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GENE - TERM ANNOTATION REPORT

RGD ID: 10265
Species: Mus musculus
RGD Object: Gene
Symbol: Cacna1a
Name: calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
Acc ID: DOID:0050753
Term: cerebellar ataxia
Definition: Incoordination of voluntary movements that occur as a manifestation of CEREBELLAR DISEASES. Characteristic features include a tendency for limb movements to overshoot or undershoot a target (dysmetria), a tremor that occurs during attempted movements (intention TREMOR), impaired force and rhythm of diadochokinesis (rapidly alternating movements), and GAIT ATAXIA. (From Adams et al., Principles of Neurology, 6th ed, p90)
Definition Source(s): MESH:D002524, http://en.wikipedia.org/wiki/Cerebellar_ataxia
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.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 IEA 13592920MouseDO  
 ISORGD:7359508554872ClinVarClinVar Annotator: match by term: Cerebellar ataxia

 
 ISORGD:7359508554872ClinVarClinVar Annotator: match by term: Cerebellar ataxia

PMID:15173248, PMID:25741868, PMID:26467025, PMID:27400454, PMID:28492532
 ISORGD:7359508554872ClinVarClinVar Annotator: match by term: Cerebellar ataxia

PMID:25741868
 ISORGD:7359508554872ClinVarClinVar Annotator: match by term: Cerebellar ataxia

PMID:25741868, PMID:27066515, PMID:28492532
 ISORGD:7359508554872ClinVarClinVar Annotator: match by term: Cerebellar ataxia

PMID:28492532
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.