Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder)
0.700 Biomarker disease GENOMICS_ENGLAND HPCA confirmed as a genetic cause of DYT2-like dystonia phenotype. 30145809 2018
DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder)
0.700 GeneticVariation disease UNIPROT Biophysical and functional characterization of hippocalcin mutants responsible for human dystonia. 28398555 2017
DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder)
0.700 GeneticVariation disease UNIPROT Mutations in HPCA cause autosomal-recessive primary isolated dystonia. 25799108 2015
DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder)
0.700 Biomarker disease GENOMICS_ENGLAND Mutations in HPCA cause autosomal-recessive primary isolated dystonia. 25799108 2015
DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder)
0.700 GermlineCausalMutation disease ORPHANET Mutations in HPCA cause autosomal-recessive primary isolated dystonia. 25799108 2015
DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder)
0.700 Biomarker disease GENOMICS_ENGLAND Mutations in HPCA cause autosomal-recessive primary isolated dystonia. 25799108 2015
DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder)
0.700 Biomarker disease CTD_human
DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder)
0.700 CausalMutation disease CLINVAR