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: C0917800
Disease: Epilepsy, Myoclonic, Infantile
Epilepsy, Myoclonic, Infantile 		0.760 GermlineCausalMutation disease ORPHANET TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy. 20727515 2010
CUI: C0795927
Disease: Deafness, congenital onychodystrophy, recessive form
Deafness, congenital onychodystrophy, recessive form 		0.300 GermlineCausalMutation phenotype ORPHANET The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220 2014
CUI: C4706413
Disease: Progressive myoclonic epilepsy with dystonia
Progressive myoclonic epilepsy with dystonia 		0.300 GermlineCausalMutation disease ORPHANET TBC1D24 truncating mutation resulting in severe neurodegeneration. 23343562 2013
CUI: C4706413
Disease: Progressive myoclonic epilepsy with dystonia
Progressive myoclonic epilepsy with dystonia 		0.300 GermlineCausalMutation disease ORPHANET Early-onset progressive myoclonic epilepsy with dystonia mapping to 16pter-p13.3. 21087195 2010
CUI: C3809173
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16 		0.800 CausalMutation disease CLINVAR
CUI: C0917800
Disease: Epilepsy, Myoclonic, Infantile
Epilepsy, Myoclonic, Infantile 		0.760 CausalMutation disease CLINVAR
CUI: C0795934
Disease: Digitorenocerebral Syndrome
Digitorenocerebral Syndrome 		0.700 CausalMutation disease CLINVAR More information is needed to understand the cellular roles of TBC1D24 and identify the genes responsible for DOORS phenotypes in individuals who do not have a mutation in TBC1D24. 24291220 2014
CUI: C0795934
Disease: Digitorenocerebral Syndrome
Digitorenocerebral Syndrome 		0.700 CausalMutation disease CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651 2014
CUI: C2829265
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 86
DEAFNESS, AUTOSOMAL RECESSIVE 86 		0.700 CausalMutation disease CLINVAR Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86. 24387994 2014
CUI: C3892048
Disease: DEAFNESS, AUTOSOMAL DOMINANT 65
DEAFNESS, AUTOSOMAL DOMINANT 65 		0.700 CausalMutation disease CLINVAR High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. 29100083 2017
CUI: C3892048
Disease: DEAFNESS, AUTOSOMAL DOMINANT 65
DEAFNESS, AUTOSOMAL DOMINANT 65 		0.700 CausalMutation disease CLINVAR Electroclinical phenotypes and outcomes in TBC1D24-related epilepsy. 27502353 2016
CUI: C1842531
Disease: Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp
Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp 		0.400 CausalMutation disease CLINVAR
CUI: C0036572
Disease: Seizures
Seizures 		0.180 CausalMutation phenotype CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220 2014
CUI: C0036572
Disease: Seizures
Seizures 		0.180 CausalMutation phenotype CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651 2014
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 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 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 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 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 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 DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651 2014
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 A Novel Homozygous TBC1D24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement. 26207815 2015