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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
Colorectal Cancer, Hereditary Nonpolyposis, Type 6 (HNPCC6)
Alias:
Hnpcc6
Hereditary Nonpolyposis Colorectal Cancer Type 6
Cancer, Colorectal, Nonpolyposis, Hereditary, Type 6
Colon Cancer, Hereditary Nonpolyposis, Type 6
Hereditary Non-Polyposis Colorectal Cancer 6
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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
结直肠癌,遗传性非多发性息肉病,类型6,也称为 hnpcc6,与梭形细胞眼内黑色素瘤和遗传性混合性多发性息肉综合征有关。与结直肠癌,遗传性非多发性息肉病,类型6相关的基因是 TGFBR2(转化生长因子β受体2),其相关通路/超级通路包括传染性疾病和同源导向修复。相关组织包括结肠和小肠,相关表型为遗传性非多发性结直肠癌和shRNA丰度增加(Z-score > 2)。
Related ID:
MALACARDS:CLR055
OMIM:614331
MESH:D003123
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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8
76
4
CLR055
Medical Symptom
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Description
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No data available
Gene & Mutation
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No data available
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Name
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No data available
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Category
Name
MGI
Related Gene
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