DISEASES

Disease-gene associations mined from literature

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Human genes for autosomal dominant limb-girdle muscular dystrophy type 1H

Autosomal dominant limb-girdle muscular dystrophy type 1H [DOID:0110303]

An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in with variation in the region 3p25.1-p23.

Synonyms:  autosomal dominant limb-girdle muscular dystrophy type 1H,  autosomal dominant limbgirdle muscular dystrophy type 1H,  DOID:0110303,  LGMD1H,  muscular dystrophy limb-girdle type 1H ...

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.