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GENE - TERM ANNOTATION REPORT

RGD ID: 735421
Species: Homo sapiens
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 "DO" "DO", https://www.omim.org/entry/224500 "DO" "DO"
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)
HPCA IAGP 7240710OMIM  
HPCA EXP 11554173CTDCTD Direct Evidence: marker/mechanism 
HPCA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Torsion dystonia 2PMID:14694054 PMID:25799108 PMID:6115727
HPCA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Torsion dystonia 2PMID:25799108 PMID:28492532
HPCA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Torsion dystonia 2PMID:25799108
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