TTBK2, tau tubulin kinase 2, 146057

N. diseases: 46; N. variants: 4
Disease: Ataxia, Spinocerebellar ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar 		0.340 GeneticVariation disease BEFREE A Novel TTBK2 De Novo Mutation in a Danish Family with Early-Onset Spinocerebellar Ataxia. 27165044 2017
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar 		0.340 GeneticVariation disease BEFREE The spinocerebellar ataxia-associated gene Tau tubulin kinase 2 controls the initiation of ciliogenesis. 23141541 2012
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar 		0.340 GeneticVariation disease BEFREE TTBK2 kinase substrate specificity and the impact of spinocerebellar-ataxia-causing mutations on expression, activity, localization and development. 21548880 2011
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar 		0.340 Biomarker disease BEFREE These data suggest that TTBK2 is important in the tau cascade and in spinocerebellar degeneration. 18037885 2007
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar 		0.340 Biomarker disease CTD_human These data suggest that TTBK2 is important in the tau cascade and in spinocerebellar degeneration. 18037885 2007