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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
Biliary Tract Benign Neoplasm
Alias:
Neoplasm of Extrahepatic Bile Ducts
Tumor of the Extrahepatic Bile Duct
Extrahepatic Bile Duct 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
胆道良性肿瘤,又称肝外胆管肿瘤,与胆管囊腺瘤和胆管乳头状瘤有关。与胆道良性肿瘤相关的重要基因是KRT7(角蛋白7),其相关通路/超通路包括糖基化疾病和粘蛋白的O-连接糖基化。附属组织包括乳腺和胆道,相关表型包括活力降低和肿瘤。
Related ID:
MALACARDS:BLR031
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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14
233
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BLR031
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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