progressive external ophthalmoplegia Gene Set
Genes
10 genes associated with the progressive external ophthalmoplegia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
| Symbol |
Name |
|
APTX
|
aprataxin
|
|
C10ORF2
|
chromosome 10 open reading frame 2
|
|
MGME1
|
mitochondrial genome maintenance exonuclease 1
|
|
OPA1
|
optic atrophy 1 (autosomal dominant)
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POLG2
|
polymerase (DNA directed), gamma 2, accessory subunit
|
|
RRM2B
|
ribonucleotide reductase M2 B (TP53 inducible)
|
|
SLC25A4
|
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
|
|
TYMP
|
thymidine phosphorylase
|
|
VARS2
|
valyl-tRNA synthetase 2, mitochondrial
|
