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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, Autosomal Recessive 27 (DFNB27)
Alias:
Autosomal Recessive Nonsyndromic Deafness 27
Dfnb27
Autosomal Recessive Deafness 27
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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
先天性聋,常染色体隐性27型,又称常染色体隐性非综合征性聋27型,与先天性聋,常染色体显性16型有关。与先天性聋,常染色体隐性27型有关的重要基因是DFNB27(先天性聋,常染色体隐性27型),其相关通路/超级通路包括嗅觉信号通路和声音感觉处理通路。相关表型包括感觉神经性听力障碍和听力/前庭/耳障碍。
Related ID:
MALACARDS:DFN169
OMIM:605818
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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7
62
1
DFN169
Medical Symptom
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Gene & Mutation
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Related Gene
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