TBP, TATA-box binding protein, 6908

N. diseases: 158; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0234985
Disease: Mental deterioration
Mental deterioration
0.110 GeneticVariation phenotype BEFREE To investigate whether the expansion of CAG repeats of the TATA-binding protein (TBP) gene is involved in the pathogenesis of neurodegenerative diseases, we have screened 118 patients with various forms of neurological disease and identified a sporadic-onset patient with unique neurologic symptoms consisting of ataxia and intellectual deterioration associated with de novo expansion of the CAG repeat of the TBP gene. 10484774 1999
CUI: C0234985
Disease: Mental deterioration
Mental deterioration
0.110 Biomarker phenotype HPO