TBP, TATA-box binding protein, 6908

N. diseases: 158; N. variants: 3
Disease: Seizures ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures 		0.130 GeneticVariation phenotype BEFREE The affected mother had a history of hydrocephalus, developmental delay, and seizures commonly associated with DLL1 and TBP 6q27 deletions. 30194807 2018
CUI: C0036572
Disease: Seizures
Seizures 		0.130 GeneticVariation phenotype BEFREE Here we describe the case of a 38-year-old male presenting with ataxia, cognitive impairment and seizures, who was found to carry 43 repeats on one allele of the TATA-binding protein (TBP) gene. 21710129 2011
CUI: C0036572
Disease: Seizures
Seizures 		0.130 GeneticVariation phenotype BEFREE As a group, patients with a TSC2 mutation had earlier age at seizure onset, lower cognition index, more tubers, and a greater TBP than those with a TSC1 mutation, but the ranges overlapped considerably. 18032745 2008
CUI: C0036572
Disease: Seizures
Seizures 		0.130 Biomarker phenotype HPO