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
Branchiogenic-Deafness Syndrome
Alias:
Branchiogenic Deafness Syndrome
Branchiogenic Hearing Loss Syndrome
Megarbane-Loiselet Syndrome
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
鳃源性聋哑综合症,又名鳃源性聋哑综合症,与斜视和学习障碍有关。与鳃源性聋哑综合症有关的重要基因是EYA1(EYA转录激活因子和磷酸酶1)。附属组织包括眼睛和皮肤,相关表型为感觉神经性听力障碍和身材矮小。
Related ID:
MALACARDS:BRN125
OMIM:609166
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
胎儿期
<1/1000000
1
11
1
BRN125
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