Deafness, Autosomal Dominant 5 (DFNA5)

Alias:
Dfna5
Autosomal Dominant Nonsyndromic Deafness 5
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 5
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 5
Autosomal Dominant Nonsyndromic Hearing Loss 5
Deafness, Autosomal Dominant, Type 5
Deafness, Autosomal Dominant, 5
Autosomal Dominant Deafness 5
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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
听觉障碍, 常染色体显性 5, 也被称为 dfna5, 与常染色体显性非综合征性聋和挛缩、翼状胬肉和脊柱-掌骨-跖骨融合综合征 1a 有关。与听觉障碍, 常染色体显性 5 有关的重要基因是 GSDME (Gasdermin E)。附属组织包括大脑和乳腺。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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6
37
25

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

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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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PMID
Journal
Year
IF
No Data Found!
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