leukodystrophy Gene Set

Dataset GeneRIF Biological Term Annotations
Category structural or functional annotations
Type biological term
Description A cerebral degeneration characterized by dysfunction of the white matter of the brain. (Human Disease Ontology, DOID_10579)
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Genes

22 genes co-occuring with the biological term leukodystrophy in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

Symbol Name
ARSA arylsulfatase A
CSF1R colony stimulating factor 1 receptor
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
FA2H fatty acid 2-hydroxylase
GALC galactosylceramidase
GBE1 glucan (1,4-alpha-), branching enzyme 1
GJC2 gap junction protein, gamma 2, 47kDa
HSPD1 heat shock 60kDa protein 1 (chaperonin)
LMNB1 lamin B1
MAG myelin associated glycoprotein
MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1
MPV17 MpV17 mitochondrial inner membrane protein
NCAM1 neural cell adhesion molecule 1
NDUFV1 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
POLR3B polymerase (RNA) III (DNA directed) polypeptide B
POU2F1 POU class 2 homeobox 1
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3
SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4
ST8SIA4 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4