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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
罕见病
Liposarcoma
Alias:
Lipomatous Cancer
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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
脂肪肉瘤,也称为脂肪瘤性癌症,与黏液样脂肪肉瘤和肾脂肪肉瘤有关。与脂肪肉瘤相关的重要基因是FUS(FUS RNA结合蛋白),其相关通路/超通路包括细胞对刺激的反应和子宫内膜癌。在该疾病的背景下提到了达卡巴嗪和美克洛瑞替尼。附属组织包括乳腺和T细胞,相关表型为皮下结节和肉瘤。
Related ID:
MALACARDS:LPS002
MESH:D008080
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
全年龄段
1-9/1000000
45
832
--
LPS002
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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