DISEASES

Disease-gene associations mined from literature

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Human genes for mitochondrial pyruvate carrier deficiency

Mitochondrial pyruvate carrier deficiency [DOID:0080363]

A mitochondrial metabolism disease that is characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation and has_material_basis_in homozygous mutation in the BRP44L gene on chromosome 6q27.

Synonyms:  mitochondrial pyruvate carrier deficiency,  DOID:0080363,  mitochondrial pyruvate carrier deficiencies

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.