DISEASES

Disease-gene associations mined from literature

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Human genes for autosomal dominant nonsyndromic deafness 2A

Autosomal dominant nonsyndromic deafness 2A [DOID:0110558]

An autosomal dominant nonsyndromic deafness that is characterized by high frequency progressive hearing loss and has_material_basis_in mutation in the KCNQ4 gene on chromosome 1p34.2.

Synonyms:  autosomal dominant nonsyndromic deafness 2A,  DOID:0110558,  autosomal dominant deafness 2A,  DFNA2A

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.