DISEASES

Disease-gene associations mined from literature

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Human genes for Bothnian type palmoplantar keratoderma

Bothnian type palmoplantar keratoderma [DOID:0111707]

A nonepidermolytic palmoplantar keratoderma characterized by a diffuse nonepidermolytic form of palmoplantar keratoderma where the affected areas take on a white, spongy appearance upon exposure to water that has_material_basis_in heterozygous mutation in the AQP5 gene on chromosome 12q13.12.

Synonyms:  Bothnian type palmoplantar keratoderma,  Bothnian type palmoplantar keratodermas,  DOID:0111707,  PPKB,  diffuse palmoplantar keratoderma, Bothnian type ...

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.