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
非罕见病
Deafness, Autosomal Recessive 36, with or Without Vestibular Involvement (DFNB36)
Alias:
Deafness, Autosomal Recessive 36
Deafness, Neurosensory, Without Vestibular Involvement, Autosomal Dominant
Deafness, Autosomal Recessive 36, Without Vestibular Involvement
Deafness, Without Vestibular Involvement, Autosomal Dominant
Dfnb36
Deafness, Autosomal Recessive, Type 36, with/without Vestibular Involvement
Deafness, Autosomal Recessive, 36, with or Without Vestibular Involvement
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 36
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 36
Deafness, Autosomal Dominant, Without Vestibular Involvement
Autosomal Recessive Nonsyndromic Hearing Loss 36
Dfnawvi
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
耳聋,常染色体隐性36型,伴有或不伴有前庭参与,也称为耳聋,常染色体隐性36型,与常染色体隐性非综合征性耳聋36有关。与耳聋,常染色体隐性36型,伴有或不伴有前庭参与有关的重要基因是ESPN(Espin)。相关组织包括大脑,相关表型为感觉神经性听力障碍和前庭无反应。
Related ID:
MALACARDS:DFN356
OMIM:609006
MESH:D006319
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
1
7
6
DFN356
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