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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
Paraneoplastic Syndromes
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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
副肿瘤综合症与骨软化症和胸腺瘤有关,症状包括副肿瘤性眼震性共济失调。与副肿瘤综合症有关的重要基因是RCVRN(恢复蛋白),其相关通路/超级通路包括PI3K-Akt信号通路和胸膜间皮瘤。在该疾病的背景下提到了Denosumab和二磷酸盐药物。附属组织包括T细胞和肺,相关表型是肾/尿系统。
Related ID:
MALACARDS:PRN039
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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5
43
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PRN039
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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