Diamond-Blackfan Anemia 7 (DBA7)

Alias:
Dba7
Rpl11-Related Diamond-Blackfan Anemia
Anemia, Diamond-Blackfan, Type 7
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
Diamond-Blackfan贫血7,也称为dba7,与软骨毛发发育不良和远端型6关节挛缩有关。与Diamond-Blackfan贫血7相关的基因是RPL11(核糖体蛋白L11),其相关通路/超级通路包括信号转导和G蛋白偶联受体下游信号转导。附属组织包括骨髓和骨,相关表型包括马蹄肾和法洛四联症。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
--
6
29
4

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