DISEASES

Disease-gene associations mined from literature

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Human genes for facioscapulohumeral muscular dystrophy 1

Facioscapulohumeral muscular dystrophy 1 [DOID:0111192]

A facioscapulohumeral muscular dystrophy that has_material_basis_in contraction of the D4Z4 macrosatellite repeat in the subtelomeric region of chromosome 4q35.

Synonyms:  facioscapulohumeral muscular dystrophy 1,  DOID:0111192,  facioscapulohumeral muscular dystrophy type 1,  facioscapulohumeral muscular dystrophy type 1A,  FSHD1

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.