Spinocerebellar Ataxia, Autosomal Recessive 26 (SCAR26)

Alias:
Scar26
Autosomal Recessive Spinocerebellar Ataxia 26
Spinocerebellar Ataxia, Autosomal Recessive, 26
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
脊髓小脑性共济失调26型,又称scar26,与席克尔综合症和脑瘫、共济失调、常染色体隐性有关。与脊髓小脑性共济失调26型相关的重要基因是XRCC1(X射线修复交叉补体1),其相关通路/超级通路包括非同源末端连接中的DNA损伤和DNA-PK通路。附属组织包括脊髓和小脑,相关表型为构音障碍和吞咽困难。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
5
26
1

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