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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
Neuromuscular Junction Disease
Alias:
Neuromuscular Junction Diseases
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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
神经肌肉接头病,也称为神经肌肉接头疾病,与重症肌无力和兰伯特-埃滕肌无力综合征有关。与神经肌肉接头病相关的重要基因是DOK7(对接蛋白7),其相关通路/超级通路包括哺乳动物ES细胞多能性中的Nanog和化学突触的传递。在该疾病的背景下提到了异丙酚和七氟醚。附属组织包括胸腺,相关表型是shRNA丰度增加(Z-score>2)和神经系统。
Related ID:
MALACARDS:NRM006
MESH:D020511
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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33
238
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NRM006
Medical Symptom
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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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Gene
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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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