Leukodystrophy Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A cerebral degeneration characterized by dysfunction of the white matter of the brain. (Human Disease Ontology, DOID_10579)
External Link https://www.disgenet.org/browser/0/1/0/C1837355
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Genes

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

Symbol Name
AARS2 alanyl-tRNA synthetase 2, mitochondrial
ABAT 4-aminobutyrate aminotransferase
ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1
ACER3 alkaline ceramidase 3
ACOT12 acyl-CoA thioesterase 12
ACOX1 acyl-CoA oxidase 1, palmitoyl
ACTB actin, beta
ADA adenosine deaminase
ADAR adenosine deaminase, RNA-specific
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
AIMP1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
AIMP2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2
ALMS1 Alstrom syndrome protein 1
APOE apolipoprotein E
APOPT1 apoptogenic 1, mitochondrial
AQP4 aquaporin 4
ARHGEF2 Rho/Rac guanine nucleotide exchange factor (GEF) 2
ARSA arylsulfatase A
ARSB arylsulfatase B
ASPA aspartoacylase
ATN1 atrophin 1
ATP5E ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit
ATRN attractin
BOLA3 bolA family member 3
CD24 CD24 molecule
CDSN corneodesmosin
CLCN2 chloride channel, voltage-sensitive 2
COASY CoA synthase
COL4A1 collagen, type IV, alpha 1
COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
COX15 cytochrome c oxidase assembly homolog 15 (yeast)
COX8A cytochrome c oxidase subunit VIIIA (ubiquitous)
CPS1 carbamoyl-phosphate synthase 1, mitochondrial
CSF1 colony stimulating factor 1 (macrophage)
CSF1R colony stimulating factor 1 receptor
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
CSH1 chorionic somatomammotropin hormone 1 (placental lactogen)
CSH2 chorionic somatomammotropin hormone 2
CTC1 CTS telomere maintenance complex component 1
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DARS1 aspartyl-tRNA synthetase 1
DARS2 aspartyl-tRNA synthetase 2, mitochondrial
DCPS decapping enzyme, scavenger
DEFB4A defensin, beta 4A
DEFB4B defensin, beta 4B
DEGS1 delta(4)-desaturase, sphingolipid 1
DLL3 delta-like 3 (Drosophila)
ECHS1 enoyl CoA hydratase, short chain, 1, mitochondrial
EDNRB endothelin receptor type B
EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4
EIF2B1 eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa
EIF2B2 eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa
EIF2B4 eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa
EIF2B5 eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
EIF2S2 eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa
ELK4 ELK4, ETS-domain protein (SRF accessory protein 1)
EPRS1 glutamyl-prolyl-tRNA synthetase 1
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
FA2H fatty acid 2-hydroxylase
FAM126A family with sequence similarity 126, member A
FBXL4 F-box and leucine-rich repeat protein 4
FGF21 fibroblast growth factor 21
FOXRED1 FAD-dependent oxidoreductase domain containing 1
FUT1 fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)
GALC galactosylceramidase
GBE1 glucan (1,4-alpha-), branching enzyme 1
GDF15 growth differentiation factor 15
GFAP glial fibrillary acidic protein
GJA1 gap junction protein, alpha 1, 43kDa
GJB1 gap junction protein, beta 1, 32kDa
GJC2 gap junction protein, gamma 2, 47kDa
GLB1 galactosidase, beta 1
GLRX5 glutaredoxin 5
GPM6B glycoprotein M6B
HEPACAM hepatic and glial cell adhesion molecule
HIKESHI heat shock protein nuclear import factor hikeshi
HOXB4 homeobox B4
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HSPA14 heat shock 70kDa protein 14
HSPA9 heat shock 70kDa protein 9 (mortalin)
HSPD1 heat shock 60kDa protein 1 (chaperonin)
IBA57 IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)
IDS iduronate 2-sulfatase
IFIH1 interferon induced with helicase C domain 1
ISCA1 iron-sulfur cluster assembly 1
ISCA2 iron-sulfur cluster assembly 2
ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
KARS1 lysyl-tRNA synthetase 1
KIF5A kinesin family member 5A
LGALS14 lectin, galactoside-binding, soluble, 14
LIPT1 lipoyltransferase 1
LMNB1 lamin B1
LMNB2 lamin B2
LRP1 low density lipoprotein receptor-related protein 1
MAG myelin associated glycoprotein
MBP myelin basic protein
MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1
MOG myelin oligodendrocyte glycoprotein
MPV17 MpV17 mitochondrial inner membrane protein
MT-ND2 MTND2
MT-ND3 NADH dehydrogenase, subunit 3 (complex I)
MTFMT mitochondrial methionyl-tRNA formyltransferase
NADK2 NAD kinase 2, mitochondrial
ND1
NDUFA1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
NDUFA10 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa
NDUFA11 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa
