THAP1, THAP domain containing 1, 55145

N. diseases: 51; N. variants: 27
Disease: Dystonia 6, torsion (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554599616
rs1554599616
Entrez Id: 55145
Gene Symbol: THAP1
THAP1
CUI: C1414216
Disease:
Dystonia 6, torsion (disorder) 		A 0.700 CausalMutation CLINVAR Novel THAP1 variants in Brazilian patients with idiopathic isolated dystonia. 24976531 2014
dbSNP: rs1554599616
rs1554599616
Entrez Id: 55145
Gene Symbol: THAP1
THAP1
CUI: C1414216
Disease:
Dystonia 6, torsion (disorder) 		A 0.700 CausalMutation CLINVAR Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study. 19345147 2009