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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
Anal Squamous Cell Carcinoma
Alias:
Epidermoid Anal Carcinoma
Carcinoma of Anal Margin
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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
肛门鳞状细胞癌,又称表皮样肛门癌,与鳞状细胞癌和抑瘤基因3有关。与肛门鳞状细胞癌相关的重要基因是CDKN2A(周期依赖性激酶抑制剂2A),其相关通路/超级通路包括类I MHC介导的抗原处理和呈递以及子宫内膜癌。在该疾病的背景下提到了药物纳武单抗和紫杉醇。附属组织包括T细胞和宫颈,相关表型为活力降低和肿瘤
Related ID:
MALACARDS:ANL017
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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18
364
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ANL017
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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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
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IF
No Data Found!
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