ONTOLOGY REPORT - ANNOTATIONS


Term:Leukoencephalopathies
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Accession:DOID:9002704 term browser browse the term
Definition:Any of various diseases affecting the white matter of the central nervous system.
Synonyms:exact_synonym: CACH Syndromes;   CACH VWM Syndrome;   CACH VWM Syndromes;   CACH syndrome;   Childhood Ataxia with Diffuse Central Nervous System Hypomyelination;   Hypomyelination of the central nervous system;   Leukoencephalopathy;   Myelinosis Centralis Diffusa;   Myelinosis Centralis Diffusas;   White Matter Disease;   white matter diseases
 primary_id: MESH:D056784
 alt_id: OMIA:000526;   RDO:0001248
For additional species annotation, visit the Alliance of Genome Resources.


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Leukoencephalopathies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh7a1 aldehyde dehydrogenase 7 family, member A1 JBrowse link 18 51,619,007 51,651,267 RGD:8554872
G Bdnf brain-derived neurotrophic factor JBrowse link 3 100,768,637 100,819,216 RGD:10045369
G Cdkn1b cyclin-dependent kinase inhibitor 1B JBrowse link 4 168,689,043 168,694,159 RGD:10045369
G Csf1r colony stimulating factor 1 receptor JBrowse link 18 56,414,493 56,458,300 RGD:11554173
G Dpyd dihydropyrimidine dehydrogenase JBrowse link 2 221,823,692 222,694,627 RGD:11554173
G Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon JBrowse link 11 84,080,273 84,090,259 RGD:8554872
G Kmt2e lysine methyltransferase 2E JBrowse link 4 8,187,751 8,255,578 RGD:8554872
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:11554173
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase JBrowse link 17 66,210,444 66,295,014 RGD:11554173
G Scn8a sodium voltage-gated channel alpha subunit 8 JBrowse link 7 142,575,629 142,683,659 RGD:8554872
G Scp2 sterol carrier protein 2 JBrowse link 5 127,647,934 127,735,703 RGD:11554173
G Sdhb succinate dehydrogenase complex iron sulfur subunit B JBrowse link 5 159,484,378 159,505,063 RGD:8554872
G Spp1 secreted phosphoprotein 1 JBrowse link 14 6,673,686 6,679,965 RGD:11554173
G Tcn2 transcobalamin 2 JBrowse link 14 84,173,992 84,189,299 RGD:11554173
G Vps11 VPS11 core subunit of CORVET and HOPS complexes JBrowse link 8 48,677,492 48,692,295 RGD:8554872
acute disseminated encephalomyelitis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:8157598
G RT1-Bb RT1 class II, locus Bb JBrowse link 20 4,043,726 4,049,367 RGD:5147662
G RT1-Db1 RT1 class II, locus Db1 JBrowse link 20 4,087,621 4,097,190 RGD:5147662
Acute Experimental Autoimmune Encephalomyelitis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mag myelin-associated glycoprotein JBrowse link 1 89,345,325 89,360,905 RGD:9685300
adult-onset autosomal dominant demyelinating leukodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmnb1 lamin B1 JBrowse link 18 51,785,111 51,822,264 RGD:10044243
RGD:8554872
RGD:7240710
Alpers syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aqp4 aquaporin 4 JBrowse link 18 6,766,009 6,782,757 RGD:5148026
G Edar ectodysplasin-A receptor JBrowse link 20 28,179,132 28,263,092 RGD:8554872
G Fanci FA complementation group I JBrowse link 1 141,116,565 141,172,997 RGD:8554872
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8694184
RGD:8554872
RGD:11554173
RGD:8694317
RGD:8694284
G Ranbp2 RAN binding protein 2 JBrowse link 20
20
28,027,054
28,365,538
28,076,664
28,375,676
RGD:8554872
CADASIL term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Htra1 HtrA serine peptidase 1 JBrowse link 1 201,499,067 201,548,508 RGD:11554173
G Notch3 notch receptor 3 JBrowse link 7 14,138,495 14,189,688 RGD:8554872
RGD:11554173
CADASIL 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Notch3 notch receptor 3 JBrowse link 7 14,138,495 14,189,688 RGD:7240710
RGD:8554872
CADASIL 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Htra1 HtrA serine peptidase 1 JBrowse link 1 201,499,067 201,548,508 RGD:8554872
RGD:7240710
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Htra1 HtrA serine peptidase 1 JBrowse link 1 201,499,067 201,548,508 RGD:7240710
RGD:8554872
Cerebroretinal Microangiopathy with Calcifications and Cysts term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctc1 CST telomere replication complex component 1 JBrowse link 10 55,596,172 55,616,873 RGD:8554872
RGD:7240710
G Stn1 STN1 subunit of CST complex JBrowse link 1 267,281,786 267,315,714 RGD:11554173
Cerebroretinal Microangiopathy with Calcifications and Cysts 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Stn1 STN1 subunit of CST complex JBrowse link 1 267,281,786 267,315,714 RGD:8554872
RGD:7240710
Chronic Relapsing Experimental Autoimmune Encephalomyelitis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccl2 C-C motif chemokine ligand 2 JBrowse link 10 69,412,065 69,413,863 RGD:8655962
G Serpine1 serpin family E member 1 JBrowse link 12 22,641,104 22,651,482 RGD:13208507
COL4A1-related familial vascular leukoencephalopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col4a1 collagen type IV alpha 1 chain JBrowse link 16 83,522,162 83,632,153 RGD:8554872
RGD:7240710
G Col4a2 collagen type IV alpha 2 chain JBrowse link 16 83,386,388 83,522,169 RGD:8554872
Combined Oxidative Phosphorylation Deficiency 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ears2 glutamyl-tRNA synthetase 2, mitochondrial JBrowse link 1 191,997,512 192,025,350 RGD:7240710
RGD:8554872
Combined Saposin Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdh23 cadherin-related 23 JBrowse link 20 29,857,018 30,263,758 RGD:8554872
