Home
Toolbox
Resource
Workflow
Tutorials
Citations
Downloads
Mutation Al-Predictor Flow
Gene-to-Mutation Flow
News & Insights
Genetic Encyclopedia
Frontiers
Industry Insights
Case Studies
About Us
About the Site
Contact Us
Private Policy
User Agreement
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
Log In
|
Sign Up
中文
罕见病
Agammaglobulinemia 4, Autosomal Recessive (AGM4)
Alias:
Agammaglobulinemia 4
Agm4
Agammaglobulinemia, Autosomal Recessive, Due to Blnk Defect
Agammaglobulinemia Autosomal Recessive Due to Blnk Defect
Agammaglobulinemia, Type 4, Autosomal Recessive
B Cell Linker Protein Deficiency
B-Cell Linker Protein Deficiency
Blnk Deficiency
Create a favorites folder
Cancel
Confirm
Add To Favorites
Select a favorites
Description
New favorites >>
Cancel
Confirm
Favorite
基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
先天性无丙种球蛋白血症4型,常染色体隐性遗传,也称为先天性无丙种球蛋白血症4型,与弥漫大B细胞淋巴瘤和B细胞前淋巴细胞白血病有关,症状包括腹泻。与先天性无丙种球蛋白血症4型,常染色体隐性遗传有关的重要基因是BLNK(B细胞连接蛋白),其相关通路/超级通路包括先天免疫系统和G蛋白偶联受体通路。相关组织包括B细胞和T细胞,相关表型包括复发性中耳炎和复发性肺炎。
Related ID:
MALACARDS:AGM023
OMIM:613502
MESH:D000361
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
14
152
3
AGM023
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!
微信
信息比对
科研助手
使用教程
回到顶部