DISEASES

Disease-gene associations mined from literature

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Human genes for autosomal dominant nonsyndromic deafness 51

Autosomal dominant nonsyndromic deafness 51 [DOID:0110577]

An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the fourth decade of life with high frequency progressive hearing loss and has_material_basis_in a 269-kb duplication of chromosome 9q21.11 involving the TJP2 and FAM189A2 genes.

Synonyms:  autosomal dominant nonsyndromic deafness 51,  DOID:0110577,  autosomal dominant deafness 51,  chromosome 9q21.11 duplication syndrome,  DFNA51 ...

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.