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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
Mismatch Repair Cancer Syndrome 4 (MMRCS4)
Alias:
Mmrcs4
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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
错配修复癌症综合症4,也被称为mmrcs4。与错配修复癌症综合症4有关的重要基因是PMS2(PMS1同源2,错配修复系统成分)。相关组织包括大脑和结肠,相关表型包括大脑半球板缺失和灰质异位。
Related ID:
MALACARDS:MSM025
OMIM:619101
MESH:D009386
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
1
7
18
MSM025
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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