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 |
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 |
SPINOCEREBELLAR ATAXIA 21
|
0.740 |
GeneticVariation
|
disease |
UNIPROT |
Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia.
|
29053796 |
2017 |
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 |
SPINOCEREBELLAR ATAXIA 21
|
0.740 |
GermlineCausalMutation
|
disease |
ORPHANET |
TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment.
|
25070513 |
2014 |
SPINOCEREBELLAR ATAXIA 21
|
0.740 |
GeneticVariation
|
disease |
UNIPROT |
TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment.
|
25070513 |
2014 |
SPINOCEREBELLAR ATAXIA 21
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment.
|
25070513 |
2014 |
SPINOCEREBELLAR ATAXIA 21
|
0.740 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment.
|
25070513 |
2014 |
SPINOCEREBELLAR ATAXIA 21
|
0.740 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Slowly progressive spinocerebellar ataxia with extrapyramidal signs and mild cognitive impairment (SCA21).
|
18418688 |
2008 |
SPINOCEREBELLAR ATAXIA 21
|
0.740 |
Biomarker
|
disease |
CTD_human |
|
|
|
SPINOCEREBELLAR ATAXIA 21
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
SPINOCEREBELLAR ATAXIA 21
|
0.740 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Impaired cognition
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment.
|
25070513 |
2014 |
Intellectual Disability
|
0.110 |
GeneticVariation
|
group |
BEFREE |
TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment.
|
25070513 |
2014 |
Impaired cognition
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
Intellectual Disability
|
0.110 |
Biomarker
|
group |
HPO |
|
|
|
Aggressive behavior
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Diplopia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Dysarthria
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Impulsive Behavior
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Muscle Rigidity
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Nystagmus
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Tremor
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Akinesia
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Apathy
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|