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MIRAGE
autosomal dominant nonsyndromic deafness 37

Summary
Synonym
  • DFNA37
  • autosomal dominant deafness 37
Definition
An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the COL11A1 gene on chromosome 1p21.1.
Super Class
autosomal dominant nonsyndromic deafness
Disease Ontology
DOID:0070601
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1301 COL11A1 collagen type XI alpha 1 chain
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P12107 Collagen alpha-1(XI) chain
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: April 7, 2025