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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
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中文
罕见病
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:
MALACARDS:DFN276
OMIM:300914
MESH:D006319
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
DFN276
Medical Symptom
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Gene & Mutation
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