TBC1D24, TBC1 domain family member 24, 57465

N. diseases: 218; N. variants: 39
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514713
rs397514713
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C3809173
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16 		C 0.800 CausalMutation CLINVAR
dbSNP: rs483352866
rs483352866
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C3892048
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 65 		T 0.800 CausalMutation CLINVAR
dbSNP: rs267607105
rs267607105
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C0917800
Disease:
Epilepsy, Myoclonic, Infantile 		0.710 GeneticVariation UNIPROT TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy. 20727515 2010
dbSNP: rs267607105
rs267607105
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C0917800
Disease:
Epilepsy, Myoclonic, Infantile 		0.710 GeneticVariation UNIPROT A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24. 20797691 2010
dbSNP: rs267607105
rs267607105
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C0917800
Disease:
Epilepsy, Myoclonic, Infantile 		0.710 GeneticVariation BEFREE In the present study, we found that two compound heterozygous missense mutations (D147H and A509V) in TBC1D24, a gene of unknown function, are responsible for FIME. 20727515 2010
dbSNP: rs202162520
rs202162520
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C0376532
Disease:
Epilepsy, Rolandic 		T 0.700 CausalMutation CLINVAR Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. 29358611 2018
dbSNP: rs376712059
rs376712059
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C2829265
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 86 		A 0.700 GeneticVariation CLINVAR TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus. 28428906 2017
dbSNP: rs376712059
rs376712059
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C3892048
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 65 		A 0.700 GeneticVariation CLINVAR Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation. 28292732 2017
dbSNP: rs376712059
rs376712059
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C0917800
Disease:
Epilepsy, Myoclonic, Infantile 		A 0.700 GeneticVariation CLINVAR Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation. 28292732 2017
dbSNP: rs376712059
rs376712059
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C3892048
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 65 		A 0.700 GeneticVariation CLINVAR TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus. 28428906 2017
dbSNP: rs376712059
rs376712059
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C0795934
Disease:
Digitorenocerebral Syndrome 		A 0.700 GeneticVariation CLINVAR Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation. 28292732 2017
dbSNP: rs376712059
rs376712059
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C3809173
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16 		A 0.700 GeneticVariation CLINVAR Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation. 28292732 2017
dbSNP: rs376712059
rs376712059
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C2829265
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 86 		A 0.700 GeneticVariation CLINVAR Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation. 28292732 2017
dbSNP: rs376712059
rs376712059
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C0795934
Disease:
Digitorenocerebral Syndrome 		A 0.700 GeneticVariation CLINVAR TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus. 28428906 2017
dbSNP: rs376712059
rs376712059
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C0917800
Disease:
Epilepsy, Myoclonic, Infantile 		A 0.700 GeneticVariation CLINVAR TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus. 28428906 2017
dbSNP: rs376712059
rs376712059
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C3809173
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16 		A 0.700 GeneticVariation CLINVAR TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus. 28428906 2017
dbSNP: rs747538224
rs747538224
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C3892048
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 65 		G 0.700 CausalMutation CLINVAR High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. 29100083 2017
dbSNP: rs747538224
rs747538224
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C3463992
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		G 0.700 CausalMutation CLINVAR High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. 29100083 2017
dbSNP: rs747538224
rs747538224
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C3809181
Disease:
Caused by mutation in the TBC1 domain family, member 24 gene (TBC1D24, 613577.0004) 		G 0.700 CausalMutation CLINVAR High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. 29100083 2017
dbSNP: rs796053403
rs796053403
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation. 28292732 2017
dbSNP: rs796053403
rs796053403
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation 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
dbSNP: rs796053403
rs796053403
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus. 28428906 2017
dbSNP: rs1057519629
rs1057519629
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C0242422
Disease:
Parkinsonian Disorders 		T 0.700 CausalMutation CLINVAR Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations. 27541164 2016
dbSNP: rs398122965
rs398122965
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C3463992
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		T 0.700 GeneticVariation CLINVAR TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features. 27281533 2016
dbSNP: rs398122965
rs398122965
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C3809181
Disease:
Caused by mutation in the TBC1 domain family, member 24 gene (TBC1D24, 613577.0004) 		T 0.700 GeneticVariation CLINVAR TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features. 27281533 2016