28492532 PMID:28900389 PMID:29444203 PMID:33084218 PMID:35401678 PMID:36530930
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spinocerebellar ataxia type 6PMID:15240985 PMID:15452324 PMID:20837964 PMID:25741868 PMID:28492532
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spinocerebellar ataxia type 6PMID:17292920 PMID:17588611 PMID:20080591 PMID:21734179 PMID:22784462 PMID:23183922 PMID:24033266 PMID:24996492 PMID:25741868 PMID:25851414 PMID:26467025 PMID:26716990 PMID:28492532 PMID:8898206 PMID:9329229 PMID:97053792
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spinocerebellar ataxia type 6PMID:16325861 PMID:16787562 PMID:18354422 PMID:20301674 PMID:24486772 PMID:25326635 PMID:25481746 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28742085 PMID:30011838
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spinocerebellar ataxia type 6PMID:15173248 PMID:25741868 PMID:26467025 PMID:27400454 PMID:28252636 PMID:28492532 PMID:31719132 PMID:35401678
CACNA1A ISSCacna1a (Mus musculus)13592920MouseDOOMIM:183086 
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