TBC1D24, TBC1 domain family member 24, 57465

N. diseases: 218; N. variants: 39
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.110 GeneticVariation group BEFREE We propose that the TBC1D24/Sky TLDc domain is a reactive oxygen species sensor mediating synaptic vesicle trafficking rates that, when dysfunctional, causes a movement disorder in patients and flies. 31257402 2019
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.110 CausalMutation group CLINVAR Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability. 28663785 2017
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.110 CausalMutation group CLINVAR TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus. 28428906 2017
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.110 CausalMutation group CLINVAR Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation. 28292732 2017
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.110 CausalMutation group CLINVAR Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations. 27541164 2016
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.110 CausalMutation group CLINVAR TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features. 27281533 2016
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.110 CausalMutation group CLINVAR Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability. 25769375 2015
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.110 CausalMutation group CLINVAR A Novel Homozygous TBC1D24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement. 26207815 2015
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.110 CausalMutation group CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220 2014
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.110 CausalMutation group CLINVAR TBC1D24 regulates neuronal migration and maturation through modulation of the ARF6-dependent pathway. 24469796 2014
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.110 CausalMutation group CLINVAR Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86. 24387994 2014
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.110 CausalMutation group CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651 2014