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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
Blood Group, Emm System (EMM)
Alias:
Emm
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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
血型,Emm系统,也被称为emm,与伴有或不伴有肌张力减退、惊厥和小脑萎缩的神经发育障碍以及咽炎有关。与血型,Emm系统有关的重要基因是PIGG(磷脂酰肌醇糖基锚生物合成类G(Emm血型))。
Related ID:
MALACARDS:BLD177
OMIM:619812
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
1
4
7
BLD177
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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