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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
Syndromic Microphthalmia
Alias:
Microphthalmia, Syndromic
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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
微小眼症候群,又称为微小眼症候群6和微小眼症候群8,与微小眼症候群、综合征6和微小眼症候群、综合征8有关。与微小眼症候群有关的重要基因是SOX2(SRY-Box Transcription Factor 2),其相关通路/超级通路包括胚层化和中胚层承诺通路。附属组织包括眼睛和垂体,相关表型包括shRNA丰度增加(Z-score > 2)和神经系统。
Related ID:
MALACARDS:SYN165
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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25
303
--
SYN165
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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