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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
Progressive Relapsing Multiple Sclerosis (PRMS)
Alias:
Multiple Sclerosis, Progressive Relapsing
Progressive-Relapsing Ms
Prms
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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
进行性复发性多发性硬化症,也称为多发性硬化症、进行性复发性,与脊髓疾病和横纹肌肉瘤有关。与进行性复发性多发性硬化症相关的重要基因是IFNB1(干扰素β1),其相关通路/超级通路包括神经嵴分化和SARS-CoV-2信号通路网络图。在该疾病的背景下提到了睾酮和雄激素。附属组织包括小肠和脊髓,相关表型为增加的存活率和正常。
Related ID:
MALACARDS:PRG090
MESH:D020528
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
235
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PRG090
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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