Spinocerebellar Ataxia 41 (SCA41)

Alias:
Spinocerebellar Ataxia Type 41
Sca41
Ataxia, Spinocerebellar, Type 41
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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
脊髓小脑性共济失调41型,又称小脑性共济失调41型,与小脑性共济失调41型有关。与脊髓小脑性共济失调41型相关的重要基因是TRPC3(瞬时受体电位阳离子通道家族C成员3)。相关组织包括脊髓和小脑,相关表型为步态共济失调和小脑蚓部萎缩。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
成年期
<1/1000000
1
8
3

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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