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: 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: rs1057524191
rs1057524191
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C3463992
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1057524191
rs1057524191
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C3892048
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 65 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1057524191
rs1057524191
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 CausalMutation CLINVAR
dbSNP: rs1335526524
rs1335526524
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C0751785
Disease:
Unverricht-Lundborg Syndrome 		0.010 GeneticVariation BEFREE Remarkably, a recurrent de novo mutation, c.959G>A (p.Arg320His), in KCNC1 was identified as a new major cause for PME. 25401298 2015
dbSNP: rs1555501140
rs1555501140
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C3892048
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 65 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1555501140
rs1555501140
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C3463992
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1555501140
rs1555501140
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
dbSNP: rs1555501320
rs1555501320
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C3892048
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 65 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1567411469
rs1567411469
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C3892048
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 65 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1567411469
rs1567411469
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C2829265
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 86 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1567413218
rs1567413218
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
dbSNP: rs1567413218
rs1567413218
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C3892048
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 65 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1567413218
rs1567413218
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C3463992
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		G 0.700 CausalMutation CLINVAR
dbSNP: rs199700840
rs199700840
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C2829265
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 86 		C 0.700 CausalMutation CLINVAR Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86. 24387994 2014
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: 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: C4021085
Disease:
Abnormality of brain morphology 		G 0.700 CausalMutation CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220 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: C0853087
Disease:
Nail abnormality 		G 0.700 CausalMutation CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220 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