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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
Anterior Horn Cell Disease
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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
前角细胞病与桥脑小脑发育不良1e型和关节挛缩综合征有关。与前角细胞病有关的重要基因是GLE1(GLE1 RNA出口调解因子),其相关通路/超通路包括传染病和SLBP独立成熟mRNA的运输。附属组织包括桥脑和小脑,相关表型包括生存能力下降和p24蛋白表达下降。
Related ID:
MALACARDS:ANT007
MESH:D016472
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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19
82
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ANT007
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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