TTBK2, tau tubulin kinase 2, 146057

N. diseases: 46; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.020 Biomarker disease BEFREE We reveal that many hub genes and TFs including ttbk-2, daf-16, and unc-49 have human and mouse orthologues that are directly or potentially associated with AD and neural development. 31291334 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.020 Biomarker disease BEFREE Both TTBK1 and TTBK2 were initially identified as tau kinases and TTBK1 has been shown to phosphorylate tau epitopes commonly observed in Alzheimer's disease and other tauopathies. 29409526 2018
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.010 Biomarker disease BEFREE Furthermore, protein levels of TTBK1 and TTBK2 are increased in frontal cortex of FTLD-TDP patients, and TTBK1 and TTBK2 co-localize with TDP-43 inclusions in ALS spinal cord. 25473830 2014
CUI: C0004134
Disease: Ataxia
Ataxia 		0.010 Biomarker phenotype BEFREE We provided the evidence that SCA11 is a rare form of ataxia in China. 19768375 2010
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 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 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 Biomarker disease CTD_human These data suggest that TTBK2 is important in the tau cascade and in spinocerebellar degeneration. 18037885 2007
CUI: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		0.010 GeneticVariation disease BEFREE Researchers have recently found that SCA type 11 (SCA11) is associated with mutations in the TTBK2 gene. 19768375 2010
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.010 Biomarker phenotype BEFREE We provided the evidence that SCA11 is a rare form of ataxia in China. 19768375 2010
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.110 Biomarker disease HPO
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.110 Biomarker disease BEFREE The first SCA11-affected family in China was characterized by gait instability, movement disorders and dysarthria with obvious cerebellar atrophy. 31485862 2020
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.100 Biomarker group HPO
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		0.100 Biomarker phenotype HPO
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.100 Biomarker disease HPO
CUI: C0013421
Disease: Dystonia
Dystonia 		0.100 Biomarker phenotype HPO
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.010 AlteredExpression disease BEFREE Furthermore, protein levels of TTBK1 and TTBK2 are increased in frontal cortex of FTLD-TDP patients, and TTBK1 and TTBK2 co-localize with TDP-43 inclusions in ALS spinal cord. 25473830 2014
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		0.100 Biomarker phenotype HPO
CUI: C0017638
Disease: Glioma
Glioma 		0.010 Biomarker disease BEFREE Stable knockdown of circ-TTBK2 or overexpression of miR-217 glioma cell lines (U87 and U251) were established to explore the function of circ-TTBK2 and miR-217 in glioma cells. 28219405 2017
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.100 GeneticVariation phenotype GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
CUI: C0271385
Disease: Horizontal Nystagmus
Horizontal Nystagmus 		0.100 Biomarker disease HPO
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		0.100 Biomarker phenotype HPO
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		0.300 Biomarker disease GENOMICS_ENGLAND