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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
Focal Segmental Glomerulosclerosis 8 (FSGS8)
Alias:
Fsgs8
Glomerulosclerosis, Focal Segmental, Type 8
Glomerulosclerosis, Focal Segmental, 8
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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
FSGS8,也称为fsgs8,与FSGS7和FSGS2有关。与FSGS8有关的重要基因是ANLN(Anillin,Actin Binding Protein),其相关通路/超级通路包括粘附斑和原发性局灶性节段性肾小球硬化(FSGS)。附属组织包括肾脏,相关表型为蛋白尿和慢性肾病5期。
Related ID:
MALACARDS:FCL053
OMIM:616032
MESH:D005923
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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6
34
1
FCL053
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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Gene
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Mutations
No data available
Related Drugs
Name
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Status
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No data available
Disease Model
Category
Name
MGI
Related Gene
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Publications
No data available
References Literature
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IF
No Data Found!
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