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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
罕见病
Spinocerebellar Ataxia Type 19/22
Alias:
Sca19/22
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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
脊髓小脑变性症19/22,也称为sca19/22,与铜蓝蛋白缺乏症和常染色体显性小脑变性有关,症状包括小脑共济失调、运动共济失调、躯干共济失调和步态共济失调。与脊髓小脑变性症19/22有关的重要基因是KCND3(钾电压门控通道亚家族D成员3),其相关通路/超级通路包括化学突触传递和心脏传导。相关组织包括大脑,相关表型包括共济失调和行走困难。
Related ID:
MALACARDS:SPN247
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
成年期
<1/1000000
6
53
9
SPN247
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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