TBC1D24, TBC1 domain family member 24, 57465

N. diseases: 218; N. variants: 39
Disease: DEAFNESS, AUTOSOMAL DOMINANT 65 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3892048
Disease: DEAFNESS, AUTOSOMAL DOMINANT 65
DEAFNESS, AUTOSOMAL DOMINANT 65 		0.700 Biomarker disease GENOMICS_ENGLAND Genetics of hearing loss in the Arab population of Northern Israel. 30139988 2018
CUI: C3892048
Disease: DEAFNESS, AUTOSOMAL DOMINANT 65
DEAFNESS, AUTOSOMAL DOMINANT 65 		0.700 GeneticVariation disease CLINVAR TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus. 28428906 2017
CUI: C3892048
Disease: DEAFNESS, AUTOSOMAL DOMINANT 65
DEAFNESS, AUTOSOMAL DOMINANT 65 		0.700 GeneticVariation disease CLINVAR Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation. 28292732 2017
CUI: C3892048
Disease: DEAFNESS, AUTOSOMAL DOMINANT 65
DEAFNESS, AUTOSOMAL DOMINANT 65 		0.700 CausalMutation disease CLINVAR High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. 29100083 2017
CUI: C3892048
Disease: DEAFNESS, AUTOSOMAL DOMINANT 65
DEAFNESS, AUTOSOMAL DOMINANT 65 		0.700 GeneticVariation disease CLINVAR TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features. 27281533 2016
CUI: C3892048
Disease: DEAFNESS, AUTOSOMAL DOMINANT 65
DEAFNESS, AUTOSOMAL DOMINANT 65 		0.700 CausalMutation disease CLINVAR Electroclinical phenotypes and outcomes in TBC1D24-related epilepsy. 27502353 2016
CUI: C3892048
Disease: DEAFNESS, AUTOSOMAL DOMINANT 65
DEAFNESS, AUTOSOMAL DOMINANT 65 		0.700 GeneticVariation disease CLINVAR Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability. 25769375 2015
CUI: C3892048
Disease: DEAFNESS, AUTOSOMAL DOMINANT 65
DEAFNESS, AUTOSOMAL DOMINANT 65 		0.700 GeneticVariation disease UNIPROT A dominant mutation in the stereocilia-expressing gene TBC1D24 is a probable cause for nonsyndromic hearing impairment. 24729547 2014
CUI: C3892048
Disease: DEAFNESS, AUTOSOMAL DOMINANT 65
DEAFNESS, AUTOSOMAL DOMINANT 65 		0.700 GeneticVariation disease CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220 2014
CUI: C3892048
Disease: DEAFNESS, AUTOSOMAL DOMINANT 65
DEAFNESS, AUTOSOMAL DOMINANT 65 		0.700 GeneticVariation disease UNIPROT TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss. 24729539 2014
CUI: C3892048
Disease: DEAFNESS, AUTOSOMAL DOMINANT 65
DEAFNESS, AUTOSOMAL DOMINANT 65 		0.700 Biomarker disease CTD_human