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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
Vestibular Nystagmus
Alias:
Nystagmus Associated with Disorder of the Vestibular System
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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
前庭性眼震,又称前庭系统相关眼震,与前庭神经炎和病理性眼震有关,症状包括平滑追踪运动的缺陷。与前庭性眼震相关的重要基因是CLCN2(氯离子电压门控通道2),其相关通路/超级通路包括转录P53信号通路。相关组织包括眼睛和大脑皮层,相关表型包括内分泌/外分泌腺和免疫系统。
Related ID:
MALACARDS:VST003
ICD11:71054868
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
--
10
101
--
VST003
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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