External Ophthalmoplegia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Paralysis of the external ocular muscles. (Human Phenotype Ontology, HP_0000544)
External Link https://www.disgenet.org/browser/0/1/0/C0162292
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Genes

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

Symbol Name
ATXN3 ataxin 3
BIN1 bridging integrator 1
CHAT choline O-acetyltransferase
DNA2 DNA replication helicase/nuclease 2
DNM2 dynamin 2
FRG1 FSHD region gene 1
GH1 growth hormone 1
LRP12 low density lipoprotein receptor-related protein 12
LYRM7 LYR motif containing 7
MFF mitochondrial fission factor
MGME1 mitochondrial genome maintenance exonuclease 1
MTM1 myotubularin 1
MTMR14 myotubularin related protein 14
MYF5 myogenic factor 5
MYF6 myogenic factor 6 (herculin)
MYH2 myosin, heavy chain 2, skeletal muscle, adult
NPC1 Niemann-Pick disease, type C1
OPA1 optic atrophy 1 (autosomal dominant)
POLG polymerase (DNA directed), gamma
POLG2 polymerase (DNA directed), gamma 2, accessory subunit
RNASEH1 ribonuclease H1
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
RYR1 ryanodine receptor 1 (skeletal)
SALL4 spalt-like transcription factor 4
SCN4A sodium channel, voltage gated, type IV alpha subunit
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SDHAF1 succinate dehydrogenase complex assembly factor 1
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SELENON selenoprotein N
SLC19A3 solute carrier family 19 (thiamine transporter), member 3
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SLC52A3 solute carrier family 52 (riboflavin transporter), member 3
TK2 thymidine kinase 2, mitochondrial
TUBB3 tubulin, beta 3 class III
TWNK twinkle mtDNA helicase
TYMP thymidine phosphorylase