DISEASES

Disease-gene associations mined from literature

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Human genes for autosomal recessive nonsyndromic deafness 53

Autosomal recessive nonsyndromic deafness 53 [DOID:0110509]

An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the COL11A2 gene on chromosome 6p21.

Synonyms:  autosomal recessive nonsyndromic deafness 53,  DOID:0110509,  autosomal recessive deafness 53,  DFNB53

The disease-gene associations are derived from automatic text mining of the biomedical literature, manually curated database annotations, cancer mutation data, and genome-wide association studies. The confidence of each association is signified by stars, where ★★★★★ is the highest confidence and ★☆☆☆☆ is the lowest.

Developed by Sune Frankild, Alexander Junge, Albert Pallejà, Dhouha Grissa, Kalliopi Tsafou, and Lars Juhl Jensen from the Novo Nordisk Foundation Center for Protein Research.