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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
autosomal dominant nonsyndromic deafness 1
Summary
- Synonym
-
- DFNA1
- Konigsmark syndrome
- LFHL1
- autosomal dominant deafness 1
- autosomal dominant deafness 1, with or without thrombocytopenia
- hereditary low frequency hearing loss 1
- Definition
- An autosomal dominant nonsyndromic deafness that is characterized by low frequency progressive hearing loss and has_material_basis_in mutation in the DIAPH1 gene on chromosome 5q31.
- Super Class
- autosomal dominant nonsyndromic deafness
External Links
- Disease Ontology
- DOID:0110541
- Mondo Disease Ontology
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O75443 | Alpha-tectorin | |
| P07602 | Prosaposin | |
| P15289 | Arylsulfatase A | |
| Q15067 | Peroxisomal acyl-coenzyme A oxidase 1 | |
| Q6YHK3 | CD109 antigen | |
| Q6ZRI0 | Otogelin | |
| Q7RTW8 | Otoancorin | |
| Q86X52 | Chondroitin sulfate synthase 1 | |
| Q99798 | Aconitate hydratase, mitochondrial |