G Psap prosaposin JBrowse link 20 29,831,302 29,856,876 RGD:7240710
RGD:8554872
Cystic Leukoencephalopathy without Megalencephaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ndufa2 NADH:ubiquinone oxidoreductase subunit A2 JBrowse link 18 29,585,671 29,587,760 RGD:8554872
G Rnaset2 ribonuclease T2 JBrowse link 1 53,174,879 53,192,048 RGD:7240710
RGD:8554872
G Tmco6 transmembrane and coiled-coil domains 6 JBrowse link 18 29,579,145 29,585,740 RGD:8554872
early infantile epileptic encephalopathy 39 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc25a12 solute carrier family 25 member 12 JBrowse link 3 57,881,951 57,998,214 RGD:7240710
RGD:8554872
Experimental Autoimmune Encephalomyelitis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G A2m alpha-2-macroglobulin JBrowse link 4 154,309,426 154,359,138 RGD:10046021
G Adam17 ADAM metallopeptidase domain 17 JBrowse link 6 43,400,525 43,448,280 RGD:1559178
G Adam8 ADAM metallopeptidase domain 8 JBrowse link 1 212,317,510 212,332,895 RGD:2325244
G Aif1 allograft inflammatory factor 1 JBrowse link 20 5,161,350 5,167,176 RGD:2313022
G Akap12 A-kinase anchoring protein 12 JBrowse link 1 40,816,130 40,906,582 RGD:14348972
G Alox15 arachidonate 15-lipoxygenase JBrowse link 10 56,953,692 56,962,145 RGD:5509618
G Amigo2 adhesion molecule with Ig like domain 2 JBrowse link 7 138,704,124 138,707,221 RGD:14392778
G Anxa1 annexin A1 JBrowse link 1 237,893,983 237,910,002 RGD:2306942
G Apoe apolipoprotein E JBrowse link 1 80,612,894 80,616,820 RGD:13703134
G Aqp4 aquaporin 4 JBrowse link 18 6,766,009 6,782,757 RGD:5148015
RGD:8696030
RGD:5490117
RGD:5490116
G B2m beta-2 microglobulin JBrowse link 3 114,087,287 114,093,311 RGD:6482690
G B4galt6 beta-1,4-galactosyltransferase 6 JBrowse link 18 15,462,913 15,525,584 RGD:14390079
G Bdnf brain-derived neurotrophic factor JBrowse link 3 100,768,637 100,819,216 RGD:10059360
G C3 complement C3 JBrowse link 9 9,721,137 9,747,084 RGD:7175513
G C6 complement C6 JBrowse link 2 54,460,333 54,533,801 RGD:625607
G Cacna1b calcium voltage-gated channel subunit alpha1 B JBrowse link 3 1,740,026 1,924,959 RGD:1580151
G Calca calcitonin-related polypeptide alpha JBrowse link 1 184,184,018 184,188,922 RGD:5684360
G Casp3 caspase 3 JBrowse link 16 48,845,011 48,863,249 RGD:2311436
G Casp8 caspase 8 JBrowse link 9 65,614,142 65,662,624 RGD:2311436
G Casp9 caspase 9 JBrowse link 5 160,356,211 160,373,774 RGD:2311436
G Cav3 caveolin 3 JBrowse link 4 144,382,945 144,398,919 RGD:1582168
G Cblb Cbl proto-oncogene B JBrowse link 11 51,037,383 51,202,761 RGD:11554173
G Ccl1 C-C motif chemokine ligand 1 JBrowse link 10 69,534,976 69,537,836 RGD:4145472
G Ccl11 C-C motif chemokine ligand 11 JBrowse link 10 69,434,965 69,439,566 RGD:4145472
G Ccl2 C-C motif chemokine ligand 2 JBrowse link 10 69,412,065 69,413,863 RGD:2307114
RGD:4145472
RGD:8548888
G Ccl3 C-C motif chemokine ligand 3 JBrowse link 10 70,869,516 70,871,066 RGD:2307114
G Ccl5 C-C motif chemokine ligand 5 JBrowse link 10 70,739,764 70,744,303 RGD:4890027
RGD:2307114
G Ccr1 C-C motif chemokine receptor 1 JBrowse link 8 132,996,646 133,002,201 RGD:5688165
RGD:5688167
G Ccr2 C-C motif chemokine receptor 2 RGD:632391
G Ccr3 C-C motif chemokine receptor 3 JBrowse link 8 133,026,539 133,040,999 RGD:6893394
G Ccr5 C-C motif chemokine receptor 5 JBrowse link 8 133,192,398 133,215,599 RGD:4890436
G Cd28 Cd28 molecule JBrowse link 9 67,546,408 67,573,858 RGD:2307203
G Cd4 Cd4 molecule JBrowse link 4 157,381,862 157,408,357 RGD:10058963
RGD:10058968
G Cd80 Cd80 molecule JBrowse link 11 64,815,201 64,855,293 RGD:6902906
G Cd86 CD86 molecule JBrowse link 11 67,060,305 67,117,990 RGD:4892227
RGD:4892207
G Ciita class II, major histocompatibility complex, transactivator JBrowse link 10 5,212,621 5,260,641 RGD:1358146
G Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase JBrowse link 10 88,490,798 88,497,357 RGD:6483335
RGD:6483353
RGD:6483351
G Comt catechol-O-methyltransferase JBrowse link 11 86,715,981 86,735,630 RGD:13450949
G Cpb2 carboxypeptidase B2 JBrowse link 15 57,290,849 57,339,762 RGD:7243111
G Cspg4 chondroitin sulfate proteoglycan 4 JBrowse link 8 61,532,465 61,567,510 RGD:5686852
RGD:5686863
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 JBrowse link 9 67,699,397 67,706,068 RGD:6902906
G Ctsc cathepsin C JBrowse link 1 151,918,514 151,949,979 RGD:1599653
G Ctss cathepsin S JBrowse link 2 197,655,780 197,679,768 RGD:5686915
G Cx3cl1 C-X3-C motif chemokine ligand 1 JBrowse link 19 10,644,267 10,654,861 RGD:4891973
G Cx3cr1 C-X3-C motif chemokine receptor 1 JBrowse link 8 128,740,756 128,754,514 RGD:4891973
RGD:9491767
G Cxcr2 C-X-C motif chemokine receptor 2 JBrowse link 9 81,427,275 81,435,065 RGD:7257694
G Cxcr3 C-X-C motif chemokine receptor 3 JBrowse link X 71,614,346 71,616,997 RGD:5135506
G Dab2 DAB adaptor protein 2 JBrowse link 2 55,747,353 55,768,848 RGD:7243155
G Dll1 delta like canonical Notch ligand 1 JBrowse link 1 57,318,621 57,326,732 RGD:6482235
G Dusp10 dual specificity phosphatase 10 JBrowse link 13 104,284,660 104,321,455 RGD:7775013
G Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 JBrowse link 1 259,692,020 259,818,922 RGD:9685491
G Epo erythropoietin JBrowse link 12 22,274,828 22,278,268 RGD:11554173
G Esr2 estrogen receptor 2 JBrowse link 6 99,163,953 99,214,711 RGD:5508732
RGD:5508735
G Faslg Fas ligand JBrowse link 13 79,696,811 79,717,581 RGD:12903984
G Fcgr2a Fc fragment of IgG receptor IIa JBrowse link 13 91,146,878 91,163,691 RGD:5508383
G Fgf2 fibroblast growth factor 2 JBrowse link 2 124,081,072 124,134,133 RGD:8655647
