Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.740 | Biomarker | disease | BEFREE | These findings have important consequences of the work-up and counseling of SCA21/ATX-TMEM240 patients. | 30522958 | 2019 | ||||
|
0.740 | AlteredExpression | disease | BEFREE | We aimed to reveal the molecular pathogenesis of SCA21 using cell and mouse models that overexpressed the wild-type and SCA21 mutant TMEM240. | 30184469 | 2018 | ||||
|
0.740 | GeneticVariation | disease | UNIPROT | Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia. | 29053796 | 2017 | ||||
|
0.740 | GeneticVariation | disease | BEFREE | Recently, mutations in transmembrane protein 240 (TMEM240) were identified as the cause of spinocerebellar ataxia type 21 (SCA21) in several French families. | 26813285 | 2016 | ||||
|
0.740 | GermlineCausalMutation | disease | ORPHANET | TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment. | 25070513 | 2014 | ||||
|
0.740 | GeneticVariation | disease | UNIPROT | TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment. | 25070513 | 2014 | ||||
|
0.740 | GeneticVariation | disease | BEFREE | TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment. | 25070513 | 2014 | ||||
|
0.740 | Biomarker | disease | GENOMICS_ENGLAND | TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment. | 25070513 | 2014 | ||||
|
0.740 | Biomarker | disease | GENOMICS_ENGLAND | Slowly progressive spinocerebellar ataxia with extrapyramidal signs and mild cognitive impairment (SCA21). | 18418688 | 2008 | ||||
|
0.740 | Biomarker | disease | CTD_human | |||||||
|
0.740 | CausalMutation | disease | CLINVAR | |||||||
|
0.740 | GeneticVariation | disease | CLINVAR | |||||||
|
0.100 | CausalMutation | disease | CLINVAR |