muscle abnormality related to mitochondrial dysfunction Gene Set
Genes
19 genes associated with the muscle abnormality related to mitochondrial dysfunction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
| Symbol |
Name |
|
AGK
|
acylglycerol kinase
|
|
C10ORF2
|
chromosome 10 open reading frame 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)
|
|
ETHE1
|
ethylmalonic encephalopathy 1
|
|
FASTKD2
|
FAST kinase domains 2
|
|
ISCU
|
iron-sulfur cluster assembly enzyme
|
|
PET100
|
PET100 homolog (S. cerevisiae)
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POLG2
|
polymerase (DNA directed), gamma 2, accessory subunit
|
|
PUS1
|
pseudouridylate synthase 1
|
|
RRM2B
|
ribonucleotide reductase M2 B (TP53 inducible)
|
|
SLC25A4
|
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
|
|
TACO1
|
translational activator of mitochondrially encoded cytochrome c oxidase I
|
|
TK2
|
thymidine kinase 2, mitochondrial
|
|
TYMP
|
thymidine phosphorylase
|
