TBK1, TANK binding kinase 1, 29110

N. diseases: 207; N. variants: 26
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease
0.120 GeneticVariation disease CLINVAR Genetic epidemiology of motor neuron disease-associated variants in the Scottish population. 28089114 2017
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease
0.120 Biomarker disease BEFREE This study provides an accurate description of the genetic epidemiology of MND in Scotland and provides support for the contribution of both TBK1 and NEK1 to MND susceptibility in the Scottish population. 28089114 2017
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease
0.120 GeneticVariation disease BEFREE Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease. 25943890 2015