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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
Meckel Diverticulum
Alias:
Meckel's Diverticulum
Persistent Vitelline Duct
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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
美克尔憩室,也称为美克尔憩室,与小肠良性肿瘤和憩室炎有关。与美克尔憩室相关的重要基因是CRP(C反应蛋白),其相关通路/超级通路包括细胞骨架重塑、Rho GTPases调节的肌动蛋白细胞骨架和消化和吸收。附属组织包括小肠和胰腺,相关表型为美克尔憩室和稳态/代谢。
Related ID:
MALACARDS:MCK029
OMIM:155140
MESH:D008467
ICD11:216192536
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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18
259
1
MCK029
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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