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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
Ventricular Septal Defect
Alias:
Ventricular Septal Defects
Interventricular Septal Defect
Congenital Ventricular Septal Defect
Heart Septal Defects, Ventricular
Vsd - [ventricular Septum Defect]
Single Ventricular Septal Defect
Ventricular Septal Abnormality
Interventricular Septum Defect
Septal, Ventricular Defect
Ventricular Septum Defect
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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
室间隔缺损,也称为室间隔缺损,与法洛四联症和右心室双出口有关。与室间隔缺损有关的重要基因是FOXP4(叉头盒P4),其相关通路/超级通路包括神经系统发育和人胚胎干细胞多能性。在该疾病的背景下提到了药物沙丁胺醇和罗哌卡因。附属组织包括心脏和肺,相关表型是shRNA丰度增加(Z-score>2)和肌肉。
Related ID:
MALACARDS:VNT002
MESH:D006345
ICD11:668140715
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
--
75
879
1
VNT002
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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