DISEASES

Disease-gene associations mined from literature

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Human genes for X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques

X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques [DOID:0112012]

A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in hemizygous mutation in MBTPS2 on chromosome Xp22.12.

Synonyms:  X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques,  DOID:0112012,  Xlinked mutilating palmoplantar keratoderma with periorificial keratotic plaques,  X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaqueses,  OLMSX ...

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.