DISEASES

Disease-gene associations mined from literature

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Human genes for palmoplantar keratoderma-deafness syndrome

Palmoplantar keratoderma-deafness syndrome [DOID:0111505]

A syndrome characterized by sensorineural hearing loss and progressive hyperkeratosis of the palms and soles that has_material_basis_in heterozygous mutation in GJB2 on chromosome 13q12.11.

Synonyms:  palmoplantar keratoderma-deafness syndrome,  DOID:0111505,  palmoplantar keratodermadeafness syndrome,  palmoplantar keratoderma-deafness disease,  palmoplantar keratoderma-deafness disorder ...

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.