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
Spastic Paraplegia 85, Autosomal Recessive (SPG85)
Alias:
Spg85
Hereditary Spastic Paraplegia 85
Paraplegia, Spastic, Autosomal Recessive, Type 85
Autosomal Recessive Spastic Paraplegia Type 85
Spastic Paraplegia 85 Autosomal Recessive
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
遗传性痉挛性截瘫85型,常染色体隐性,也称为spg85,与遗传性痉挛性截瘫83型,常染色体隐性,和遗传性痉挛性截瘫86型,常染色体隐性有关。与遗传性痉挛性截瘫85型,常染色体隐性相关的基因是RNF170(环指蛋白170),其相关通路/超通路包括整合乳腺癌通路和E2F6介导的转录调控。相关组织包括大脑,相关表型为视神经萎缩和下肢痉挛。
Related ID:
MALACARDS:SPS243
OMIM:619686
MESH:D015419
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
6
24
5
SPS243
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