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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
Ebstein Anomaly
Alias:
Ebstein's Anomaly
Ebstein's Anomaly of Common Atrioventricular Valve
Ebstein's Anomaly of Right Atrioventricular Valve
Ebstein's Anomaly of Tricuspid Valve
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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
Ebstein Anomaly, 也被称为Ebstein畸形,与三尖瓣Ebstein畸形和扩张型心肌病1e有关。与Ebstein Anomaly相关的基因是CDK8(细胞周期依赖性激酶8),其相关通路/超级通路包括心脏传导和细胞骨架重塑,Rho GTPases调节肌动蛋白细胞骨架。相关组织包括心脏和骨髓,相关表型包括猝死和房间隔缺损。
Related ID:
MALACARDS:EBS001
OMIM:224700
MESH:D004437
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
常显
全年龄段
--
19
213
9
EBS001
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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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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