RGD:9831448
G Flt1 FMS-related tyrosine kinase 1 JBrowse link 12 9,033,993 9,205,886 RGD:10402153
G Foxo3 forkhead box O3 JBrowse link 20 46,428,078 46,519,156 RGD:11554173
G Ghrh growth hormone releasing hormone JBrowse link 3 153,449,124 153,468,794 RGD:5687168
G Ghrl ghrelin and obestatin prepropeptide JBrowse link 4 145,674,157 145,678,066 RGD:12905041
G Gjc2 gap junction protein, gamma 2 JBrowse link 10 45,526,740 45,535,520 RGD:13208593
G Gli1 GLI family zinc finger 1 JBrowse link 7 70,620,794 70,633,171 RGD:12801440
G Glud1 glutamate dehydrogenase 1 JBrowse link 16 10,661,486 10,695,557 RGD:6484657
G Havcr2 hepatitis A virus cellular receptor 2 JBrowse link 10 31,561,838 31,590,624 RGD:9686086
RGD:9686113
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase JBrowse link 2 27,480,224 27,500,654 RGD:5508469
RGD:5508476
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:7987912
RGD:10755692
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:6483353
G Il10 interleukin 10 JBrowse link 13 47,738,933 47,743,392 RGD:7364993
G Il10ra interleukin 10 receptor subunit alpha JBrowse link 8 49,558,062 49,573,891 RGD:2316323
G Il12a interleukin 12A JBrowse link 2 165,076,945 165,083,996 RGD:724447
G Il12b interleukin 12B JBrowse link 10 30,034,447 30,048,774 RGD:4831840
G Il13 interleukin 13 JBrowse link 10 38,982,909 38,985,466 RGD:5684366
RGD:5684367
G Il16 interleukin 16 JBrowse link 1 145,781,923 145,881,538 RGD:5024940
G Il17a interleukin 17A JBrowse link 9 26,841,299 26,844,786 RGD:4831840
RGD:9212317
RGD:4888522
RGD:4889113
G Il18 interleukin 18 JBrowse link 8 55,009,666 55,016,286 RGD:4889543
RGD:4889542
G Il18r1 interleukin 18 receptor 1 JBrowse link 9 47,184,404 47,217,403 RGD:2311529
G Il1rn interleukin 1 receptor antagonist JBrowse link 3 1,449,778 1,468,624 RGD:8551836
G Il21 interleukin 21 JBrowse link 2 123,965,021 123,972,356 RGD:5147399
G Il21r interleukin 21 receptor JBrowse link 1 196,996,405 197,024,185 RGD:6892939
RGD:6892940
G Il22 interleukin 22 JBrowse link 7 61,236,037 61,240,502 RGD:2311529
G Il2ra interleukin 2 receptor subunit alpha JBrowse link 17 70,500,672 70,547,929 RGD:2311529
G Il4 interleukin 4 JBrowse link 10 38,963,979 38,969,531 RGD:7829778
RGD:8142395
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:2307412
RGD:12791289
G Itga4 integrin subunit alpha 4 JBrowse link 3 66,178,745 66,265,547 RGD:9698418
RGD:9698436
G Jag1 jagged canonical Notch ligand 1 JBrowse link 3 130,079,361 130,114,781 RGD:6482235
G Jak2 Janus kinase 2 JBrowse link 1 247,398,667 247,457,521 RGD:6483041
G Jak3 Janus kinase 3 JBrowse link 16 20,107,471 20,120,678 RGD:11533939
G Kdr kinase insert domain receptor JBrowse link 14 34,727,677 34,787,127 RGD:5684404
G Kit KIT proto-oncogene receptor tyrosine kinase JBrowse link 14 35,072,131 35,149,638 RGD:12910744
G Lrp1 LDL receptor related protein 1 JBrowse link 7 70,846,313 70,927,028 RGD:13800552
G Lta lymphotoxin alpha JBrowse link 20 4,851,889 4,854,677 RGD:1625038
RGD:4143220
G Mapt microtubule-associated protein tau JBrowse link 10 92,289,002 92,386,517 RGD:1358431
G Mbp myelin basic protein JBrowse link 18 79,326,738 79,437,310 RGD:7349334
RGD:11554173
G Mdk midkine JBrowse link 3 80,841,003 80,843,895 RGD:9831448
G Mmp2 matrix metallopeptidase 2 JBrowse link 19 15,542,771 15,570,589 RGD:2325703
G Mmp7 matrix metallopeptidase 7 JBrowse link 8 5,893,253 5,900,965 RGD:8547909
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:8547909
RGD:13204801
RGD:13204762
RGD:8547936
G Mog myelin oligodendrocyte glycoprotein JBrowse link 20 2,003,871 2,014,284 RGD:9685372
RGD:11554173
RGD:9685375
RGD:9685373
G Mt1 metallothionein 1 JBrowse link 19 11,301,991 11,303,007 RGD:6484112
G Mt2A metallothionein 2A JBrowse link 19 11,307,966 11,308,740 RGD:6484112
G Mt3 metallothionein 3 JBrowse link 19 11,324,708 11,326,112 RGD:6484112
G Nefl neurofilament light JBrowse link 15 44,799,378 44,803,251 RGD:2299007
G Nfe2l2 nuclear factor, erythroid 2-like 2 JBrowse link 3 62,497,568 62,525,146 RGD:11554173
G Ngf nerve growth factor JBrowse link 2 204,886,158 204,939,523 RGD:5508386
G Ngfr nerve growth factor receptor JBrowse link 10 83,389,828 83,408,061 RGD:5508312
RGD:5508386
G Nos2 nitric oxide synthase 2 JBrowse link 10 66,188,290 66,221,621 RGD:5509069
G Nr1h2 nuclear receptor subfamily 1, group H, member 2 JBrowse link 1 100,554,577 100,559,896 RGD:6480877
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 JBrowse link 18 31,728,373 32,704,022 RGD:4892331
G Ntrk1 neurotrophic receptor tyrosine kinase 1 JBrowse link 2 187,143,568 187,160,373 RGD:5684777
G Pdgfb platelet derived growth factor subunit B JBrowse link 7 121,215,458 121,233,092 RGD:11080975
G Pdgfra platelet derived growth factor receptor alpha JBrowse link 14 35,527,926 35,581,130 RGD:11080975
G Pdgfrb platelet derived growth factor receptor beta JBrowse link 18 56,364,586 56,406,381 RGD:11080975
G Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma JBrowse link 6 51,465,696 51,501,234 RGD:6482686
G Ppara peroxisome proliferator activated receptor alpha JBrowse link 7 126,618,872 126,687,282 RGD:11554173
G Prf1 perforin 1 JBrowse link 20 30,915,294 30,920,804 RGD:6482806
G Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 JBrowse link 2 54,857,688 54,893,404 RGD:6484540
G Ptgs1 prostaglandin-endoperoxide synthase 1 JBrowse link 3 15,560,685 15,582,339 RGD:5688149
RGD:5688250
G Ptgs2 prostaglandin-endoperoxide synthase 2 JBrowse link 13 67,351,230 67,356,920 RGD:5688149
RGD:5688250
