Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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T | 0.700 | CausalMutation | CLINVAR | Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation. | 28292732 | 2017 |
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T | 0.700 | CausalMutation | CLINVAR | TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus. | 28428906 | 2017 |
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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 |
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T | 0.700 | CausalMutation | CLINVAR | Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations. | 27541164 | 2016 |
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T | 0.700 | CausalMutation | CLINVAR | TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features. | 27281533 | 2016 |
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T | 0.700 | CausalMutation | CLINVAR | Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability. | 25769375 | 2015 |
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T | 0.700 | CausalMutation | CLINVAR | A Novel Homozygous TBC1D24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement. | 26207815 | 2015 |
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T | 0.700 | CausalMutation | CLINVAR | DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. | 25169651 | 2014 |
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T | 0.700 | CausalMutation | CLINVAR | Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86. | 24387994 | 2014 |
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T | 0.700 | CausalMutation | CLINVAR | The genetic basis of DOORS syndrome: an exome-sequencing study. | 24291220 | 2014 |
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T | 0.700 | CausalMutation | CLINVAR | TBC1D24 regulates neuronal migration and maturation through modulation of the ARF6-dependent pathway. | 24469796 | 2014 |