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
Bleeding Disorder, Platelet-Type, 24 (BDPLT24)
Alias:
Glanzmann Thrombasthenia-Like with Macrothrombocytopenia 2
Bleeding Disorder, Platelet-Type, 24, Autosomal Dominant
Bdplt24
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
出血障碍,血小板型,24,又称巨血小板减少性Glanzmann血小板无力症2,与Glanzmann血小板无力症2和血小板无力症有关。与出血障碍,血小板型,24有关的重要基因是ITGB3(整合素β3亚单位)。相关表型为血小板减少症和月经过多。
Related ID:
MALACARDS:BLD174
OMIM:619271
MESH:D001791
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
--
1
11
6
BLD174
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