Leukodystrophy Gene Set

Dataset DISEASES Curated Gene-Disease Association Evidence Scores 2025
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)
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Genes

51 genes involed in the disease Leukodystrophy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Symbol Name Standardized Value
RNASET2 ribonuclease T2 5.0
MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1 5.0
NOTCH3 notch 3 5.0
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1 5.0
CSF1R colony stimulating factor 1 receptor 5.0
HEPACAM hepatic and glial cell adhesion molecule 5.0
EIF2B5 eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa 4.0
EIF2B4 eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa 4.0
PLEKHG2 pleckstrin homology domain containing, family G (with RhoGef domain) member 2 4.0
FA2H fatty acid 2-hydroxylase 4.0
ATP11A ATPase, class VI, type 11A 4.0
DEGS1 delta(4)-desaturase, sphingolipid 1 4.0
VPS11 vacuolar protein sorting 11 homolog (S. cerevisiae) 4.0
TUBB4A tubulin, beta 4A class IVa 4.0
EIF2B2 eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa 4.0
EIF2B3 eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa 4.0
RARS1 arginyl-tRNA synthetase 1 4.0
HIKESHI heat shock protein nuclear import factor hikeshi 4.0
EPRS1 glutamyl-prolyl-tRNA synthetase 1 4.0
CLDN11 claudin 11 4.0
ACER3 alkaline ceramidase 3 4.0
CNP 2',3'-cyclic nucleotide 3' phosphodiesterase 4.0
TMEM106B transmembrane protein 106B 4.0
AIMP1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 4.0
AIMP2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2 4.0
PYCR2 pyrroline-5-carboxylate reductase family, member 2 4.0
EIF2B1 eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa 4.0
GFAP glial fibrillary acidic protein 4.0
ASPA aspartoacylase 4.0
ARSB arylsulfatase B 4.0
ACBD5 acyl-CoA binding domain containing 5 4.0
PSAP prosaposin 4.0
FBP2 fructose-1,6-bisphosphatase 2 4.0
POLR3K polymerase (RNA) III (DNA directed) polypeptide K, 12.3 kDa 4.0
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa 4.0
POLR3B polymerase (RNA) III (DNA directed) polypeptide B 4.0
GJC2 gap junction protein, gamma 2, 47kDa 4.0
HSPD1 heat shock 60kDa protein 1 (chaperonin) 4.0
NKX6-2 NK6 homeobox 2 4.0
LMNB1 lamin B1 4.0
UFM1 ubiquitin-fold modifier 1 4.0
ARSA arylsulfatase A 4.0
TMEM63A transmembrane protein 63A 4.0
PLP1 proteolipid protein 1 4.0
SLC35B2 solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2 4.0
SUMF1 sulfatase modifying factor 1 4.0
POLR1C polymerase (RNA) I polypeptide C, 30kDa 4.0
POLR1A polymerase (RNA) I polypeptide A, 194kDa 4.0
GALC galactosylceramidase 4.0
RNF220 ring finger protein 220 4.0
TMEM163 transmembrane protein 163 4.0