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autosomal dominant nonsyndromic deafness 86
Summary
- Synonym
-
- DFNA86
- autosomal dominant deafness 86
- Definition
- An autosomal dominant nonsyndromic deafness characterized by late-onset progressive hearing loss through p53-mediated hair cell apoptosis that has_material_basis_in heterozygous mutation in the THOC1 gene on chromosome 18p11.
- Super Class
- autosomal dominant nonsyndromic deafness
External Links
- Disease Ontology
- DOID:0070610
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q96FV9 | THO complex subunit 1 |
