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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
Kashin-Beck Disease
Alias:
Kaschin-Beck Disease, Unspecified Site
Kaschin-Beck Disease
Kashin-Bek Disease
Urov 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
卡斯金-贝克病,又称卡斯金-贝克病,未特指部位,与骨关节炎和软骨病有关。与卡斯金-贝克病相关的重要基因是DIO2(碘甲状腺素脱碘酶2),其相关通路/超级通路包括NFE2L2介导的核事件和TNF超家族-人类配体-受体相互作用及其相关功能。在该疾病的背景下提到了硒酸和保护剂。附属组织包括骨和结肠,相关表型为稳态/代谢和神经系统。
Related ID:
MALACARDS:KSH004
ICD11:211396970
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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9
118
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KSH004
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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