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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
Nemaline Myopathy (NM)
Alias:
Rod Myopathy
Nemaline Body Disease
Nemaline Rod Myopathy
Myopathies, Nemaline
Myopathy, Nemaline
Rod Body Disease
Nem
Nm
Nemaline Rod Disease
Myopathies Nemaline
Rod-Body Myopathy
Nemaline Bodies
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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
Nemaline Myopathy,又称杆状肌病,与Nemaline Myopathy 8和Nemaline Myopathy 2有关。与Nemaline Myopathy相关的基因是NEB(Nebulin),其相关通路/超级通路包括细胞分化-扩展索引和带状肌收缩通路。在该疾病的背景下提到了D-酪氨酸和沙丁胺醇。附属组织包括骨骼肌和心脏。
Related ID:
MALACARDS:NML001
MESH:D017696
ICD11:1996502540
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
常显
全年龄段
1-9/100000
8
47
49
NML001
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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