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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
Pseudohypoaldosteronism
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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
伪低醛固酮症与伪低醛固酮症、类型ii和伪低醛固酮症类型1有关。与伪低醛固酮症相关的基因是NR3C2(核受体亚家族3组C成员2),其相关通路/超级通路包括无机离子/氨基酸/寡肽的运输和背根神经节神经元的神经痛信号传导。在该疾病的背景下,已经提到了Enalapril和Enalaprilat这两种药物。相关组织包括肾脏和肝脏,相关表型包括稳态/代谢和肾/尿系统。
Related ID:
MALACARDS:PSD003
MESH:D011546
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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29
270
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PSD003
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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