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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
Autosomal Dominant Nonsyndromic Deafness 77
Alias:
Dfna77
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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
常染色体显性非综合征性聋77,也称为dfna77,与聋症、常染色体显性77和Charcot-Marie-Tooth病、轴突型2o有关。与常染色体显性非综合征性聋77有关的重要基因是PRR12(富含脯氨酸12),其相关通路/超级通路包括MHC I介导的抗原处理和呈递以及细胞对刺激的反应。相关表型是shRNA丰度增加(Z分数> 2)。
Related ID:
MALACARDS:ATS490
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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9
35
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ATS490
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
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Year
IF
No Data Found!
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