DISEASES

Disease-gene associations mined from literature

SearchDownloadsAbout

Human genes for bullous congenital ichthyosiform erythroderma

Bullous congenital ichthyosiform erythroderma [DOID:0060877]

An ichthyosis characterized by congenital erythema and widespread skin blistering, blisters develop into gray hyperkeratoses with a lichenified appearance, and that has_material_basis_in heterozygous mutation in the KRT2 gene on chromosome 12q13.

Synonyms:  bullous congenital ichthyosiform erythroderma,  bullous congenital ichthyosiform erythrodermas,  DOID:0060877,  bullous type ichthyosis,  ichthyosis bullosa of Siemens ...

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.