G Ptn pleiotrophin JBrowse link 4 64,239,156 64,330,996 RGD:9831448
G Qk quaking JBrowse link 1 50,983,647 51,050,692 RGD:10045997
G Rangrf RAN guanine nucleotide release factor JBrowse link 10 55,559,049 55,560,420 RGD:6771380
G Rhoa ras homolog family member A JBrowse link 8 117,082,440 117,116,244 RGD:2298887
G RT1-Ba RT1 class II, locus Ba JBrowse link 20 4,066,133 4,070,726 RGD:5147622
RGD:5147639
RGD:5147666
G RT1-Bb RT1 class II, locus Bb JBrowse link 20 4,043,726 4,049,367 RGD:5147639
RGD:5147666
RGD:5147647
G RT1-Da RT1 class II, locus Da JBrowse link 20 4,127,644 4,132,616 RGD:5490166
G RT1-Db1 RT1 class II, locus Db1 JBrowse link 20 4,087,621 4,097,190 RGD:5147647
G Serpine1 serpin family E member 1 JBrowse link 12 22,641,104 22,651,482 RGD:13208549
G Shh sonic hedgehog signaling molecule JBrowse link 4 718,538 727,691 RGD:12801423
RGD:12801440
G Sirt1 sirtuin 1 JBrowse link 20 26,831,971 26,851,587 RGD:11554173
G Slpi secretory leukocyte peptidase inhibitor JBrowse link 3 160,799,979 160,802,228 RGD:9999395
G Sncb synuclein, beta JBrowse link 17 10,384,472 10,392,776 RGD:730073
G Srsf9 serine and arginine rich splicing factor 9 JBrowse link 12 47,039,714 47,046,022 RGD:11040805
G Stat1 signal transducer and activator of transcription 1 JBrowse link 9 54,287,540 54,327,958 RGD:6483041
G Stat3 signal transducer and activator of transcription 3 JBrowse link 10 88,790,401 88,842,263 RGD:6483041
RGD:6892946
G Stat4 signal transducer and activator of transcription 4 JBrowse link 9 54,340,649 54,457,753 RGD:7207888
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:2302088
G Tgfb2 transforming growth factor, beta 2 JBrowse link 13 105,039,639 105,142,010 RGD:2302088
G Timp3 TIMP metallopeptidase inhibitor 3 JBrowse link 7 23,543,125 23,594,170 RGD:1559178
G Tlr2 toll-like receptor 2 JBrowse link 2 182,840,171 182,846,061 RGD:2312575
G Tlr4 toll-like receptor 4 JBrowse link 5 82,587,424 82,601,056 RGD:2312575
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:12904661
G Vcam1 vascular cell adhesion molecule 1 JBrowse link 2 219,071,193 219,090,931 RGD:1580348
G Vdr vitamin D receptor JBrowse link 7 139,344,452 139,394,138 RGD:8158064
RGD:13210791
G Vegfa vascular endothelial growth factor A JBrowse link 9 17,340,341 17,355,681 RGD:634258
RGD:7421596
G Vip vasoactive intestinal peptide JBrowse link 1 42,169,307 42,177,582 RGD:5685386
Hereditary Diffuse Leukoencephalopathy with Spheroids term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Csf1r colony stimulating factor 1 receptor JBrowse link 18 56,414,493 56,458,300 RGD:8554872
RGD:7240710
hypomyelinating leukodystrophy 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pycr2 pyrroline-5-carboxylate reductase 2 JBrowse link 13 99,184,624 99,188,418 RGD:7240710
RGD:8554872
hypomyelinating leukodystrophy 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polr1c RNA polymerase I and III subunit C JBrowse link 9 17,120,759 17,124,871 RGD:7240710
RGD:8554872
hypomyelinating leukodystrophy 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vps11 VPS11 core subunit of CORVET and HOPS complexes JBrowse link 8 48,677,492 48,692,295 RGD:8554872
RGD:7240710
hypomyelinating leukodystrophy 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hikeshi Hikeshi, heat shock protein nuclear import factor JBrowse link 1 154,147,098 154,170,429 RGD:8554872
RGD:7240710
hypomyelinating leukodystrophy 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ufm1 ubiquitin-fold modifier 1 JBrowse link 2 143,096,268 143,104,412 RGD:8554872
RGD:7240710
Hypomyelinating Leukodystrophy 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eprs glutamyl-prolyl-tRNA synthetase JBrowse link 13 103,300,911 103,371,651 RGD:8554872
RGD:7240710
Hypomyelinating Leukodystrophy 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem106b transmembrane protein 106B JBrowse link 4 39,517,679 39,534,491 RGD:8554872
RGD:7240710
Hypomyelinating Leukodystrophy 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aimp2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2 JBrowse link 12 12,738,784 12,748,345 RGD:8554872
RGD:7240710
hypomyelinating leukodystrophy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjc2 gap junction protein, gamma 2 JBrowse link 10 45,526,740 45,535,520 RGD:7240710
RGD:8554872
RGD:13208581
RGD:13208580
RGD:13208533
RGD:13208526
RGD:13208525
RGD:11554173
G Snap29 synaptosome associated protein 29 JBrowse link 11 87,827,633 87,858,107 RGD:8554872
hypomyelinating leukodystrophy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aimp1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 JBrowse link 2 237,727,782 237,751,327 RGD:7240710
RGD:8554872
hypomyelinating leukodystrophy 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hspd1 heat shock protein family D (Hsp60) member 1 JBrowse link 9 61,680,529 61,691,202 RGD:7240710
RGD:8554872
RGD:12910473
RGD:11554173
G Polr3a RNA polymerase III subunit A JBrowse link 16 717,821 756,002 RGD:8554872
hypomyelinating leukodystrophy 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fam126a family with sequence similarity 126, member A JBrowse link 4 7,661,710 7,770,179 RGD:7240710
RGD:8554872
hypomyelinating leukodystrophy 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tubb4a tubulin, beta 4A class IVa JBrowse link 9 9,961,020 9,968,420 RGD:8554872
RGD:7240710
hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:8554872
G Mylk myosin light chain kinase JBrowse link 11 69,013,060 69,260,039 RGD:8554872
G Polr3a RNA polymerase III subunit A JBrowse link 16 717,821 756,002 RGD:7240710
