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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
Respiratory System Benign Neoplasm
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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
呼吸系统良性肿瘤与胸膜脂肪瘤和气管平滑肌瘤有关。与呼吸系统良性肿瘤相关的重要基因是MIR30C1(微小RNA 30c-1),其相关通路/超通路包括传染病和ERK信号通路。相关表型包括活力降低和与MLN4924(一种NAE抑制剂)的合成致死。
Related ID:
MALACARDS:RSP004
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
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32
603
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RSP004
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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