DISEASES

Disease-gene associations mined from literature

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Human genes for epidermolysis bullosa dystrophica

Epidermolysis bullosa dystrophica [DOID:4959]

An epidermolysis bullosa that is characterized by formation of recurrent blisters secondary to minor trauma in the skin and mucosa, especially in the hands, feet, knees, and elbows, and has_material_basis_in mutation in COL7A1 gene, which encodes a protein that assists assembly of type VII collagen.

Synonyms:  epidermolysis bullosa dystrophica,  DOID:4959,  epidermolysis bullosa dystrophicas,  Dystrophic epidermolysis bullosa,  Dystrophic epidermolysis bullosas

Linkouts:  OMIM #1 #2 #3 #4 #5 #6

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.