leukoencephalopathy Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells. (Human Phenotype Ontology, HP_0002352)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002352
Similar Terms
Downloads & Tools


44 genes associated with the leukoencephalopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AARS2 alanyl-tRNA synthetase 2, mitochondrial
AP4B1 adaptor-related protein complex 4, beta 1 subunit
ARHGAP31 Rho GTPase activating protein 31
AUH AU RNA binding protein/enoyl-CoA hydratase
CLCN2 chloride channel, voltage-sensitive 2
CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant
COL4A1 collagen, type IV, alpha 1
CTC1 CTS telomere maintenance complex component 1
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
DARS aspartyl-tRNA synthetase
DDHD2 DDHD domain containing 2
EIF2B1 eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa
EIF2B2 eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa
EIF2B3 eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa
EIF2B4 eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa
EIF2B5 eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
FA2H fatty acid 2-hydroxylase
GLUL glutamate-ammonia ligase
L2HGDH L-2-hydroxyglutarate dehydrogenase
LAMA1 laminin, alpha 1
LARGE like-glycosyltransferase
LMNB1 lamin B1
MARS2 methionyl-tRNA synthetase 2, mitochondrial
MEF2C myocyte enhancer factor 2C
MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1
MRPS22 mitochondrial ribosomal protein S22
NOTCH3 notch 3
OCRL oculocerebrorenal syndrome of Lowe
PC pyruvate carboxylase
PSAP prosaposin
RNASET2 ribonuclease T2
RPIA ribose 5-phosphate isomerase A
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SDHAF1 succinate dehydrogenase complex assembly factor 1
SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
SHANK3 SH3 and multiple ankyrin repeat domains 3
SPG11 spastic paraplegia 11 (autosomal recessive)
SUMF1 sulfatase modifying factor 1
TMEM70 transmembrane protein 70
TREM2 triggering receptor expressed on myeloid cells 2
TREX1 three prime repair exonuclease 1
TSEN54 TSEN54 tRNA splicing endonuclease subunit
TYMP thymidine phosphorylase
TYROBP TYRO protein tyrosine kinase binding protein