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