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: rs748759187
rs748759187
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C0917800
Disease:
Epilepsy, Myoclonic, Infantile 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs761918906
rs761918906
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C1842531
Disease:
Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp 		C 0.700 CausalMutation CLINVAR
dbSNP: rs765965968
rs765965968
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C4022738
Disease:
Neurodevelopmental delay 		T 0.700 CausalMutation CLINVAR
dbSNP: rs765965968
rs765965968
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C2676254
Disease:
Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia 		T 0.700 CausalMutation CLINVAR
dbSNP: rs765965968
rs765965968
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C1843367
Disease:
Poor school performance 		T 0.700 CausalMutation CLINVAR
dbSNP: rs765965968
rs765965968
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C1279412
Disease:
periodic paralysis (finding) 		T 0.700 CausalMutation CLINVAR
dbSNP: rs797044547
rs797044547
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C0795934
Disease:
Digitorenocerebral Syndrome 		C 0.700 CausalMutation CLINVAR
dbSNP: rs797044549
rs797044549
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C0795934
Disease:
Digitorenocerebral Syndrome 		CA 0.700 CausalMutation CLINVAR
dbSNP: rs878853232
rs878853232
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C2829265
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 86 		T 0.700 CausalMutation CLINVAR
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 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 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: 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: rs483352866
rs483352866
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C3892048
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 65 		0.800 GeneticVariation UNIPROT A dominant mutation in the stereocilia-expressing gene TBC1D24 is a probable cause for nonsyndromic hearing impairment. 24729547 2014
dbSNP: rs267607103
rs267607103
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C0917800
Disease:
Epilepsy, Myoclonic, Infantile 		0.810 GeneticVariation UNIPROT A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24. 20797691 2010
dbSNP: rs267607104
rs267607104
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C0917800
Disease:
Epilepsy, Myoclonic, Infantile 		0.800 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 UNIPROT A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24. 20797691 2010
dbSNP: rs796053403
rs796053403
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR A Novel Homozygous TBC1D24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement. 26207815 2015
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: 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