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
Deafness, Autosomal Recessive 62 (DFNB62)
Alias:
Autosomal Recessive Nonsyndromic Deafness 62
Dfnb62
Autosomal Recessive Deafness 62
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
先天性聋,常染色体隐性62型,又称常染色体隐性非综合征性聋62型,与先天性聋,常染色体隐性和外斜视有关。与先天性聋,常染色体隐性62型相关的重要基因是DFNB62(先天性聋,常染色体隐性62型),其相关通路/超级通路包括无机离子/氨基酸/寡肽的运输和Angiopoietin-like蛋白8的调节通路。相关表型为前语言感觉神经性听力损伤。
Related ID:
MALACARDS:DFN179
OMIM:610143
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
5
28
1
DFN179
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