TMEM240, transmembrane protein 240, 339453

N. diseases: 40; N. variants: 8
Disease: SPINOCEREBELLAR ATAXIA 21 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1843891
Disease: SPINOCEREBELLAR ATAXIA 21
SPINOCEREBELLAR ATAXIA 21 		0.740 Biomarker disease BEFREE These findings have important consequences of the work-up and counseling of SCA21/ATX-TMEM240 patients. 30522958 2019
CUI: C1843891
Disease: SPINOCEREBELLAR ATAXIA 21
SPINOCEREBELLAR ATAXIA 21 		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
CUI: C1843891
Disease: SPINOCEREBELLAR ATAXIA 21
SPINOCEREBELLAR ATAXIA 21 		0.740 GeneticVariation disease UNIPROT Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia. 29053796 2017
CUI: C1843891
Disease: SPINOCEREBELLAR ATAXIA 21
SPINOCEREBELLAR ATAXIA 21 		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
CUI: C1843891
Disease: SPINOCEREBELLAR ATAXIA 21
SPINOCEREBELLAR ATAXIA 21 		0.740 GermlineCausalMutation disease ORPHANET TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment. 25070513 2014
CUI: C1843891
Disease: SPINOCEREBELLAR ATAXIA 21
SPINOCEREBELLAR ATAXIA 21 		0.740 GeneticVariation disease UNIPROT TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment. 25070513 2014
CUI: C1843891
Disease: SPINOCEREBELLAR ATAXIA 21
SPINOCEREBELLAR ATAXIA 21 		0.740 GeneticVariation disease BEFREE TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment. 25070513 2014
CUI: C1843891
Disease: SPINOCEREBELLAR ATAXIA 21
SPINOCEREBELLAR ATAXIA 21 		0.740 Biomarker disease GENOMICS_ENGLAND TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment. 25070513 2014
CUI: C1843891
Disease: SPINOCEREBELLAR ATAXIA 21
SPINOCEREBELLAR ATAXIA 21 		0.740 Biomarker disease GENOMICS_ENGLAND Slowly progressive spinocerebellar ataxia with extrapyramidal signs and mild cognitive impairment (SCA21). 18418688 2008
CUI: C1843891
Disease: SPINOCEREBELLAR ATAXIA 21
SPINOCEREBELLAR ATAXIA 21 		0.740 Biomarker disease CTD_human
CUI: C1843891
Disease: SPINOCEREBELLAR ATAXIA 21
SPINOCEREBELLAR ATAXIA 21 		0.740 CausalMutation disease CLINVAR
CUI: C1843891
Disease: SPINOCEREBELLAR ATAXIA 21
SPINOCEREBELLAR ATAXIA 21 		0.740 GeneticVariation disease CLINVAR