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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
Congenital Disorder of Glycosylation, Type Iir (CDG2R)
Alias:
Cdg2r
Congenital Disorder of Glycosylation 2r
Cdg Iir
Cdgiir
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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
先天性糖基化障碍,类型Iir,也被称为cdg2r。与先天性糖基化障碍,类型Iir相关的基因是ATP6AP2(ATPase H+ Transporting Accessory Protein 2)。相关组织包括肝脏和T细胞,相关表型包括反复感染和皮肤松弛。
Related ID:
MALACARDS:CNG615
OMIM:301045
MESH:D018981
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
X染色体
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未知
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1
8
1
CNG615
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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