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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
Sarcoma, Synovial
Alias:
Synovial Sarcoma
Synovialosarcoma
Sarcoma Synovial
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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,也称为滑膜肉瘤,与单相滑膜肉瘤和梭形细胞滑膜肉瘤有关。与滑膜肉瘤相关的基因是SSX2(SSX家族成员2),其相关通路/超级通路包括子宫内膜癌和COPI独立的高尔基体至内质网逆行交通。在该疾病的背景下提到了Ifosfamide和Doxorubicin这两种药物。附属组织包括肺和T细胞,相关表型为滑膜肉瘤和shRNA丰度增加(Z-score>2)。
Related ID:
MALACARDS:SRC027
OMIM:300813
MESH:D013584
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
全年龄段
--
65
735
12
SRC027
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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