Deafness, X-Linked 6 (DFNX6)

Alias:
Dfnx6
X-Linked Deafness 6
Deafness, X-Linked, Type 6
Hearing Loss, X-Linked 6
Deafness, X-Linked, 6
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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
先天性非综合征性感音神经性聋6型,也称为dfnx6,与先天性非综合征性感音神经性聋4型和罕见的X连锁非综合征性感音神经性聋dfn有关。与先天性非综合征性感音神经性聋6型有关的重要基因是COL4A6(IV型胶原α6链),其相关通路/超级通路包括ERK信号通路和整合素通路。相关组织包括大脑,相关表型为双侧感音神经性听力障碍和耳蜗不完全分隔。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
X染色体
X显
未知
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6
29
2

Medical Symptom

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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

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CAS Number
Status
Phase
No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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Journal
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IF
No Data Found!
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