DISEASES

Disease-gene associations mined from literature

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Human genes for congenital fiber-type disproportion

Congenital fiber-type disproportion [DOID:0080102]

A congenital myopathy that is characterized by skeletal muscle weakness, particularly in the muscles of the shoulders, upper arms, hips, and thighs.

Synonyms:  congenital fiber-type disproportion,  DOID:0080102,  congenital fibertype disproportion,  congenital fiber-type disproportions,  CFTD

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.