Subsarcolemmal Accumulations Of Abnormally Shaped Mitochondria Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
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 https://www.disgenet.org/browser/0/1/0/C4025597
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Genes

6 genes associated with the disease Subsarcolemmal Accumulations Of Abnormally Shaped Mitochondria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ISCU iron-sulfur cluster assembly enzyme
PNPT1 polyribonucleotide nucleotidyltransferase 1
POLG polymerase (DNA directed), gamma
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
TWNK twinkle mtDNA helicase
TYMP thymidine phosphorylase