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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
Young-Onset Parkinson Disease (YOPD)
Alias:
Early-Onset Parkinson Disease
Yopd
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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
青年型帕金森病,又称早发型帕金森病,与帕金森病23、常染色体隐性早发型和帕金森病6、常染色体隐性早发型有关。与青年型帕金森病有关的重要基因是PRKN(Parkin RBR E3 Ubiquitin Protein Ligase),其相关通路/超级通路包括神经科学和帕金森病通路。在该疾病的背景下提到了乳酸杆菌。附属组织包括丘脑底核和大脑,相关表型为僵硬和抑郁。
Related ID:
MALACARDS:YNG006
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
1-5/10000
12
147
25
YNG006
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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