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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
Astigmatism
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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
散光与不规则散光和艾兰岛眼病有关,症状包括视力模糊和大小不等视。与散光有关的重要基因是SCLT1(钠通道和网格蛋白连接蛋白1)。在该疾病的背景下提到了普鲁卡因和二甲基肾上腺素。附属组织包括眼睛和视网膜。
Related ID:
MALACARDS:AST006
OMIM:603047
MESH:D001251
ICD11:402558626
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
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66
510
4
AST006
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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