rs550921485, HPCA

N. diseases: 3
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
Dystonia
CUI: C0013421
Disease: Dystonia
0.010 GeneticVariation BEFREE With the advent of next-generation sequencing technologies, the homozygous mutations T71N and A190T in the neuronal calcium sensor (NCS) hippocalcin were identified as the genetic cause of primary isolated dystonia (DYT2 dystonia). 28398555 2017
Dystonia Disorders
CUI: C0393593
Disease: Dystonia Disorders
0.010 GeneticVariation BEFREE With the advent of next-generation sequencing technologies, the homozygous mutations T71N and A190T in the neuronal calcium sensor (NCS) hippocalcin were identified as the genetic cause of primary isolated dystonia (DYT2 dystonia). 28398555 2017