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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
Congenital Heart Defects, Multiple Types, 5 (CHTD5)
Alias:
Chtd5
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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
先天性心脏病,多种类型,5,也被称为 chtd5。与先天性心脏病,多种类型,5 关联的重要基因是 GATA5(GATA 结合蛋白 5)。相关组织包括心脏和乳腺,相关表型为扩张型心肌病和室间隔缺损。
Related ID:
MALACARDS:CNG521
OMIM:617912
MESH:D006330
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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1
8
11
CNG521
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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