external ophthalmoplegia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Paralysis of the external ocular muscles. (Human Phenotype Ontology, HP_0000544)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000544
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24 genes associated with the external ophthalmoplegia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain
APTX aprataxin
ATXN3 ataxin 3
C10ORF2 chromosome 10 open reading frame 2
DNA2 DNA replication helicase/nuclease 2
DNM2 dynamin 2
FA2H fatty acid 2-hydroxylase
KIF21A kinesin family member 21A
MGME1 mitochondrial genome maintenance exonuclease 1
MTM1 myotubularin 1
OPA1 optic atrophy 1 (autosomal dominant)
PHOX2A paired-like homeobox 2a
POLG polymerase (DNA directed), gamma
POLG2 polymerase (DNA directed), gamma 2, accessory subunit
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
RYR1 ryanodine receptor 1 (skeletal)
SALL4 spalt-like transcription factor 4
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
STUB1 STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
TUBB3 tubulin, beta 3 class III
TYMP thymidine phosphorylase
VARS2 valyl-tRNA synthetase 2, mitochondrial