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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
Myxofibrosarcoma
Alias:
Fibromyxosarcoma
Dermatofibrosarcoma Protuberans, Myxoid
Myxoid Malignant Fibrous Histiocytoma
Fibromyxoid Sarcoma
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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
滑膜肉瘤,又名纤维肉瘤,与皮肤纤维组织细胞瘤和纤维组织细胞瘤有关。与滑膜肉瘤相关的基因是CREB3L2(环磷酸腺苷应答元件结合蛋白3类似2),其相关通路/超级通路包括PI3K-Akt信号通路和间充质干细胞和特异性标记物。在该疾病的背景下提到了环磷酰胺和异环磷酰胺。附属组织包括骨骼肌和骨,相关表型为shRNA丰度增加(Z-score>2)和肿瘤
Related ID:
MALACARDS:MYX013
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
成年期
--
44
712
--
MYX013
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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