Chronic Progressive External Ophthalmoplegia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0162674
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Genes

39 genes associated with the disease Chronic Progressive External Ophthalmoplegia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
AFG3L2 AFG3-like AAA ATPase 2
APTX aprataxin
ATXN3 ataxin 3
C1QBP complement component 1, q subcomponent binding protein
CHMP1B charged multivesicular body protein 1B
COX2
DGUOK deoxyguanosine kinase
DNA2 DNA replication helicase/nuclease 2
FGF21 fibroblast growth factor 21
GJB1 gap junction protein, beta 1, 32kDa
IL1A interleukin 1, alpha
IL1B interleukin 1, beta
MAPKAP1 mitogen-activated protein kinase associated protein 1
MGME1 mitochondrial genome maintenance exonuclease 1
MT-ATP8 ATP synthase F0 subunit 8
MT-CYB cytochrome b
NPTX2 neuronal pentraxin II
OPA1 optic atrophy 1 (autosomal dominant)
POLG polymerase (DNA directed), gamma
POLG2 polymerase (DNA directed), gamma 2, accessory subunit
POLRMT polymerase (RNA) mitochondrial (DNA directed)
PRIMPOL primase and polymerase (DNA-directed)
PRPF6 pre-mRNA processing factor 6
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
RNASEH1 ribonuclease H1
RPTOR regulatory associated protein of MTOR, complex 1
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
SCO2 SCO2 cytochrome c oxidase assembly protein
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SOD1 superoxide dismutase 1, soluble
SOD2 superoxide dismutase 2, mitochondrial
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive)
TFAM transcription factor A, mitochondrial
TK2 thymidine kinase 2, mitochondrial
TNPO1 transportin 1
TOP3A topoisomerase (DNA) III alpha
TWNK twinkle mtDNA helicase
TYMP thymidine phosphorylase
TYR tyrosinase