Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
0.800 Biomarker disease MGD The phenotypic landscape of a Tbc1d24 mutant mouse includes convulsive seizures resembling human early infantile epileptic encephalopathy. 30602030 2019
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
0.800 GeneticVariation disease CLINVAR TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus. 28428906 2017
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
0.800 GeneticVariation disease CLINVAR Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation. 28292732 2017
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
0.800 GeneticVariation disease UNIPROT Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations. 27541164 2016
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
0.800 GeneticVariation disease CLINVAR Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability. 25769375 2015
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
0.800 GeneticVariation disease UNIPROT Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy. 23526554 2013
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
0.800 Biomarker disease GENOMICS_ENGLAND TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy. 20727515 2010
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
0.800 CausalMutation disease CLINVAR