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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
Urolithiasis
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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
尿路结石与肾结石、尿酸和肾结石、草酸钙有关。与尿路结石相关的基因之一是APRT(腺苷磷酸核糖转移酶),其相关通路/超级通路包括无机离子/阴离子和氨基酸/寡肽的运输以及胰岛素样生长因子(IGF)通过胰岛素样生长因子结合蛋白(IGFBPs)的运输和摄取的调节。在该疾病的背景下,已提到的药物有硝苯地平和孕酮。附属组织包括肾脏和骨骼,相关表型为稳态/代谢和肾/尿系统。
Related ID:
MALACARDS:URL001
MESH:D052878
ICD11:1746821938
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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27
501
--
URL001
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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