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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
非罕见病
Alzheimer Disease Mitochondrial (AD-MT)
Alias:
Alzheimer Disease, Susceptibility to, Mitochondrial
Ad-Mt
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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
阿尔茨海默病线粒体相关性,也称为阿尔茨海默病易感性,线粒体,与严重先天性中性粒细胞减少症1和线粒体DNA相关莱利综合症有关。与阿尔茨海默病线粒体相关性相关的基因是MT-ND1(线粒体编码的NADH:泛醌氧化还原酶核心亚基1),其相关通路/超级通路包括电子呼吸链,化学偶联ATP合成,以及解偶联蛋白介导的热量产生。和复合I生物合成。
Related ID:
MALACARDS:ALZ029
OMIM:502500
MESH:D000544
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
线粒体
未知
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10
ALZ029
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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