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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
Thyroid Hormone Metabolism, Abnormal, 3 (THMA3)
Alias:
Thma3
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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
甲状腺激素代谢异常3,也称为THMA3。与甲状腺激素代谢异常3相关的基因是TRU-TCA1-1(TRNA-SeC(反密码子TCA)1-1)。相关组织包括甲状腺,相关表型为肌肉无力和易疲劳。
Related ID:
MALACARDS:THY132
OMIM:620198
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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2
THY132
Medical Symptom
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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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Gene
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Score
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
No data available
Disease Model
Category
Name
MGI
Related Gene
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Publications
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References Literature
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IF
No Data Found!
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