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
非罕见病
Alpha-2-Plasmin Inhibitor Deficiency (APLID)
Alias:
Plasmin Inhibitor Deficiency
Antiplasmin Deficiency
Antiplasmin Defiency
Aplid
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
α-2纤溶酶抑制剂缺乏症,也称为纤溶酶抑制剂缺乏症,与出血性疾病和严重子痫前期有关。与α-2纤溶酶抑制剂缺乏症相关的基因是SERPINF2(丝氨酸蛋白酶家族F成员2),其相关通路/超级通路包括对细胞质钙离子升高的反应和胰岛素样生长因子(IGF)通过胰岛素样生长因子结合蛋白(IGFBPs)的运输和摄取的调节。相关组织包括全血和心脏,相关表型为易瘀伤和创伤后持续出血。
Related ID:
MALACARDS:ALP043
OMIM:262850
MESH:D006474
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
孩童期
--
5
33
13
ALP043
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