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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
Cardiomyopathy, Dilated, 1o (CMD1O)
Alias:
Dilated Cardiomyopathy 1o
Cmd1o
Dilated Cardiomyopathy with Ventricular Tachycardia
Cardiomyopathy, Dilated, with Ventricular Tachycardia
Cardiomyopathy, Dilated, Type 1o
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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
扩张型心肌病10型,也称为扩张型心肌病10型,与扩张型心肌病和扩张型心肌病1a有关。扩张型心肌病10型的一个重要基因是ABCC9(ATP结合盒C家族成员9),其相关通路/超级通路包括无机离子/氨基酸/寡肽的运输和化学突触的传递。相关组织包括心脏和皮肤,相关表型为充血性心力衰竭和扩张型心肌病。
Related ID:
MALACARDS:CRD105
OMIM:608569
MESH:D002311
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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11
132
14
CRD105
Medical Symptom
#
Categorization
Description
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Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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Gene
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Mutations
No data available
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Name
CAS Number
Status
Phase
No data available
Disease Model
Category
Name
MGI
Related Gene
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Publications
No data available
References Literature
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No Data Found!
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