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: 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: 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: 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: rs770820144
rs770820144
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C3809173
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16 		0.700 GeneticVariation UNIPROT Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations. 27541164 2016
dbSNP: rs796053403
rs796053403
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations. 27541164 2016
dbSNP: rs863223337
rs863223337
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C3809173
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16 		0.700 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 		G 0.800 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651 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: 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: rs201257588
rs201257588
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C0241397
Disease:
Triphalangeal thumb 		G 0.700 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: C1843367
Disease:
Poor school performance 		G 0.700 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: C4021085
Disease:
Abnormality of brain morphology 		G 0.700 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: C0036572
Disease:
Seizures 		G 0.700 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: C0452138
Disease:
Sensorineural hearing loss, bilateral 		G 0.700 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: C0235942
Disease:
Abnormality of the skull 		G 0.700 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: C0853087
Disease:
Nail abnormality 		G 0.700 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: C3550704
Disease:
Abnormality of digit 		G 0.700 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651 2014
dbSNP: rs398122965
rs398122965
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C3550704
Disease:
Abnormality of digit 		T 0.700 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651 2014
dbSNP: rs398122965
rs398122965
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C0853087
Disease:
Nail abnormality 		T 0.700 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651 2014
dbSNP: rs398122965
rs398122965
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C1843367
Disease:
Poor school performance 		T 0.700 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651 2014
dbSNP: rs398122965
rs398122965
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C0036572
Disease:
Seizures 		T 0.700 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651 2014
dbSNP: rs398122965
rs398122965
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C0235942
Disease:
Abnormality of the skull 		T 0.700 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651 2014
dbSNP: rs398122965
rs398122965
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C0241397
Disease:
Triphalangeal thumb 		T 0.700 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651 2014