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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
Generalized Isolated Dystonia
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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
泛发性孤立性肌张力障碍与常染色体隐性遗传的脊髓性肌萎缩症35型有关,伴有或不伴有神经退行性病变和遗传性脊髓性肌萎缩症35型。泛发性孤立性肌张力障碍的一个重要相关基因是KMT2B(精氨酸甲基转移酶2B)。相关组织包括大脑。
Related ID:
MALACARDS:GNR048
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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1
8
1
GNR048
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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