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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
Hyperthyroidism
Alias:
Overactive Thyroid
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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
甲状腺功能亢进症,也被称为甲状腺功能亢进,与格雷夫斯病1和格雷夫斯病有关。与甲状腺功能亢进症相关的重要基因是TSHR(甲状腺刺激激素受体),其相关通路/超通路包括肽激素代谢和间充质干细胞和特异性标记物。在该疾病的背景下提到了药物卡比马唑和碳酸锂。附属组织包括甲状腺和心脏,相关表型为增加HPV16-GFP感染和稳态/代谢。
Related ID:
MALACARDS:HYP076
MESH:D006980
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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41
431
3
HYP076
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
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Year
IF
No Data Found!
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