RGD:8554872
G Polr3b RNA polymerase III subunit B JBrowse link 7 24,745,051 24,851,227 RGD:8554872
RGD:11554173
G Rps24 ribosomal protein S24 JBrowse link 16 757,390 762,091 RGD:8554872
G Scn1a sodium voltage-gated channel alpha subunit 1 JBrowse link 3 52,388,811 52,533,365 RGD:8554872
G Ski SKI proto-oncogene JBrowse link 5 172,556,196 172,623,878 RGD:8554872
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872
hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Med12 mediator complex subunit 12 JBrowse link X 71,174,653 71,197,812 RGD:8554872
G Polr3b RNA polymerase III subunit B JBrowse link 7 24,745,051 24,851,227 RGD:7240710
RGD:8554872
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872
hypomyelinating leukodystrophy 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rars arginyl-tRNA synthetase JBrowse link 10 20,633,630 20,658,074 RGD:7240710
RGD:8554872
Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dars aspartyl-tRNA synthetase JBrowse link 13 45,074,067 45,127,815 RGD:7240710
RGD:8554872
Krabbe disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdh23 cadherin-related 23 JBrowse link 20 29,857,018 30,263,758 RGD:8554872
G Galc galactosylceramidase JBrowse link 6 122,177,195 122,239,411 RGD:7240710
RGD:8554872
G Psap prosaposin JBrowse link 20 29,831,302 29,856,876 RGD:8554872
RGD:13592920
Krabbe Disease, Atypical, due to Saposin A Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Psap prosaposin JBrowse link 20 29,831,302 29,856,876 RGD:7240710
RGD:8554872
Leukoencephalopathy Brain Calcifications and Cysts term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem107 transmembrane protein 107 JBrowse link 10 55,653,694 55,656,270 RGD:8554872
Leukoencephalopathy with Ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clcn2 chloride voltage-gated channel 2 JBrowse link 11 82,862,664 82,876,165 RGD:7240710
RGD:8554872
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) JBrowse link 13 78,857,638 78,885,464 RGD:7240710
RGD:8554872
Leukoencephalopathy with Dystonia and Motor Neuropathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scp2 sterol carrier protein 2 JBrowse link 5 127,647,934 127,735,703 RGD:7240710
RGD:8554872
leukoencephalopathy with vanishing white matter term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eif2b1 eukaryotic translation initiation factor 2B subunit alpha JBrowse link 12 37,444,136 37,452,391 RGD:7240710
RGD:8554872
G Eif2b2 eukaryotic translation initiation factor 2B subunit beta JBrowse link 6 109,044,830 109,051,254 RGD:734925
RGD:8554872
RGD:11554173
RGD:7240710
G Eif2b3 eukaryotic translation initiation factor 2B subunit gamma JBrowse link 5 135,882,946 135,949,276 RGD:7240710
RGD:8554872
G Eif2b4 eukaryotic translation initiation factor 2B subunit delta JBrowse link 6 26,546,917 26,552,474 RGD:7240710
RGD:8554872
RGD:11554173
G Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon JBrowse link 11 84,080,273 84,090,259 RGD:734925
RGD:8554872
RGD:11554173
RGD:7240710
G Gtf2h3 general transcription factor IIH subunit 3 JBrowse link 12 37,427,556 37,444,027 RGD:8554872
G Mlh3 mutL homolog 3 JBrowse link 6 109,059,386 109,095,876 RGD:8554872
megalencephalic leukoencephalopathy with subcortical cysts term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hepacam hepatic and glial cell adhesion molecule JBrowse link 8 39,848,264 39,866,969 RGD:8554872
RGD:11554173
G Mlc1 modulator of VRAC current 1 JBrowse link 7 129,949,984 129,970,314 RGD:8554872
RGD:11554173
megalencephalic leukoencephalopathy with subcortical cysts 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hepacam hepatic and glial cell adhesion molecule JBrowse link 8 39,848,264 39,866,969 RGD:13592920
RGD:8554872
G Mlc1 modulator of VRAC current 1 JBrowse link 7 129,949,984 129,970,314 RGD:8554872
RGD:7240710
megalencephalic leukoencephalopathy with subcortical cysts 2A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hepacam hepatic and glial cell adhesion molecule JBrowse link 8 39,848,264 39,866,969 RGD:7240710
RGD:8554872
megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hepacam hepatic and glial cell adhesion molecule JBrowse link 8 39,848,264 39,866,969 RGD:7240710
RGD:8554872
metachromatic leukodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arsa arylsulfatase A JBrowse link 7 130,446,644 130,452,632 RGD:1358435
RGD:8554872
RGD:7240710
RGD:1358434
G Cdh23 cadherin-related 23 JBrowse link 20 29,857,018 30,263,758 RGD:8554872
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 80,293,574 80,307,334 RGD:8554872
G Mal mal, T-cell differentiation protein JBrowse link 3 120,209,647 120,233,655 RGD:1358761
G Psap prosaposin JBrowse link 20 29,831,302 29,856,876 RGD:8554872
RGD:13592920
G Scp2 sterol carrier protein 2 JBrowse link 5 127,647,934 127,735,703 RGD:8554872
Metachromatic Leukodystrophy due to Saposin B Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Psap prosaposin JBrowse link 20 29,831,302 29,856,876 RGD:7240710
RGD:8554872
mitochondrial DNA depletion syndrome 4A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fanci FA complementation group I JBrowse link 1 141,116,565 141,172,997 RGD:8554872
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8554872
RGD:7240710
Multi-Infarct Dementia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G App amyloid beta precursor protein JBrowse link 11 24,425,013 24,641,872 RGD:10054257
G Bax BCL2 associated X, apoptosis regulator JBrowse link 1 101,451,801 101,457,207 RGD:10054050
G Bcl2 BCL2, apoptosis regulator JBrowse link 13 26,605,426 26,769,374 RGD:10054050
