Deafness, Autosomal Dominant 17 (DFNA17)

Alias:
Dfna17
Autosomal Dominant Nonsyndromic Deafness 17
Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts
Autosomal Dominant Nonsyndromic Hearing Loss 17
Deafness, Autosomal Dominant, Type 17
Deafness, Autosomal Dominant, 17
Autosomal Dominant Deafness 17
Cochleosaccular Degeneration
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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17型,也被称为dfna17,与myh-9相关疾病和迷路炎有关。与听觉障碍,常染色体显性17型相关的基因是MYH9(肌球蛋白重链9),其相关通路/超级通路包括ERK信号通路和整合素通路。相关组织包括骨和肾,相关表型为听力障碍和神经系统异常。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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13
178
11

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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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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