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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, 1d (CMD1D)
Alias:
Dilated Cardiomyopathy 1d
Cmd1d
Cardiomyopathy, Dilated, Type 1d ; Ventricular Noncompaction, Left, Type 6
Left Ventricular Noncompaction 6, Included
Left Ventricular Noncompaction 6
Lvnc6, Included
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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1d,也称为扩张型心肌病1d,与扩张型心肌病1a和气性坏疽有关。扩张型心肌病1d相关的重要基因是TNNT2(心肌型肌钙蛋白T),其相关通路/超级通路包括传染病和糖基化疾病。相关组织包括心脏和大脑,相关表型为左心室肥大和左心室非对称性肥厚。
Related ID:
MALACARDS:CRD097
OMIM:601494
MESH:D002311
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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9
65
145
CRD097
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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Gene
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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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No Data Found!
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