TBP, TATA-box binding protein, 6908

N. diseases: 158; N. variants: 3
Disease: Parkinsonian Disorders ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.170 GeneticVariation group BEFREE The glucocerebrosidase and β-hexosaminidase activities were not different in patients with sPD, PD with PARK2 mutations, and SCA17 with parkinsonism from those of the controls. 26705847 2016
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.170 Biomarker group BEFREE SCA17 can have various clinical presentations including parkinsonism, ataxia, chorea and dystonia. 26267067 2015
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.170 GeneticVariation group BEFREE In addition, an unclear cutoff of the pathologic range is the key issue in SCA17 related parkinsonism.SCA3 is more common in western cohorts. 25866756 2015
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.170 Biomarker group BEFREE Some ADCAs often presented non-ataxia symptoms at onset, such as SCA7 (visual impairment), SCA14 (myoclonus) and SCA17 (parkinsonism). 24765663 2014
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.170 Biomarker group BEFREE Relative contribution of SCA2, SCA3 and SCA17 in Korean patients with parkinsonism and ataxia. 21334959 2011
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.170 GeneticVariation group BEFREE Low-range expansion of the SCA17 gene is not a rare genetic cause of parkinsonism without ataxia in our population. 19380697 2009
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.170 GeneticVariation group BEFREE We conclude that SCA-17 repeat expansion mutations are not a common cause of familial parkinsonism. 12853230 2003
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.170 Biomarker group HPO