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
Glycine Encephalopathy 1 (GCE1)
Alias:
Non-Ketotic Hyperglycinemia
Gce
Nkh
Infantile Non-Ketotic Hyperglycinemia
Neonatal Non-Ketotic Hyperglycinemia
Infantile Glycine Encephalopathy
Neonatal Glycine Encephalopathy
Classic Glycine Encephalopathy
Hyperglycinemia, Nonketotic
Hyperglycinemia Nonketotic
Glycine Encephalopathy1
Encephalopathy, Glycine
Glycine Encephalopathy
Infantile Nkh
Neonatal Nkh
Gce1
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
Glycine Encephalopathy 1,也被称为非酮症高血糖症,与典型甘氨酸脑病和甘氨酸脑病2有关。与Glycine Encephalopathy 1相关的基因是GLDC(甘氨酸脱羧酶),其相关通路/超级通路包括SLITs和ROBOs表达的调节以及甘氨酸代谢和降解。附属组织包括大脑和脊髓。
Related ID:
MALACARDS:GLY117
OMIM:605899
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
--
7
42
107
GLY117
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