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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
Diffuse Mesangial Sclerosis
Alias:
Mesangial Sclerosis, Diffuse
Familial Mesangial Sclerosis
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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
弥漫性系膜硬化症,又称为系膜硬化症,弥漫性,与肾病综合征、类型4和denys-drash综合征有关。与弥漫性系膜硬化症相关的基因是WT1(WT1转录因子),其相关通路/超级通路包括ERK信号通路和信号转导通路。附属组织包括肾脏和眼睛,相关表型包括hepcidin::fluc mRNA表达增加和肾/尿系统。
Related ID:
MALACARDS:DFF021
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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15
124
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DFF021
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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