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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
Lens Subluxation
Alias:
Subluxation of Lens
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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
晶状体半脱位,又称晶状体半脱位,与近视、高、白内障和视网膜病变以及孤立的晶状体脱位有关。与晶状体半脱位有关的重要基因是FBN1(胶原蛋白1),其相关通路/超级通路包括糖基化疾病和粘蛋白的O-连接糖基化。在该疾病的背景下提到了药物咪达唑仑和芬太尼。相关组织包括眼睛和内皮,相关表型包括颅面和呼吸系统。
Related ID:
MALACARDS:LNS001
MESH:D007906
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
206
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LNS001
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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