DISEASES

Disease-gene associations mined from literature

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Human genes for epidermolysis bullosa simplex with muscular dystrophy

Epidermolysis bullosa simplex with muscular dystrophy [DOID:0090017]

An syndrome characterized by early childhood onset of progressive muscular dystrophy and blistering skin changes and that has_material_basis_in homozygous or compound heterozygous mutation in the PLEC gene on chromosome 8q24.

Synonyms:  epidermolysis bullosa simplex with muscular dystrophy,  DOID:0090017,  epidermolysis bullosa simplex with muscular dystrophies,  epidermolysis bullosa simplex and limb-girdle muscular dystrophy,  limb-girdle muscular dystrophy with epidermolysis bullosa simplex ...

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.