DISEASES

Disease-gene associations mined from literature

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Human genes for epidermolysis bullosa simplex with mottled pigmentation

Epidermolysis bullosa simplex with mottled pigmentation [DOID:0111346]

An epidermolysis bullosa simplex characterized by generalized blistering with mottled hyper- and hypopigmentation of the skin that has_material_basis_in heterozygous mutation in KRT5 on chromosome 12q13.13.

Synonyms:  epidermolysis bullosa simplex with mottled pigmentation,  DOID:0111346,  epidermolysis bullosa simplex with mottled pigmentations,  EBSMP,  Epidermolysis bullosa simplex-MP ...

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.