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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
Epithelial-Stromal Tgfbi Dystrophy
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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
上皮-基质Tgfbi dystrophy与角膜 dystrophy, Reis-Bucklers型和角膜 dystrophy, Thiel-Behnke型有关。与上皮-基质Tgfbi dystrophy有关的重要基因是TGFBI(转化生长因子β诱导)。相关表型是增加SMN2外显子7的包含和死亡/老化。
Related ID:
MALACARDS:EPT024
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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34
298
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EPT024
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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