TBP, TATA-box binding protein, 6908

N. diseases: 158; N. variants: 3
Disease: Chorea ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008489
Disease: Chorea
Chorea 		0.120 Biomarker phenotype BEFREE The SCA17 clinical phenotype includes characteristics associated with cerebellar and cortical atrophy such as ataxia, dementia, epilepsy, chorea and parkinsonian features. 21710129 2011
CUI: C0008489
Disease: Chorea
Chorea 		0.120 GeneticVariation phenotype BEFREE We screened a cohort of 181 patients with features of primary progressive ataxia and chorea for spinocerebellar ataxias 17 (SCA17) mutation after excluding other known SCAs, Huntington's disease (HD), dentatorubral-pallidoluysian atrophy (DRPLA), and non-genetic causes. 21108634 2011
CUI: C0008489
Disease: Chorea
Chorea 		0.120 Biomarker phenotype HPO