DISEASES

Disease-gene associations mined from literature

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Human genes for myopathy, lactic acidosis, and sideroblastic anemia

Myopathy, lactic acidosis, and sideroblastic anemia [DOID:0080099]

A mitochondrial myopathy that is characterised by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy.

Synonyms:  myopathy, lactic acidosis, and sideroblastic anemia,  and sideroblastic anemia myopathy, lactic acidosis,  DOID:0080099,  myopathy lactic acidosis and sideroblastic anemia,  and sideroblastic anemia myopathy lactic acidosis

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.