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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
罕见病
Lynch Syndrome (HNPCC)
Alias:
Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colon Cancer
Hereditary Nonpolyposis Colorectal Carcinoma
Hereditary Nonpolyposis Colorectal Neoplasms
Familial Nonpolyposis Colon Cancer
Hnpcc
Familial Nonpolyposis Colorectal Cancer
Hereditary Non-Polyposis Colorectal Cancer Syndrome
Colorectal Cancer, Hereditary Nonpolyposis, Type 1
Hereditary Nonpolyposis Colorectal Cancer Syndrome
Hereditary Non-Polyposis Colon Cancer Syndrome
Hereditary Defective Mismatch Repair Syndrome
Hereditary Nonpolyposis Colon Cancer Syndrome
Colorectal Neoplasms, Hereditary Nonpolyposis
Hnpcc - Hereditary Nonpolyposis Colon Cancer
Cancer, Colorectal, Nonpolyposis, Hereditary
Hereditary Nonpolyposis Colorectal Neoplasm
Hereditary Non-Polyposis Colorectal Cancer
Hereditary Non-Polyposis Colon Cancer
Colon Cancer, Familial Nonpolyposis
Cancer Family Syndrome
Coca 1
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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
林奇综合症,又称遗传性非多发性结直肠癌,与林奇综合症1和林奇综合症5有关。与林奇综合症有关的重要基因是MLH1(MutL同源物1),其相关通路/超级通路包括传染病和催乳素信号通路。在该疾病的背景下提到了氟尿嘧啶和奥沙利铂。附属组织包括结肠和小肠,相关表型为便秘和吸收不良。
Related ID:
MALACARDS:LYN001
MESH:D003123
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
成年期
--
122
1933
1243
LYN001
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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