NDUFA12 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12
NDUFA13 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13
NDUFA2 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa
NDUFA4 NDUFA4, mitochondrial complex associated
NDUFA6 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa
NDUFA9 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa
NDUFAF1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 1
NDUFAF2 NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
NDUFAF3 NADH dehydrogenase (ubiquinone) complex I, assembly factor 3
NDUFAF4 NADH dehydrogenase (ubiquinone) complex I, assembly factor 4
NDUFAF5 NADH dehydrogenase (ubiquinone) complex I, assembly factor 5
NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
NDUFB10 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa
NDUFB11 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa
NDUFB3 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa
NDUFB8 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, 19kDa
NDUFB9 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa
NDUFS1 NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
NDUFS2 NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
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)
NDUFS6 NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (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)
NDUFV1 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
NDUFV2 NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
NFU1 NFU1 iron-sulfur cluster scaffold
NKX6-2 NK6 homeobox 2
NOTCH3 notch 3
NPC1 Niemann-Pick disease, type C1
NUBPL nucleotide binding protein-like
OLIG1 oligodendrocyte transcription factor 1
OLIG2 oligodendrocyte lineage transcription factor 2
PC pyruvate carboxylase
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1
PDXP pyridoxal (pyridoxine, vitamin B6) phosphatase
PET100 PET100 homolog (S. cerevisiae)
PEX1 peroxisomal biogenesis factor 1
PEX16 peroxisomal biogenesis factor 16
PI4KA phosphatidylinositol 4-kinase, catalytic, alpha
PLA2G1B phospholipase A2, group IB (pancreas)
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLB1 phospholipase B1
PLEKHG2 pleckstrin homology domain containing, family G (with RhoGef domain) member 2
PLP1 proteolipid protein 1
PNPT1 polyribonucleotide nucleotidyltransferase 1
POLR1A polymerase (RNA) I polypeptide A, 194kDa
POLR1C polymerase (RNA) I polypeptide C, 30kDa
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
POLR3B polymerase (RNA) III (DNA directed) polypeptide B
POTEF POTE ankyrin domain family, member F
PRDX5 peroxiredoxin 5
PSAP prosaposin
PSMA7 proteasome (prosome, macropain) subunit, alpha type, 7
PTHLH parathyroid hormone-like hormone
PTPRH protein tyrosine phosphatase, receptor type, H
PYCR2 pyrroline-5-carboxylate reductase family, member 2
RARS1 arginyl-tRNA synthetase 1
RMND1 required for meiotic nuclear division 1 homolog (S. cerevisiae)
RNASEH2A ribonuclease H2, subunit A
RNASEH2B ribonuclease H2, subunit B
RNASEH2C ribonuclease H2, subunit C
RNASET2 ribonuclease T2
RNF216 ring finger protein 216
SAMHD1 SAM domain and HD domain 1
SARDH sarcosine dehydrogenase
SCLT1 sodium channel and clathrin linker 1
SCO2 SCO2 cytochrome c oxidase assembly protein
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDS serine dehydratase
SIGMAR1 sigma non-opioid intracellular receptor 1
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SLC19A3 solute carrier family 19 (thiamine transporter), member 3
SLC27A6 solute carrier family 27 (fatty acid transporter), member 6
SLC2A4RG SLC2A4 regulator
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3
SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4
SLURP1 secreted LY6/PLAUR domain containing 1
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SNAP29 synaptosomal-associated protein, 29kDa
SORD sorbitol dehydrogenase
SOX10 SRY (sex determining region Y)-box 10
SOX17 SRY (sex determining region Y)-box 17
SP110 SP110 nuclear body protein
SPG11 spastic paraplegia 11 (autosomal recessive)
SUMF1 sulfatase modifying factor 1
SURF1 surfeit 1
TACO1 translational activator of mitochondrially encoded cytochrome c oxidase I
TIMMDC1 translocase of inner mitochondrial membrane domain containing 1
TMEM106B transmembrane protein 106B
TMEM126B transmembrane protein 126B
TMEM63A transmembrane protein 63A
TREX1 three prime repair exonuclease 1
TSEN54 TSEN54 tRNA splicing endonuclease subunit
TUBB4A tubulin, beta 4A class IVa
TUFM Tu translation elongation factor, mitochondrial
TYMP thymidine phosphorylase
TYR tyrosinase
UFM1 ubiquitin-fold modifier 1
VPS11 vacuolar protein sorting 11 homolog (S. cerevisiae)
VTN vitronectin
WT1 Wilms tumor 1
YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta