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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
Congenitally Uncorrected Transposition of the Great Arteries with Cardiac Malformation
Alias:
Congenitally Uncorrected Transposition of the Great Vessels with Cardiac Malformation
Tga with Cardiac Malformation
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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
先天性大动脉转位合并心脏畸形,也称为先天性未纠正的大血管转位合并心脏畸形。与先天性大动脉转位合并心脏畸形有关的重要基因是CFC1(隐性,EGF-CFC家族成员1)。
Related ID:
MALACARDS:CNG259
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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新生儿
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1
4
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CNG259
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
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Journal
Year
IF
No Data Found!
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