ophthalmoplegia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000602
Similar Terms
Downloads & Tools

Genes

58 genes associated with the 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
ACTA1 actin, alpha 1, skeletal muscle
APTX aprataxin
ATXN1 ataxin 1
ATXN2 ataxin 2
ATXN3 ataxin 3
ATXN7 ataxin 7
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BIN1 bridging integrator 1
C10ORF2 chromosome 10 open reading frame 2
C12ORF65 chromosome 12 open reading frame 65
CECR1 cat eye syndrome chromosome region, candidate 1
COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
COX15 cytochrome c oxidase assembly homolog 15 (yeast)
DNA2 DNA replication helicase/nuclease 2
DNM2 dynamin 2
EARS2 glutamyl-tRNA synthetase 2, mitochondrial
FA2H fatty acid 2-hydroxylase
FOXRED1 FAD-dependent oxidoreductase domain containing 1
GBA glucosidase, beta, acid
HRAS Harvey rat sarcoma viral oncogene homolog
KIF21A kinesin family member 21A
KRAS Kirsten rat sarcoma viral oncogene homolog
MGME1 mitochondrial genome maintenance exonuclease 1
MTM1 myotubularin 1
NDUFA10 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa
NDUFA12 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12
NDUFA2 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa
NDUFA9 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa
NDUFAF2 NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
NDUFS3 NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NDUFS7 NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
NDUFS8 NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)
OPA1 optic atrophy 1 (autosomal dominant)
PHOX2A paired-like homeobox 2a
PIEZO2 piezo-type mechanosensitive ion channel component 2
POLG polymerase (DNA directed), gamma
POLG2 polymerase (DNA directed), gamma 2, accessory subunit
ROBO3 roundabout, axon guidance receptor, homolog 3 (Drosophila)
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
RYR1 ryanodine receptor 1 (skeletal)
SALL4 spalt-like transcription factor 4
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SEPN1 selenoprotein N, 1
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
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
SPEG SPEG complex locus
STUB1 STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit
SURF1 surfeit 1
TPM3 tropomyosin 3
TUBB3 tubulin, beta 3 class III
TYMP thymidine phosphorylase
VARS2 valyl-tRNA synthetase 2, mitochondrial