DISEASES

Disease-gene associations mined from literature

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Human genes for autosomal dominant nonsyndromic deafness 48

Autosomal dominant nonsyndromic deafness 48 [DOID:0110571]

An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with progressive hearing loss and has_material_basis_in variation in the chromosome region 12q13-q14.

Synonyms:  autosomal dominant nonsyndromic deafness 48,  DOID:0110571,  autosomal dominant deafness 48,  DFNA48

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.