increased intramyocellular lipid droplets Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormal increase in intracellular lipid droplets In a muscle. The number and size of these drops can increase with somd disorders of lipid metabolism affecting muscle. See pmid 20691590 for histological images. (Human Phenotype Ontology, HP_0012240)
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13 genes associated with the increased intramyocellular lipid droplets phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ADCK3 aarF domain containing kinase 3
AFG3L2 AFG3-like AAA ATPase 2
COA5 cytochrome c oxidase assembly factor 5
COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
COX14 COX14 cytochrome c oxidase assembly factor
COX20 COX20 cytochrome c oxidase assembly factor
COX6B1 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
FASTKD2 FAST kinase domains 2
ISCU iron-sulfur cluster assembly enzyme
PET100 PET100 homolog (S. cerevisiae)
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SDHAF1 succinate dehydrogenase complex assembly factor 1
TACO1 translational activator of mitochondrially encoded cytochrome c oxidase I