G G6pd glucose-6-phosphate dehydrogenase JBrowse link X 156,274,800 156,293,935 RGD:10449132
G Il2 interleukin 2 JBrowse link 2 123,847,150 123,851,854 RGD:10047081
multiple sclerosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acan aggrecan JBrowse link 1 140,762,758 140,824,441 RGD:2315836
G Ache acetylcholinesterase JBrowse link 12 22,472,358 22,477,052 RGD:5688127
G Adipoq adiponectin, C1Q and collagen domain containing JBrowse link 11 81,330,845 81,344,488 RGD:5686885
G Ager advanced glycosylation end product-specific receptor JBrowse link 20 4,363,152 4,366,079 RGD:6767562
G Agt angiotensinogen JBrowse link 19 57,321,594 57,333,460 RGD:13432361
G Apoa1 apolipoprotein A1 JBrowse link 8 50,525,091 50,526,875 RGD:5508215
G Apoc2 apolipoprotein C2 JBrowse link 1 80,589,023 80,593,991 RGD:1358408
G Apoe apolipoprotein E JBrowse link 1 80,612,894 80,616,820 RGD:1331525
RGD:11554173
G B4galt5 beta-1,4-galactosyltransferase 5 JBrowse link 3 164,039,731 164,055,561 RGD:14390079
G B4galt6 beta-1,4-galactosyltransferase 6 JBrowse link 18 15,462,913 15,525,584 RGD:14390079
G Bche butyrylcholinesterase JBrowse link 2 171,104,476 171,196,186 RGD:11554173
G Bcl2l2 Bcl2-like 2 JBrowse link 15 33,543,774 33,549,165 RGD:14394512
G Bdnf brain-derived neurotrophic factor JBrowse link 3 100,768,637 100,819,216 RGD:5684915
G Cacna1b calcium voltage-gated channel subunit alpha1 B JBrowse link 3 1,740,026 1,924,959 RGD:1580151
G Casp1 caspase 1 JBrowse link 8 2,605,743 2,614,637 RGD:11554173
G Cav1 caveolin 1 JBrowse link 4 44,597,123 44,630,206 RGD:8661778
G Cblb Cbl proto-oncogene B JBrowse link 11 51,037,383 51,202,761 RGD:11554173
G Ccl1 C-C motif chemokine ligand 1 JBrowse link 10 69,534,976 69,537,836 RGD:4145472
G Ccl12 chemokine (C-C motif) ligand 12 JBrowse link 10 69,476,866 69,478,416 RGD:4145472
G Ccl2 C-C motif chemokine ligand 2 JBrowse link 10 69,412,065 69,413,863 RGD:4145472
G Ccl5 C-C motif chemokine ligand 5 JBrowse link 10 70,739,764 70,744,303 RGD:4890028
G Ccl7 C-C motif chemokine ligand 7 JBrowse link 10 69,423,083 69,424,933 RGD:6483814
RGD:6483818
G Ccr3 C-C motif chemokine receptor 3 JBrowse link 8 133,026,539 133,040,999 RGD:6892919
G Ccr5 C-C motif chemokine receptor 5 JBrowse link 8 133,192,398 133,215,599 RGD:1358460
RGD:8554872
RGD:8551829
G Cd24 CD24 molecule JBrowse link 20 48,335,540 48,340,847 RGD:1358462
G Cd28 Cd28 molecule JBrowse link 9 67,546,408 67,573,858 RGD:1358478
G Cd40 CD40 molecule JBrowse link 3 161,519,789 161,534,943 RGD:5490971
RGD:11554173
RGD:5490975
G Cd46 CD46 molecule JBrowse link 13 113,786,525 113,818,741 RGD:6483460
G Cd6 Cd6 molecule JBrowse link 1 226,848,399 226,887,259 RGD:11554173
G Cd86 CD86 molecule JBrowse link 11 67,060,305 67,117,990 RGD:11354964
G Cfh complement factor H JBrowse link 13 56,979,155 57,080,540 RGD:5684555
G Ciita class II, major histocompatibility complex, transactivator JBrowse link 10 5,212,621 5,260,641 RGD:5491175
RGD:1358146
RGD:5491189
G Cldn11 claudin 11 JBrowse link 2 115,823,541 115,836,846 RGD:11554173
G Clec16a C-type lectin domain containing 16A JBrowse link 10 5,002,196 5,196,914 RGD:5491175
RGD:11554173
G Cmpk2 cytidine/uridine monophosphate kinase 2 JBrowse link 6 45,683,242 45,694,824 RGD:5133255
G Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase JBrowse link 10 88,490,798 88,497,357 RGD:6483339
RGD:6483346
G Cnr1 cannabinoid receptor 1 JBrowse link 5 49,307,584 49,333,064 RGD:11554173
G Cntf ciliary neurotrophic factor JBrowse link 1 229,599,009 229,601,032 RGD:1626112
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:5688302
G Cst3 cystatin C JBrowse link 3 143,219,671 143,223,544 RGD:5686392
RGD:5686394
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 JBrowse link 9 67,699,397 67,706,068 RGD:2301975
RGD:7411672
RGD:1358538
G Ctsb cathepsin B JBrowse link 15 46,316,741 46,337,613 RGD:5686392
RGD:5686395
G Ctsh cathepsin H JBrowse link 8 97,439,155 97,458,293 RGD:5686392
G Ctsl cathepsin L JBrowse link 17 1,873,105 1,879,266 RGD:5686392
G Edn1 endothelin 1 JBrowse link 17 22,136,814 22,143,745 RGD:8661710
G Fas Fas cell surface death receptor JBrowse link 1 252,589,785 252,624,790 RGD:12903947
RGD:12903986
G Faslg Fas ligand JBrowse link 13 79,696,811 79,717,581 RGD:1358622
G Fcgr2a Fc fragment of IgG receptor IIa JBrowse link 13 91,146,878 91,163,691 RGD:5147977
G Fcgr3a Fc fragment of IgG receptor IIIa JBrowse link 13 89,385,775 89,396,047 RGD:5508375
G Gabra3 gamma-aminobutyric acid type A receptor alpha3 subunit JBrowse link X 152,414,332 152,642,607 RGD:1358628
G Gc GC, vitamin D binding protein JBrowse link 14 20,267,023 20,302,577 RGD:5509885
RGD:11554173
RGD:5509923
RGD:5509922
RGD:5509887
G Gli1 GLI family zinc finger 1 JBrowse link 7 70,620,794 70,633,171 RGD:12801440
G Grm8 glutamate metabotropic receptor 8 JBrowse link 4 54,474,344 55,409,526 RGD:6771187
G Grn granulin precursor JBrowse link 10 90,377,103 90,383,207 RGD:5509591
G Gstm1 glutathione S-transferase mu 1 JBrowse link 2 210,803,869 210,809,461 RGD:5490267
RGD:12792249
RGD:12792225
G Gstm3 glutathione S-transferase mu 3 JBrowse link 2 210,685,204 210,688,273 RGD:5490267
G Gstp1 glutathione S-transferase pi 1 JBrowse link 1 219,291,679 219,294,147 RGD:5490267
G Gstt1 glutathione S-transferase theta 1 JBrowse link 20 13,799,102 13,816,527 RGD:12792225
RGD:5490267
G H6pd hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) JBrowse link 5 166,994,683 167,030,441 RGD:6784513
G Hdac1 histone deacetylase 1 JBrowse link 5 147,716,664 147,743,723 RGD:9590131
