Deafness, Autosomal Dominant 11 (DFNA11)

Alias:
Dfna11
Autosomal Dominant Nonsyndromic Deafness 11
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 11
Autosomal Dominant Nonsyndromic Hearing Loss 11
Deafness, Autosomal Dominant, Type 11
Deafness, Autosomal Dominant, 11
Autosomal Dominant Deafness 11
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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
听觉障碍,常染色体显性11型,也被称为dfna11,与视网膜退化和罕见的遗传性耳聋有关。与听觉障碍,常染色体显性11型相关的基因是MYO7A(肌球蛋白VIIA),其相关通路/超级通路包括嗅觉信号通路和甜味信号通路。相关组织包括大脑,相关表型为神经系统和听觉/前庭/耳。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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16
236
11

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!
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