DISEASES

Disease-gene associations mined from literature

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Human genes for autosomal dominant Emery-Dreifuss muscular dystrophy 7

Autosomal dominant Emery-Dreifuss muscular dystrophy 7 [DOID:0070252]

An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of TMEM43 on chromosome 3p25.1.

Synonyms:  autosomal dominant Emery-Dreifuss muscular dystrophy 7,  autosomal dominant EmeryDreifuss muscular dystrophy 7,  DOID:0070252,  EDMD7,  Emery-Dreifuss muscular dystrophy 7, 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.