subsarcolemmal accumulations of abnormally shaped mitochondria Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormally increased number of mitochondria in the cytoplasma adjacent to the sarcolemma (muscle cell membrane), whereby the mitochondria also possess an abnormal morphology. (Human Phenotype Ontology, HP_0003548)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003548
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Genes

5 genes associated with the subsarcolemmal accumulations of abnormally shaped mitochondria phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
C10ORF2 chromosome 10 open reading frame 2
ISCU iron-sulfur cluster assembly enzyme
POLG polymerase (DNA directed), gamma
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
TYMP thymidine phosphorylase