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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
Spinal Muscular Atrophy with Lower Extremity Predominant 1
Alias:
Spinal Muscular Atrophy with Lower Extremity Predominance 1
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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
脊髓性肌萎缩伴下肢优势1,也称为脊髓性肌萎缩伴下肢优势1,与脊髓性肌萎缩伴下肢优势和脊髓性肌萎缩,下肢优势1,常染色体显性有关。与脊髓性肌萎缩伴下肢优势1有关的重要基因是DYNC1H1(动力蛋白胞质1重链1)。相关表型为神经系统和生长/大小/身体部位
Related ID:
MALACARDS:SPN463
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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18
309
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SPN463
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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Gene
Function
Score
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
No data available
Disease Model
Category
Name
MGI
Related Gene
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Publications
No data available
References Literature
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IF
No Data Found!
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