HPCA, hippocalcin, 3208

N. diseases: 24; N. variants: 4
Disease: DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs550921485
rs550921485
Entrez Id: 3208
Gene Symbol: HPCA
HPCA
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
dbSNP: rs775863165
rs775863165
Entrez Id: 3208
Gene Symbol: HPCA
HPCA
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
dbSNP: rs550921485
rs550921485
Entrez Id: 3208
Gene Symbol: HPCA
HPCA
CUI: C1857093
Disease:
DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder) 		0.800 GeneticVariation UNIPROT Mutations in HPCA cause autosomal-recessive primary isolated dystonia. 25799108 2015
dbSNP: rs775863165
rs775863165
Entrez Id: 3208
Gene Symbol: HPCA
HPCA
CUI: C1857093
Disease:
DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder) 		0.800 GeneticVariation UNIPROT Mutations in HPCA cause autosomal-recessive primary isolated dystonia. 25799108 2015
dbSNP: rs550921485
rs550921485
Entrez Id: 3208
Gene Symbol: HPCA
HPCA
CUI: C1857093
Disease:
DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder) 		A 0.800 CausalMutation CLINVAR
dbSNP: rs775863165
rs775863165
Entrez Id: 3208
Gene Symbol: HPCA
HPCA
CUI: C1857093
Disease:
DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder) 		A 0.800 CausalMutation CLINVAR
dbSNP: rs786205675
rs786205675
Entrez Id: 3208
Gene Symbol: HPCA
HPCA
CUI: C1857093
Disease:
DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder) 		A 0.800 CausalMutation CLINVAR
dbSNP: rs786205675
rs786205675
Entrez Id: 3208
Gene Symbol: HPCA
HPCA
CUI: C1857093
Disease:
DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder) 		0.800 GeneticVariation UNIPROT