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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
Chondrosarcoma, Extraskeletal Myxoid (EMC)
Alias:
Extraskeletal Myxoid Chondrosarcoma
Extraosseous Chondrosarcoma
Myxoid Extraosseous Chondrosarcoma
Emc
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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
软骨肉瘤,非骨性黏液样,又称非骨性黏液样软骨肉瘤,与非骨性间充质软骨肉瘤和软骨瘤有关。与软骨肉瘤,非骨性黏液样相关的基因是NR4A3(核受体亚家族4组A成员3),其相关通路/超级通路包括染色质调节/乙酰化。在该疾病的背景下,已经提到了药物环磷酰胺和异环磷酰胺。附属组织包括骨和皮肤,相关表型为软骨肉瘤和shRNA丰度增加(Z分数> 2)。
Related ID:
MALACARDS:CHN056
OMIM:612237
MESH:C563195
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
成年期
--
42
491
11
CHN056
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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