TBC1D24, TBC1 domain family member 24, 57465

N. diseases: 218; N. variants: 39
Disease: Intellectual Disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.190 GeneticVariation group BEFREE Epilepsy, deafness, onychodystrophy, osteodystrophy and intellectual disability are associated with a spectrum of mutations of human TBC1D24. 30602030 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.190 GeneticVariation group BEFREE Bi-allelic TBC1D24 pathogenic variants are known to cause nonsyndromic deafness, epileptic disorders, or DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation, seizures). 30245510 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.190 GeneticVariation group BEFREE Mutations in the Tre2/Bub2/Cdc16 (TBC)1 domain family member 24 (TBC1D24) gene are associated with a range of inherited neurological disorders, from drug-refractory lethal epileptic encephalopathy and DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation, seizures) to non-syndromic hearing loss. 30335140 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.190 GeneticVariation group BEFREE Mutations in TBC1D24 are described in patients with a spectrum of neurological diseases, including mild and severe epilepsies and complex syndromic phenotypes such as Deafness, Onycodystrophy, Osteodystrophy, Mental Retardation and Seizure (DOORS) syndrome. 30858606 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.190 GeneticVariation group BEFREE Mutations in another BAF complex gene (SMARCA2) and (TBC1D24) were found to cause clinically similar conditions with ID, Nicolaides-Baraitser syndrome and DOORS syndrome, respectively. 25169878 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.190 Biomarker group BEFREE In this paper, we study Drosophila melanogaster lacking active TBC1D24/Skywalker (Sky), a protein that in humans causes severe neurodegeneration, epilepsy, and DOOR (deafness, onychdystrophy, osteodystrophy, and mental retardation) syndrome, and identify endosome-to-lysosome trafficking as a mechanism for degradation of synaptic vesicle-associated proteins. 25422373 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.190 GeneticVariation group 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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.190 GeneticVariation group 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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.190 GeneticVariation group BEFREE A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24. 20797691 2010
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.190 Biomarker group HPO