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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
Portal Hypertension
Alias:
Hypertension, Portal
Pht - [portal Hypertension]
Hypertension Portal
Portal Htn
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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
门静脉高压症,也称为高血压、门静脉,与门静脉高压症、非肝硬化、2型静脉曲张有关,症状包括体征和症状、消化道。与门静脉高压症相关的重要基因是GIMAP5(GTPase,IMAP家族成员5),其相关通路/超通路包括信号转导和发育、血管紧张素激活ERK。Entecavir和Nadroparin已在该疾病的背景下被提及。附属组织包括肝脏和脾脏,相关表型包括稳态/代谢和生长/大小/身体部位。
Related ID:
MALACARDS:PRT013
MESH:D006975
ICD11:1506184775
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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39
370
1
PRT013
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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