DISEASES

Disease-gene associations mined from literature

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Human genes for autosomal dominant Emery-Dreifuss muscular dystrophy 5

Autosomal dominant Emery-Dreifuss muscular dystrophy 5 [DOID:0070250]

An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of SYNE2 on chromosome 14q23.2.

Synonyms:  autosomal dominant Emery-Dreifuss muscular dystrophy 5,  autosomal dominant EmeryDreifuss muscular dystrophy 5,  DOID:0070250,  EDMD5,  Emery-Dreifuss muscular dystrophy 5, autosomal dominant ...

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.