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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
Anus Basaloid Carcinoma
Alias:
Basaloid Carcinoma of the Anus
Anal Basaloid Carcinoma
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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
肛门基底样癌,又称为肛门基底细胞癌,与基底细胞癌和唾液腺腺样囊性癌有关。肛门基底样癌相关的重要基因是CYLD(CYLD赖氨酸63去泛素酶),其相关通路/超级通路包括胃泌素信号通路和CKAP4信号通路图。在该疾病的背景下提到了卡培他滨和氟尿嘧啶。相关表型是稳态/代谢和生长/大小/身体部位。
Related ID:
MALACARDS:ANS001
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
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19
372
--
ANS001
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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