TBP, TATA-box binding protein, 6908

N. diseases: 158; N. variants: 3
Disease: Cardiac Arrest ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		0.100 GeneticVariation disease BEFREE Although the frequency of SCA genotypes differs between geographic regions throughout Japan, SCA6, SCA3/MJD, and DRPLA are the three major disorders, while SCA7, SCA8, SCA10, SCA12, and SCA17 are infrequent or almost undetected. 14526181 2003
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		0.100 Biomarker disease BEFREE Five families with SCA17 represent a significant portion of ataxic patients and this should be reflected in the diagnostics of SCAs in the Czech population. 22872568 2013
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		0.100 GeneticVariation disease BEFREE SCA3/MJD was the most common type of autosomal dominant SCA in mainland Chinese, accounting for 83 patients from 59 families (49.2%), followed by SCA2 [8 (6.7%)], SCA1 [7 (5.8%)], SCA6 [4 (3.3%)], SCA7 [1 (0.8%)], SCA8 (0%), SCA10 (0%), SCA12 (0%), SCA14 (0%), SCA17 (0%) and DRPLA (0%). 15989765 2005
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		0.100 GeneticVariation disease BEFREE Spinocerebellar ataxia (SCA) type 17 is an autosomal dominant ataxia caused by expanded polyglutamine (polyQ) tract in the TATA-box binding protein (TBP). 30760647 2019
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		0.100 GeneticVariation disease BEFREE Subsequently, CAG/CAA repeat expansions in the TBP gene were identified in families with spinocerebellar ataxia (SCA), establishing this repeat expansion as the underlying mutation in SCA type 17 (SCA17). 29427105 2018
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		0.100 GeneticVariation disease BEFREE The frequency of SCA subtypes in autosomal dominant group was: 1) 5.5% for SCA1; 2) 2.4% for SCA2; 3) 27.6% for MJD/SCA3; 4) 25.5% for SCA6; 5) 0.3% for SCA17; and 6) 7.3% for DRPLA. 12116198 2002
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		0.100 GeneticVariation disease BEFREE There is some debate about what to include in a list of Huntington-like disorders, with several review articles about Huntington-like syndromes not including SCA in the differential diagnosis, except for SCA17. 25456461 2014
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		0.100 GeneticVariation disease BEFREE We found that SCA3/MJD was the most common type of autosomal dominant SCA in Mainland Chinese, accounting for 83 patients from 59 families (49.2%), followed by SCA2 (8 [6.7%]), SCA1 (7 [5.8%]), SCA6 (4 [3.3%]), SCA7 (1 [0.8%]), SCA8 (0%), SCA10 (0%), SCA12 (1 [0.8%]), SCA14 (0%), SCA17 (0%) and DRPLA (0%). 15979648 2005
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		0.100 GeneticVariation disease BEFREE We have created a new SCA-locus-specific variation database (LSVD) that aims to catalog and integrate information on SCAs associated with trinucleotide repeat expansion (SCA1, SCA 2, SCA 3, SCA 6, SCA 7, SCA 8, SCA 12, SCA 17, Friedreich's ataxia [FRDA], and dentatorubral-pallidoluysian atrophy [DRPLA]) from all over the world. 19370769 2009
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		0.100 Biomarker disease BEFREE We identified a novel spinocerebellar ataxia (SCA) form in four Japanese pedigrees which is caused by an abnormal CAG expansion in the TATA-binding protein (TBP) gene, a general transcription initiation factor. 11448935 2001