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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
非罕见病
Female Reproductive Endometrioid Cancer
Alias:
Endometrioid Tumor
Female Reproductive Endometrioid Neoplasm
Endometrioid Neoplasm
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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
女性生殖内膜样癌,又称内膜样肿瘤,与输卵管内膜样腺癌和内膜样卵巢癌有关。与女性生殖内膜样癌相关的基因是POLE(DNA聚合酶ε催化亚基),其相关通路/超级通路包括基因表达(转录)和ERK信号通路。在该疾病的背景下提到了吉西他滨和卡铂。附属组织包括内皮和卵巢,相关表型是shRNA丰度增加(Z-score>2)和同源重组修复频率增加。
Related ID:
MALACARDS:FML005
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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25
581
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FML005
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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