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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 (FGS)
Alias:
Glomerulosclerosis, Focal Segmental
Focal Glomerulosclerosis
Focal Segmental Glomerulosclerosis, Not Otherwise Specified
Focal Segmental Glomerulosclerosis, Susceptibility to
Focal and Segmental Glomerulosclerosis
Glomerulosclerosis, Segmental, Focal
Segmental Glomerulosclerosis
Focal Glomerular Sclerosis
Glomerulosclerosis Focal
Fsgs
Fgs
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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
局灶节段性肾小球硬化,也称为肾小球硬化、局灶节段性,与局灶节段性肾小球硬化5和局灶节段性肾小球硬化2有关。与局灶节段性肾小球硬化相关的基因是NPHS2(NPHS2 Stomatin家族成员,Podocin),其相关通路/超通路包括非整合素膜-ECM相互作用和肾病综合征。在该疾病的背景下,已提到的药物有达格列净和血管紧张素II。相关组织包括肾脏和骨髓,相关表型为肾/尿系统和生长/大小/身体部位。
Related ID:
MALACARDS:FCL005
MESH:D005923
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
--
122
1162
9
FCL005
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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