DISEASES

Disease-gene associations mined from literature

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Human genes for autosomal dominant limb-girdle muscular dystrophy type 2

Autosomal dominant limb-girdle muscular dystrophy type 2 [DOID:0110304]

An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the TNPO3 gene on chromosome 7q32.

Synonyms:  autosomal dominant limb-girdle muscular dystrophy type 2,  autosomal dominant limbgirdle muscular dystrophy type 2,  DOID:0110304,  autosomal dominant limb-girdle muscular dystrophy type 1F,  LGMD1F ...

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.