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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
非罕见病
Cerebellar Disease
Alias:
Cerebellar Diseases
Cerebellar Dysfunction
Cerebellar Abnormality
Cerebellar Disorders
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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
小脑疾病,又称小脑功能障碍,与脊髓小脑共济失调1型和脊髓小脑共济失调8型有关,症状包括共济失调、构音障碍和小脑认知情感综合症。与小脑疾病有关的重要基因是AFG3L2(AFG3样矩阵AAA肽酶亚基2),其相关通路/超级通路包括神经科学和蛋白质成熟。干扰素β-1a和免疫因子已在该疾病的背景下被提及。附属组织包括小脑和脊髓,相关表型为shRNA丰度增加(Z-score>2)和对离子辐射的敏感性增加。
Related ID:
MALACARDS:CRB027
MESH:D002526
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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105
1311
5
CRB027
Medical Symptom
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Description
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Orphanet Frequency
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No data available
Gene & Mutation
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No data available
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Name
CAS Number
Status
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No data available
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Category
Name
MGI
Related Gene
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Publications
No data available
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No Data Found!
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