Human | CCR2 | 729230 | chemokine (C-C motif) receptor 2 | neither CCR5 nor CCR2 polymorphisms showed peculiar segregation with progressive multifocal leukoencephalopathy and/or non-determined leukoencephalopathy |
Human | DARS2 | 55157 | aspartyl-tRNA synthetase 2, mitochondrial | Mutations in DARS2, which encodes mitochondrial aspartyl-tRNA synthetase, in affected individuals with leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation |
Human | TREM2 | 54209 | triggering receptor expressed on myeloid cells 2 | MRI shows leukoencephalopathy |
Human | MLC1 | 23209 | megalencephalic leukoencephalopathy with subcortical cysts 1 | Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts 13 novel mutations are associated with Megalencephalic leukoencephalopathy with subcortical cysts analysis of novel variants in MLC1 in patients with vacuolating megalencephalic leukoencephalopathy with subcortical cysts KIAA0027 alleles were evaluated for potential roles in susceptibility to megalencephalic leukoencephalopathy and schizophrenia |
Human | RPIA | 22934 | ribose 5-phosphate isomerase A | |
Human | TREX1 | 11277 | three prime repair exonuclease 1 | |
Human | EIF2B5 | 8893 | eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa | Arg113His mutation in eIF2B5 associated with adult onset of vanishing white matter leukoencephalopathy is not present in multiple sclerosis patients Leukoencephalopathy, severe |
Human | EIF2B2 | 8892 | eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa | Leukoencephalopathy, severe |
Human | EIF2B3 | 8891 | eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa | Leukoencephalopathy, severe |
Human | EIF2B4 | 8890 | eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa | Leukoencephalopathy, severe |
Human | TYROBP | 7305 | TYRO protein tyrosine kinase binding protein | MRI shows leukoencephalopathy |
Human | SDHA | 6389 | succinate dehydrogenase complex, subunit A, flavoprotein (Fp) | Leukoencephalopathy, progressive |
Human | CXCL12 | 6387 | chemokine (C-X-C motif) ligand 12 | RANTES and SDF1 were associated with patients suffering from leukoencephalopathies |
Human | CCL5 | 6352 | chemokine (C-C motif) ligand 5 | The RANTES -403 G/A polymorphism was significantly associated with non-determined leukoencephalopathy |
Human | NOTCH3 | 4854 | notch 3 | Title:Myocardial infarction in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).|Association:Not Found|Conclusion:Not Found |
Human | MCL1 | 4170 | myeloid cell leukemia sequence 1 (BCL2-related) | Mutations also dramatically decrease the levels of MLC1 in cells from megalencephalic leukoencephalopathy with subcortical cysts patients |
Human | LMNB1 | 4001 | lamin B1 | Leukoencephalopathy, diffuse Neuropathologic findings include leukoencephalopathy, predominantly in the frontal and parietal lobes duplication of the lamin B1 gene (LMNB1) has recently been described in a rare form of autosomal dominant adult-onset leukoencephalopathy |
Human | EIF2B1 | 1967 | eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa | Leukoencephalopathy, severe |
Human | TYMP | 1890 | thymidine phosphorylase | |
Human | CCR5 | 1234 | chemokine (C-C motif) receptor 5 (gene/pseudogene) | neither CCR5 nor CCR2 polymorphisms showed peculiar segregation with progressive multifocal leukoencephalopathy and/or non-determined leukoencephalopathy |
Human | AUH | 549 | AU RNA binding protein/enoyl-CoA hydratase | |
Human | JAG1 | 182 | jagged 1 | absence of correlation between mutations in specific JAG1 gene exons and clinical features in patients with leukoencephalopathy CADASIL-like phenotype |