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 AQP5 on chromosome 12q13.12.

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

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.