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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
Lymphoplasmacyte-Rich Meningioma
Alias:
Lymphoplasmocyte-Rich Meningioma
Meningioma
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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
淋巴浆细胞丰富脑膜瘤,也称为淋巴浆细胞丰富脑膜瘤,与脑膜瘤、家族性和快速退化的先天性血管瘤有关。与淋巴浆细胞丰富脑膜瘤相关的重要基因是MIB1(MIB E3泛素蛋白酶1),其相关通路/超级通路包括造血干细胞和特异性标记物。在该疾病的背景下提到了Thrombin和Prilocaine这两种药物。附属组织包括大脑和脊髓,相关表型是皮肤。
Related ID:
MALACARDS:LYM002
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
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6
44
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LYM002
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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