DISEASES

Disease-gene associations mined from literature

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Human genes for autosomal recessive nonsyndromic deafness 84A

Autosomal recessive nonsyndromic deafness 84A [DOID:0110529]

An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the PTPRQ gene on chromosome 12q21.

Synonyms:  autosomal recessive nonsyndromic deafness 84A,  DOID:0110529,  DFNB84A,  autosomal recessive deafness 84A,  autosomal recessive deafness 84A with vestibular dysfunction

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.

Currently maintained by Qingyao Huang at Swiss Institute of Bioinformatics, University of Zurich. Licensed under CC BY 4.0.