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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
Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form
Alias:
Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Right Dominant Form
Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Classic Form
Familial Isolated Arrhythmogenic Ventricular Dysplasia, Classic Form
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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
家族性孤立性心肌病,右优势型,也称为家族性孤立性心肌病,右优势型,与致命性棘状剥脱性侵蚀性障碍和良性慢性天疱疮有关。家族性孤立性心肌病,右优势型相关的重要基因是CDH2(钙粘蛋白2),其相关通路/超级通路包括Sertoli-Sertoli细胞连接动力学和角化。相关组织包括心脏,相关表型为肌肉和生长/大小/身体区域
Related ID:
MALACARDS:FML213
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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13
190
--
FML213
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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