DISEASES

Disease-gene associations mined from literature

SearchDownloadsAbout

Human genes for autosomal recessive nonsyndromic deafness 57

Autosomal recessive nonsyndromic deafness 57 [DOID:0111635]

An autosomal recessive nonsyndromic deafness characterized by symmetric bilateral moderate to severe hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in PDZD7 on chromosome 10q24.31.

Synonyms:  autosomal recessive nonsyndromic deafness 57,  DOID:0111635,  autosomal recessive deafness 57,  DFNB57

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.