DISEASES

Disease-gene associations mined from literature

SearchDownloadsAbout

Human genes for autosomal dominant Emery-Dreifuss muscular dystrophy 2

Autosomal dominant Emery-Dreifuss muscular dystrophy 2 [DOID:0070247]

An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of LMNA on chromosome 1q22.

Synonyms:  autosomal dominant Emery-Dreifuss muscular dystrophy 2,  autosomal dominant EmeryDreifuss muscular dystrophy 2,  DOID:0070247,  autosomal dominant limb-girdle muscular dystrophy type 1B,  EDMD2 ...

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.