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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
Parkinson Disease 11, Autosomal Dominant (PARK11)
Alias:
Parkinson Disease 11, Autosomal Dominant, Susceptibility to
Parkinson Disease 11
Park11
Parkinson Disease, Type 11
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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
帕金森病11,常染色体显性,也称为帕金森病11,与晚发性帕金森病有关。与帕金森病11,常染色体显性有关的重要基因是GIGYF2(GRB10相互作用GYF蛋白2)。相关组织包括大脑,相关表型为僵硬和姿势不稳。
Related ID:
MALACARDS:PRK094
OMIM:607688
MESH:D010300
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
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1
5
11
PRK094
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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