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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:0050753
Term: cerebellar ataxia
Definition: A hereditary ataxia that is characterized by ataxia originating in the cerebellum. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Cerebellar_ataxia "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 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebellar ataxia 
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebellar ataxiaPMID:28492532
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebellar ataxiaPMID:25741868
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebellar ataxiaPMID:10371528 PMID:19486177 PMID:25735478 PMID:25741868 PMID:27066515 PMID:27250579 PMID:28492532 PMID:31440721
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebellar ataxiaPMID:15173248 PMID:25741868 PMID:26467025 PMID:27400454 PMID:28252636 PMID:28492532 PMID:31719132 PMID:35401678
CACNA1A ISSCacna1a (Mus musculus)13592920MouseDO  
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