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
Anterior Segment Dysgenesis 4 (ASGD4)
Alias:
Iridogoniodysgenesis Syndrome
Iridogoniodysgenesis, Type 2
Iris Hypoplasia with Early-Onset Glaucoma, Autosomal Dominant
Iridogoniodysgenesis Type 2
Asgd4
Irid2
Igds
Ihga
Iridogoniodysgenesis Syndrome 2
Iridogoniodysgenesis, Type 1
Iridogoniodysgenesis Type 1
Irid 1
Irid 2
Igds2
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
前节发育不全4,又名虹膜-巩膜发育不全综合征,与前节发育不全3和间质性肉芽肿性关节炎有关。与前节发育不全4有关的重要基因是PITX2(配对同源域蛋白2),其相关通路/超通路包括蛋白质代谢和翻译后修饰:GPI锚定蛋白的合成。相关组织包括眼睛和骨髓,相关表型包括牙齿发育异常和青光眼。
Related ID:
MALACARDS:ANT071
OMIM:137600
MESH:D005124
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
--
17
85
37
ANT071
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