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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:0001324
Term: Muscle weakness
Definition: Reduced strength of muscles.
Definition Source(s): https://orcid.org/0000-0002-0736-9199, PMID:15832536
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: Muscle weakness

PMID:25741868 PMID:26467025 PMID:28492532
CACNA1A IAGP 8699517HPO OMIM:108500
CACNA1A IAGP 8699517HPO ORPHA:569
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