DISEASES

Disease-gene associations mined from literature

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Human genes for centronuclear myopathy

Centronuclear myopathy [DOID:14717]

A myopathy characterized by abnormally located nuclei in skeletal muscle cells. The nuclei are located in the center of the cell, instead of their normal location at the periphery.

Synonyms:  centronuclear myopathy,  centronuclear myopathies,  DOID:14717,  myotubular myopathy,  myotubular myopathies

Linkouts:  OMIM #1 #2 #3 #4 #5

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.