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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
Thyrotoxic Exophthalmos
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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
甲状腺毒性突眼与中耳腺癌和骨纤维化有关。与甲状腺毒性突眼有关的重要基因是BGLAP(骨γ-羧基谷氨酸蛋白),其相关通路/超通路包括细胞对刺激的反应和由NFE2L2介导的核事件。相关组织包括甲状腺和眼睛,相关表型包括内分泌/外分泌腺和免疫系统。
Related ID:
MALACARDS:THY013
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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14
115
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THY013
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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