DISEASES

Disease-gene associations mined from literature

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Human genes for epidermolytic hyperkeratosis

Epidermolytic hyperkeratosis [DOID:4603]

Epidermolytic hyperkeratosis, (also known as Bullous congenital ichthyosiform erythroderma, Bullous ichthyosiform erythroderma,:482 or bullous congenital ichthyosiform erythroderma Brocq) is a rare ichthyosis skin disease affecting around 1 in 250,000 people.

Synonyms:  epidermolytic hyperkeratosis,  DOID:4603,  Bullous ichthyosiform erythroderma (disorder),  Epidermolytic palmoplantar hyperkeratosis,  bullous congenital ichthyosiform erythroderma ...

The disease associations are derived via automatic text mining of the biomedical literature and have not been manually verified. The confidence of each association is signified by stars, where ★★★★☆ is the highest confidence and ★☆☆☆☆ is the lowest.

Each disease–gene association is based on a text-mining score, which is proportional to 1) the absolute number of comentionings and 2) the ratio of observed to expected comentionings (i.e. the enrichment). These scores are normalized to z-scores by comparing them to a random background. This is represented by stars, each star corresponding to two standard deviations above the mean of the background distribution.

Developed by Sune Frankild and Lars Juhl Jensen from the Novo Nordisk Foundation Center for Protein Research.