G Hsp90ab1 heat shock protein 90 alpha family class B member 1 JBrowse link 9 17,817,791 17,823,163 RGD:5686803
G Hspa8 heat shock protein family A (Hsp70) member 8 JBrowse link 8 44,989,401 44,993,261 RGD:6480236
G Icam1 intercellular adhesion molecule 1 JBrowse link 8 22,035,287 22,047,049 RGD:11554173
G Ifnb1 interferon beta 1 JBrowse link 5 106,865,192 106,865,746 RGD:11554173
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:1358738
RGD:11554173
G Igf2 insulin-like growth factor 2 JBrowse link 1 215,828,102 215,839,081 RGD:5510017
G Il10 interleukin 10 JBrowse link 13 47,738,933 47,743,392 RGD:11554173
G Il12a interleukin 12A JBrowse link 2 165,076,945 165,083,996 RGD:11554173
G Il13 interleukin 13 JBrowse link 10 38,982,909 38,985,466 RGD:5684368
RGD:8549589
G Il17a interleukin 17A JBrowse link 9 26,841,299 26,844,786 RGD:8698672
RGD:11554173
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:1358741
RGD:11554173
G Il1rn interleukin 1 receptor antagonist JBrowse link 3 1,449,778 1,468,624 RGD:11554173
G Il21r interleukin 21 receptor JBrowse link 1 196,996,405 197,024,185 RGD:6892695
RGD:6892963
G Il23r interleukin 23 receptor JBrowse link 4 98,203,788 98,306,729 RGD:8549631
RGD:8549632
G Il2ra interleukin 2 receptor subunit alpha JBrowse link 17 70,500,672 70,547,929 RGD:2311526
RGD:11554173
G Il4 interleukin 4 JBrowse link 10 38,963,979 38,969,531 RGD:1358745
G Il4r interleukin 4 receptor JBrowse link 1 196,942,343 196,967,221 RGD:4890395
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:12791288
RGD:12792202
RGD:11079567
G Il7 interleukin 7 JBrowse link 2 96,427,884 96,474,979 RGD:11554173
G Il7r interleukin 7 receptor RGD:11554173
G Irf8 interferon regulatory factor 8 JBrowse link 19 54,314,859 54,336,643 RGD:11554173
G Jag1 jagged canonical Notch ligand 1 JBrowse link 3 130,079,361 130,114,781 RGD:6482233
RGD:6482240
G Kcnj10 potassium voltage-gated channel subfamily J member 10 JBrowse link 13 90,722,945 90,753,338 RGD:11554173
G Kif1b kinesin family member 1B JBrowse link 5 165,994,803 166,133,497 RGD:11554173
RGD:12738463
RGD:12738462
G Kif5a kinesin family member 5A JBrowse link 7 70,515,832 70,552,897 RGD:12793067
G Klk6 kallikrein related-peptidase 6 JBrowse link 1 99,762,195 99,769,486 RGD:2314867
G Lrch1 leucine rich repeats and calponin homology domain containing 1 JBrowse link 15 56,778,738 56,970,439 RGD:13592920
G Mag myelin-associated glycoprotein JBrowse link 1 89,345,325 89,360,905 RGD:9685292
G Mbp myelin basic protein JBrowse link 18 79,326,738 79,437,310 RGD:1358488
G Mcam melanoma cell adhesion molecule JBrowse link 8 48,472,824 48,481,005 RGD:11554173
G Mmp12 matrix metallopeptidase 12 JBrowse link 8 5,594,717 5,616,494 RGD:13204795
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:13204754
RGD:13204848
RGD:13204826
RGD:13204795
G Mog myelin oligodendrocyte glycoprotein JBrowse link 20 2,003,871 2,014,284 RGD:9685374
G Mphosph9 M-phase phosphoprotein 9 JBrowse link 12 37,700,282 37,766,487 RGD:2316985
G Mt-atp6 mitochondrially encoded ATP synthase 6 JBrowse link MT 7,919 8,599 RGD:5490259
RGD:5490263
G Mt-atp8 mitochondrially encoded ATP synthase 8 JBrowse link MT 7,758 7,961 RGD:5490263
G Mt-nd1 mitochondrially encoded NADH dehydrogenase 1 JBrowse link MT 2,740 3,694 RGD:5490252
G Mt-nd2 mitochondrially encoded NADH dehydrogenase 2 JBrowse link MT 3,904 4,942 RGD:5490259
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 JBrowse link 13 89,606,848 89,623,506 RGD:6482255
G Nectin2 nectin cell adhesion molecule 2 JBrowse link 1 80,631,449 80,666,617 RGD:6767558
RGD:6767565
G Ngfr nerve growth factor receptor JBrowse link 10 83,389,828 83,408,061 RGD:5508481
G Nlrp3 NLR family, pyrin domain containing 3 JBrowse link 10 45,884,324 45,918,290 RGD:11554173
G Notch4 notch receptor 4 JBrowse link 20 4,329,794 4,353,868 RGD:6480692
G Nr1h3 nuclear receptor subfamily 1, group H, member 3 JBrowse link 3 80,004,130 80,014,197 RGD:8554872
G P2rx7 purinergic receptor P2X 7 JBrowse link 12 39,353,613 39,396,042 RGD:11554173
G Pdcd1 programmed cell death 1 JBrowse link 9 101,305,742 101,319,937 RGD:7240710
RGD:8554872
G Phactr2 phosphatase and actin regulator 2 JBrowse link 1 7,352,050 7,633,991 RGD:6483093
G Pla2g7 phospholipase A2 group VII JBrowse link 9 19,935,754 19,978,013 RGD:6482783
G Pnmt phenylethanolamine-N-methyltransferase JBrowse link 10 86,340,893 86,342,501 RGD:1358561
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8694283
G Pomc proopiomelanocortin JBrowse link 6 28,382,937 28,388,771 RGD:11554173
G Prf1 perforin 1 JBrowse link 20 30,915,294 30,920,804 RGD:6482805
RGD:13592920
RGD:6482820
RGD:6482817
G Prkn parkin RBR E3 ubiquitin protein ligase JBrowse link 1 48,880,015 50,069,998 RGD:10412736
G Psmb9 proteasome subunit beta 9 JBrowse link 20 3,973,424 3,978,845 RGD:6483446
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 JBrowse link 2 206,342,066 206,390,348 RGD:6484550
G Ptprc protein tyrosine phosphatase, receptor type, C JBrowse link 13 55,061,561 55,174,150 RGD:1358566
G Rbpj recombination signal binding protein for immunoglobulin kappa J region JBrowse link 14 59,657,738 59,865,427 RGD:11554173
G Rgma repulsive guidance molecule BMP co-receptor a JBrowse link 1 134,699,053 134,742,512 RGD:6892695
G Rhoa ras homolog family member A JBrowse link 8 117,082,440 117,116,244 RGD:2298887
G RT1-Ba RT1 class II, locus Ba JBrowse link 20 4,066,133 4,070,726 RGD:5147555
G RT1-Bb RT1 class II, locus Bb JBrowse link 20 4,043,726 4,049,367 RGD:5147555
RGD:7421588
RGD:7240710
RGD:5147658
