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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 Disease
Alias:
Neuromuscular Diseases
Neuromuscular Disorders
Neuromuscular Disorder
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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
神经肌肉疾病,也被称为神经肌肉障碍,与肌纤维蛋白病和肌病有关,症状包括舞蹈病、背痛和头痛。与神经肌肉疾病相关的重要基因是RYR1(Ryanodine Receptor 1),其相关通路/超级通路包括心脏传导和细胞骨架信号转导。在该疾病的背景下提到了免疫因素和疫苗。附属组织包括骨骼肌和骨髓,相关表型是肌肉和稳态/代谢。
Related ID:
MALACARDS:NRM005
MESH:D009468
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
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206
1936
63
NRM005
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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