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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 Dominant 51 (DFNA51)
Alias:
Autosomal Dominant Nonsyndromic Deafness 51
Chromosome 9q21.11 Duplication Syndrome
Dfna51
Autosomal Dominant Nonsyndromic Hearing Loss 51
Deafness, Autosomal Dominant, Type 51
Autosomal Dominant Deafness 51
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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,常染色体显性51型,又称常染色体显性非综合征性聋51型,与非综合征性听力损失和先天性聋,常染色体显性50型有关。与先天性聋,常染色体显性51型有关的重要基因是TJP2(紧密连接蛋白2),其相关通路/超级通路包括细胞粘附/内皮细胞接触通过连接机制。相关表型为听力障碍和听力/前庭/耳障碍。
Related ID:
MALACARDS:DFN246
OMIM:613558
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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9
59
1
DFN246
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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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
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IF
No Data Found!
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