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
Immunodeficiency 31b (IMD31B)
Alias:
Imd31b
Immunodeficiency 31b, Mycobacterial and Viral Infections, Autosomal Recessive
Susceptibility to Viral and Mycobacterial Infections Due to Stat1 Deficiency
Predisposition to Severe Viral Infection Due to Stat1 Deficiency
Autosomal Recessive Stat1 Deficiency
Immunodeficiency, Type 31b, Mycobacterial and Viral Infections, Autosomal Recessive
Autosomal Recessive Immunodeficiency 31b, Mycobacterial and Viral Infections
Autosomal Recessive Susceptibility to Mycobacterial and Viral Infections
Mycobacterial and Viral Infections Due to Complete Stat1 Deficiency
Stat1 Deficiency, Autosomal Recessive
Stat1 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
免疫缺陷31b,也称为imd31b,与免疫缺陷31a和病毒感染有关。与免疫缺陷31b有关的重要基因是STAT1(信号转导和转录激活因子1),其相关通路/超通路包括NF-κB信号通路和人类冠状病毒-干扰素诱导的宿主-病原体相互作用。附属组织包括髓系和T细胞,相关表型包括反复病毒感染和反复结核分枝杆菌感染。
Related ID:
MALACARDS:IMM178
OMIM:613796
MESH:D007153
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
8
90
49
IMM178
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