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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
Dystonia 30 (DYT30)
Alias:
Dyt30
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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
肌张力障碍30,也称为dyt30,与肌张力障碍12和肌张力障碍有关。与肌张力障碍30有关的重要基因是VPS16(CORVET和HOPS复合物的VPS16核心亚基)。附属组织包括苍白球和大脑,相关表型为肌张力障碍和斜颈
Related ID:
MALACARDS:DYS212
OMIM:619291
MESH:D004421
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
--
2
9
4
DYS212
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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