Deafness, Autosomal Dominant 51 (DFNA51)

Deafness, Autosomal Dominant 51(来自ICD-11)
别称:
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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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Deafness, Autosomal Dominant 51, also known as autosomal dominant nonsyndromic deafness 51, is related to nonsyndromic hearing loss and deafness, autosomal dominant 50. An important gene associated with Deafness, Autosomal Dominant 51 is TJP2 (Tight Junction Protein 2), and among its related pathways/superpathways is Cell adhesion_Endothelial cell contacts by junctional mechanisms. Related phenotypes are hearing impairment and hearing/vestibular/ear
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基础信息

遗传方式
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参考文献
MALACARDS
AD
Unknown
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9
59
1

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靶点药物

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MGI
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