DISEASES

Disease-gene associations mined from literature

JensenLab
SearchDownloadsAbout

Human genes for congenital myopathy 4A

Congenital myopathy 4A [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 myopathy 4A,  DOID:0080102,  CFTD,  congenital fiber-type disproportion,  congenital fibertype disproportion ...

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.

Currently maintained by Qingyao Huang at Swiss Institute of Bioinformatics, University of Zurich. Licensed under CC BY 4.0.