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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
Charcot-Marie-Tooth Disease Type X
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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
Charcot-Marie-Tooth病型X与遗传性感觉神经病和牙齿疾病有关。与Charcot-Marie-Tooth病型X有关的重要基因是GJB1(间隙连接蛋白β1),其相关通路/超通路包括EGR2和SOX10介导的Schwann细胞髓鞘化以及戊糖磷酸途径。相关表型为神经系统和行为/神经病学。
Related ID:
MALACARDS:CHR026
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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21
146
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CHR026
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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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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