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GENE - TERM ANNOTATION REPORT

RGD ID: 735422
Species: Mus musculus
RGD Object: Gene
Symbol: Hpca
Name: hippocalcin
Acc ID: DOID:0090038
Term: torsion dystonia 2
Definition: A dystonia that initially involves the distal limbs and later involves the neck, orofacial, and craniocervical regions, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hippocalcin (HPCA) gene on chromosome 1p35. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/25799108, https://www.omim.org/entry/224500
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)
 ISORGD:7354217240710OMIM  
 ISORGD:7354218554872ClinVarClinVar Annotator: match by term: Dystonia 2, torsion, autosomal recessive

PMID:14694054, PMID:25799108, PMID:6115727
 ISORGD:7354218554872ClinVarClinVar Annotator: match by term: Dystonia 2, torsion, autosomal recessive

PMID:25799108
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.