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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
Embryonal Rhabdomyosarcoma
Alias:
Rhabdomyosarcoma, Embryonal
Rhabdomyosarcoma Embryonal
Botryoid Rhabdomyosarcoma
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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
胚胎性横纹肌肉瘤,也称为胚胎性横纹肌肉瘤,与葡萄状横纹肌肉瘤和胚胎性硬脑膜外横纹肌肉瘤有关。胚胎性横纹肌肉瘤相关的重要基因是DICER1(Dicer 1,Ribonuclease III),其相关通路/超级通路包括信号转导和子宫内膜癌。Lenograstim和Sargramostim已在该疾病的背景下被提及。附属组织包括骨骼肌和肺,相关表型为稳态/新陈代谢和正常。
Related ID:
MALACARDS:EMB005
MESH:D018233
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
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51
760
--
EMB005
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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