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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
Teeth Hard Tissue Disease
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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
牙齿硬组织疾病与牙本质发育不良和龋齿有关。与牙齿硬组织疾病相关的基因是ESR2(雌激素受体2),其相关通路/超通路包括乳腺癌通路和胰岛素样生长因子(IGF)的运输和摄取的调节由胰岛素样生长因子结合蛋白(IGFBPs)。相关表型是生长/大小/身体部位和稳态/新陈代谢。
Related ID:
MALACARDS:TTH005
ICD11:1948101301
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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53
589
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TTH005
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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