rs550921485, HPCA

N. diseases: 3
Disease: DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder) ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder)
CUI: C1857093
Disease: DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder)
0.800 GeneticVariation UNIPROT Biophysical and functional characterization of hippocalcin mutants responsible for human dystonia. 28398555 2017
DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder)
CUI: C1857093
Disease: DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder)
0.800 GeneticVariation UNIPROT Mutations in HPCA cause autosomal-recessive primary isolated dystonia. 25799108 2015
DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder)
CUI: C1857093
Disease: DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder)
0.800 CausalMutation CLINVAR