TBP, TATA-box binding protein, 6908

N. diseases: 158; N. variants: 3
Disease: Dystonia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013421
Disease: Dystonia
Dystonia 		0.120 GeneticVariation phenotype BEFREE The CAG repeat number in TBP normal alleles appeared to modify the presence of dystonia in SCA1. 29089256 2017
CUI: C0013421
Disease: Dystonia
Dystonia 		0.120 GeneticVariation phenotype BEFREE The subjects in this study included patients with involuntary movement disorders such as cerebellar ataxia, parkinsonism, chorea and dystonia who visited Seoul National University Hospital between Jan. 2006 and Apr.2014 and were screened for SCA17. 26267067 2015
CUI: C0013421
Disease: Dystonia
Dystonia 		0.120 Biomarker phenotype HPO