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GENE - TERM ANNOTATION REPORT

RGD ID: 1313701
Species: Homo sapiens
RGD Object: Gene
Symbol: COL6A2
Name: collagen type VI alpha 2 chain
Acc ID: HP:0002064
Term: Spastic gait
Definition: Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg.
Definition Source(s): PMID:25649546
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)
COL6A2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spastic gait

PMID:25741868 PMID:28492532 PMID:30755392
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