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
Myoglobinuria, Recurrent (RM-MT)
Alias:
Recurrent Myoglobinuria Mitochondrial
Myoglobinuria Recurrent
Rm-Mt
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
肌红蛋白尿,复发性,又称复发性肌红蛋白尿线粒体,与获得性特发性铁粒幼细胞性贫血和辅酶缺乏症有关,良性婴儿线粒体肌病。与肌红蛋白尿,复发性相关的基因是MT-CO1(线粒体编码的细胞色素C氧化酶I),其相关通路/超级通路包括代谢和产热。附属组织包括骨骼肌,相关表型为粗糙红色肌肉纤维和运动引起的肌红蛋白尿。
Related ID:
MALACARDS:MYG007
OMIM:550500
MESH:D009212
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
线粒体
未知
--
6
55
2
MYG007
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