DISEASES

Disease-gene associations mined from literature

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Human genes for pachyonychia congenita

Pachyonychia congenita [DOID:0050449]

A syndrome that is characterized by hypertrophic nails and hyperkeratosis of the hands and feet and has_material_basis in gene mutations that result in changes in keratin.

Synonyms:  pachyonychia congenita,  DOID:0050449,  pachyonychia congenitas,  Jackson-Lawler Type Pachyonychia Congenita,  Jadassohn-Lewandowsky Syndrome ...

Linkouts:  OMIM #1 #2 #3

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.