TBC1D24, TBC1 domain family member 24, 57465

N. diseases: 218; N. variants: 39
Disease: Epilepsy, Myoclonic, Infantile ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0917800
Disease: Epilepsy, Myoclonic, Infantile
Epilepsy, Myoclonic, Infantile 		0.760 GeneticVariation disease CLINVAR Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation. 28292732 2017
CUI: C0917800
Disease: Epilepsy, Myoclonic, Infantile
Epilepsy, Myoclonic, Infantile 		0.760 GeneticVariation disease BEFREE Mutations in the TBC1D24 gene (MIM 613577) cause familial infantile myoclonic epilepsy (FIME; 605021) and early infantile epileptic encephalopathy-16 (EIEE16; 615338), both inherited with an autosomal recessive trait. 28292732 2017
CUI: C0917800
Disease: Epilepsy, Myoclonic, Infantile
Epilepsy, Myoclonic, Infantile 		0.760 GeneticVariation disease CLINVAR TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus. 28428906 2017
CUI: C0917800
Disease: Epilepsy, Myoclonic, Infantile
Epilepsy, Myoclonic, Infantile 		0.760 GeneticVariation disease CLINVAR Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability. 25769375 2015
CUI: C0917800
Disease: Epilepsy, Myoclonic, Infantile
Epilepsy, Myoclonic, Infantile 		0.760 GeneticVariation disease BEFREE Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability. 25769375 2015
CUI: C0917800
Disease: Epilepsy, Myoclonic, Infantile
Epilepsy, Myoclonic, Infantile 		0.760 Biomarker disease GENOMICS_ENGLAND The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220 2014
CUI: C0917800
Disease: Epilepsy, Myoclonic, Infantile
Epilepsy, Myoclonic, Infantile 		0.760 Biomarker disease BEFREE TBC1D24 loss of function has been associated to idiopathic infantile myoclonic epilepsy, as well as to drug-resistant early-onset epilepsy with intellectual disability. 23526554 2013
CUI: C0917800
Disease: Epilepsy, Myoclonic, Infantile
Epilepsy, Myoclonic, Infantile 		0.760 GeneticVariation disease BEFREE Recessive TBC1D24 gene mutations have been described in two families: an Italian family afflicted with familial infantile myoclonic epilepsy, and an Arab family with focal epilepsy and intellectual disability syndrome. 23343562 2013
CUI: C0917800
Disease: Epilepsy, Myoclonic, Infantile
Epilepsy, Myoclonic, Infantile 		0.760 GeneticVariation disease BEFREE The disorder is allelic with familial infantile myoclonic epilepsy, where intellect and neurologic examination are normal, highlighting the phenotypic variation with mutations of TBC1D24. 23517570 2013
CUI: C0917800
Disease: Epilepsy, Myoclonic, Infantile
Epilepsy, Myoclonic, Infantile 		0.760 AlteredExpression disease BEFREE TBC1D24 overexpression resulted in a significant increase in neurite length and arborization and the FIME mutations significantly reverted this phenotype. 20727515 2010
CUI: C0917800
Disease: Epilepsy, Myoclonic, Infantile
Epilepsy, Myoclonic, Infantile 		0.760 GeneticVariation disease UNIPROT A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24. 20797691 2010
CUI: C0917800
Disease: Epilepsy, Myoclonic, Infantile
Epilepsy, Myoclonic, Infantile 		0.760 GermlineCausalMutation disease ORPHANET TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy. 20727515 2010
CUI: C0917800
Disease: Epilepsy, Myoclonic, Infantile
Epilepsy, Myoclonic, Infantile 		0.760 GeneticVariation disease UNIPROT TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy. 20727515 2010
CUI: C0917800
Disease: Epilepsy, Myoclonic, Infantile
Epilepsy, Myoclonic, Infantile 		0.760 Biomarker disease GENOMICS_ENGLAND TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy. 20727515 2010
CUI: C0917800
Disease: Epilepsy, Myoclonic, Infantile
Epilepsy, Myoclonic, Infantile 		0.760 CausalMutation disease CLINVAR
CUI: C0917800
Disease: Epilepsy, Myoclonic, Infantile
Epilepsy, Myoclonic, Infantile 		0.760 Biomarker disease CTD_human