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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:0002066
Term: Gait ataxia
Definition: A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.
Definition Source(s): HPO_CONTRIBUTOR:UKT_rschuele, 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: Gait ataxia

PMID: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 8699517HPO ORPHA:98758
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