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: rs267607103
rs267607103
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C0917800
Disease:
Epilepsy, Myoclonic, Infantile 		0.810 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: rs267607103
rs267607103
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C0917800
Disease:
Epilepsy, Myoclonic, Infantile 		0.810 GeneticVariation UNIPROT TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy. 20727515 2010
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: rs267607103
rs267607103
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C0917800
Disease:
Epilepsy, Myoclonic, Infantile 		C 0.810 CausalMutation CLINVAR
dbSNP: rs397514713
rs397514713
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C3809173
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16 		0.800 GeneticVariation UNIPROT Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations. 27541164 2016
dbSNP: rs201257588
rs201257588
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C0795934
Disease:
Digitorenocerebral Syndrome 		0.800 GeneticVariation UNIPROT The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220 2014
dbSNP: rs201257588
rs201257588
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C0795934
Disease:
Digitorenocerebral Syndrome 		G 0.800 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651 2014
dbSNP: rs201257588
rs201257588
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C0795934
Disease:
Digitorenocerebral Syndrome 		G 0.800 CausalMutation CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220 2014
dbSNP: rs398122965
rs398122965
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C0795934
Disease:
Digitorenocerebral Syndrome 		0.800 GeneticVariation UNIPROT The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220 2014
dbSNP: rs398122965
rs398122965
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C0795934
Disease:
Digitorenocerebral Syndrome 		T 0.800 CausalMutation CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220 2014
dbSNP: rs398122965
rs398122965
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C0795934
Disease:
Digitorenocerebral Syndrome 		T 0.800 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651 2014
dbSNP: rs398122966
rs398122966
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C0795934
Disease:
Digitorenocerebral Syndrome 		T 0.800 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651 2014
dbSNP: rs398122966
rs398122966
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C0795934
Disease:
Digitorenocerebral Syndrome 		0.800 GeneticVariation UNIPROT The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220 2014
dbSNP: rs398122966
rs398122966
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C0795934
Disease:
Digitorenocerebral Syndrome 		T 0.800 CausalMutation CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220 2014
dbSNP: rs483352866
rs483352866
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C3892048
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 65 		0.800 GeneticVariation UNIPROT TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss. 24729539 2014
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: rs587777147
rs587777147
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C2829265
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 86 		T 0.800 CausalMutation CLINVAR Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86. 24387994 2014
dbSNP: rs587777147
rs587777147
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C2829265
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 86 		0.800 GeneticVariation UNIPROT Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86. 24387994 2014
dbSNP: rs747821285
rs747821285
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C0795934
Disease:
Digitorenocerebral Syndrome 		A 0.800 CausalMutation CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220 2014
dbSNP: rs747821285
rs747821285
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C0795934
Disease:
Digitorenocerebral Syndrome 		A 0.800 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651 2014
dbSNP: rs747821285
rs747821285
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C0795934
Disease:
Digitorenocerebral Syndrome 		0.800 GeneticVariation UNIPROT The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220 2014
dbSNP: rs397514713
rs397514713
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C3809173
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16 		0.800 GeneticVariation UNIPROT Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy. 23526554 2013
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: rs267607104
rs267607104
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C0917800
Disease:
Epilepsy, Myoclonic, Infantile 		0.800 GeneticVariation UNIPROT TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy. 20727515 2010
dbSNP: rs267607104
rs267607104
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C0917800
Disease:
Epilepsy, Myoclonic, Infantile 		C 0.800 CausalMutation CLINVAR