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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
Villonodular Synovitis
Alias:
Pigmented Villonodular Synovitis
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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
维纶诺多瘤性滑膜炎,又称色素性维纶诺多瘤性滑膜炎,与腱滑膜巨细胞瘤和色素性维纶诺多瘤性滑膜炎有关,症状包括疼痛、关节痛和其他关节相关的症状。与维纶诺多瘤性滑膜炎有关的重要基因是SOS1(SOS Ras/Rac鸟苷酸交换因子1),其相关通路/超级通路包括先天免疫系统和免疫反应IL-23信号通路。在该疾病的背景下,已提到的药物有抗体和免疫球蛋白。附属组织包括骨和肺,相关表型为shRNA丰度增加(Z-score>2)和肌肉。
Related ID:
MALACARDS:VLL003
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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8
75
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VLL003
Medical Symptom
#
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
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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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