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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: HP:0001251
Term: Ataxia
Definition: Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Definition Source(s): https://orcid.org/0000-0002-0736-9199
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 ataxia

PMID:28492532
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebellar ataxia

PMID:25741868
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cerebellar ataxia

PMID: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 ataxia

PMID:15173248 PMID:25741868 PMID:26467025 PMID:27400454 PMID:28252636 PMID:28492532 PMID:31719132 PMID:35401678
CACNA1A IAGP 8699517HPO OMIM:141500
CACNA1A IAGP 8699517HPO OMIM:183086
CACNA1A IAGP 8699517HPO OMIM:617106
CACNA1A IAGP 8699517HPO ORPHA:2131
CACNA1A IAGP 8699517HPO ORPHA:442835
CACNA1A IAGP 8699517HPO ORPHA:71518
CACNA1A IAGP 8699517HPO ORPHA:97
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