G RT1-Da RT1 class II, locus Da JBrowse link 20 4,127,644 4,132,616 RGD:5490202
RGD:11554173
RGD:5490204
G RT1-Db1 RT1 class II, locus Db1 JBrowse link 20 4,087,621 4,097,190 RGD:5147555
RGD:11554173
RGD:7240710
RGD:5147580
RGD:5147573
RGD:5147564
RGD:5147559
G Sele selectin E JBrowse link 13 82,355,234 82,365,323 RGD:11554173
G Sh2d2a SH2 domain containing 2A JBrowse link 2 187,218,851 187,225,000 RGD:1358573
G Shh sonic hedgehog signaling molecule JBrowse link 4 718,538 727,691 RGD:12801440
G Slc11a1 solute carrier family 11 member 1 JBrowse link 9 81,655,590 81,666,697 RGD:5684937
RGD:11554173
RGD:5684960
G Spp1 secreted phosphoprotein 1 JBrowse link 14 6,673,686 6,679,965 RGD:1581329
RGD:1581472
G Stat4 signal transducer and activator of transcription 4 JBrowse link 9 54,340,649 54,457,753 RGD:11554173
G Tap2 transporter 2, ATP binding cassette subfamily B member JBrowse link 20 3,995,544 4,009,587 RGD:6482279
RGD:6482281
RGD:6482280
G Tlr4 toll-like receptor 4 JBrowse link 5 82,587,424 82,601,056 RGD:2312575
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:7401237
RGD:13592920
RGD:12904657
RGD:12904068
G Tnfaip3 TNF alpha induced protein 3 JBrowse link 1 14,401,103 14,416,369 RGD:11554173
G Tnfrsf1a TNF receptor superfamily member 1A JBrowse link 4 157,864,905 157,877,634 RGD:8661741
RGD:8554872
RGD:11554173
G Tnfsf14 TNF superfamily member 14 JBrowse link 9 9,761,363 9,765,461 RGD:11554173
G Tnfsf9 TNF superfamily member 9 JBrowse link 9 9,909,942 9,912,276 RGD:2317352
G Tyk2 tyrosine kinase 2 JBrowse link 8 22,118,224 22,149,807 RGD:11554173
G Vcam1 vascular cell adhesion molecule 1 JBrowse link 2 219,071,193 219,090,931 RGD:11554173
G Vdr vitamin D receptor JBrowse link 7 139,344,452 139,394,138 RGD:1331525
RGD:11554173
RGD:11530654
RGD:13210790
RGD:11353119
RGD:5147559
G Vegfa vascular endothelial growth factor A JBrowse link 9 17,340,341 17,355,681 RGD:634255
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nacc1 nucleus accumbens associated 1 JBrowse link 19 25,783,686 25,801,526 RGD:8554872
RGD:7240710
neuromyelitis optica term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aqp4 aquaporin 4 JBrowse link 18 6,766,009 6,782,757 RGD:5148024
RGD:11554173
RGD:8696034
RGD:8696033
RGD:8696032
RGD:8696026
RGD:8695993
RGD:5148032
G Cd59 CD59 molecule JBrowse link 3 94,010,481 94,028,660 RGD:13792592
G Cd59em1Ask CD59 molecule; CRISPR/Cas9 induced mutant1, Ask RGD:13792592
G Gfap glial fibrillary acidic protein JBrowse link 10 90,990,762 90,999,435 RGD:11554173
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:7829722
G Mbp myelin basic protein JBrowse link 18 79,326,738 79,437,310 RGD:11554173
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:8547883
G RT1-Bb RT1 class II, locus Bb JBrowse link 20 4,043,726 4,049,367 RGD:7421588
G RT1-Db1 RT1 class II, locus Db1 JBrowse link 20 4,087,621 4,097,190 RGD:5147590
G S100b S100 calcium binding protein B JBrowse link 20 13,130,633 13,142,856 RGD:5508767
Opticospinal Multiple Sclerosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aqp4 aquaporin 4 JBrowse link 18 6,766,009 6,782,757 RGD:8698645
Pelizaeus-Merzbacher disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjc2 gap junction protein, gamma 2 JBrowse link 10 45,526,740 45,535,520 RGD:8554872
G Lmnb1 lamin B1 JBrowse link 18 51,785,111 51,822,264 RGD:11554173
G Plp1 proteolipid protein 1 JBrowse link X 107,494,326 107,511,355 RGD:1358783
RGD:8554872
RGD:11554173
RGD:7240710
RGD:1358559
G Rab9b RAB9B, member RAS oncogene family JBrowse link X 107,531,404 107,542,510 RGD:8554872
Posterior Leukoencephalopathy Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:11554173
primary progressive multiple sclerosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamts14 ADAM metallopeptidase with thrombospondin type 1 motif, 14 JBrowse link 20 30,812,319 30,888,936 RGD:6771190
G Bche butyrylcholinesterase JBrowse link 2 171,104,476 171,196,186 RGD:5687690
G Cd274 CD274 molecule JBrowse link 1 247,519,890 247,539,659 RGD:6893669
G Gc GC, vitamin D binding protein JBrowse link 14 20,267,023 20,302,577 RGD:5509869
G Grn granulin precursor JBrowse link 10 90,377,103 90,383,207 RGD:5509591
RGD:5509596
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 JBrowse link 7 144,865,302 144,871,592 RGD:8554872
G Igfbp3 insulin-like growth factor binding protein 3 JBrowse link 14 87,457,647 87,465,374 RGD:1626118
G Il4r interleukin 4 receptor JBrowse link 1 196,942,343 196,967,221 RGD:1358313
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:13204808
G RT1-Bb RT1 class II, locus Bb JBrowse link 20 4,043,726 4,049,367 RGD:5147610
G RT1-Db1 RT1 class II, locus Db1 JBrowse link 20 4,087,621 4,097,190 RGD:5147610
G Shh sonic hedgehog signaling molecule JBrowse link 4 718,538 727,691 RGD:12801414
Progressive Encephalopathy, Early-Onset, with Brain Edema and/or Leukoencephalopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Naxe NAD(P)HX epimerase JBrowse link 2 187,424,319 187,426,410 RGD:8554872
Progressive Encephalopathy, Early-Onset, with Brain Edema and/or Leukoencephalopathy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Naxe NAD(P)HX epimerase JBrowse link 2 187,424,319 187,426,410 RGD:7240710
Progressive Encephalopathy, Early-Onset, with Brain Edema and/or Leukoencephalopathy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Naxd NAD(P)HX dehydratase JBrowse link 16 83,326,228 83,342,711 RGD:7240710
Progressive Leukoencephalopathy, with Ovarian Failure term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aars2 alanyl-tRNA synthetase 2, mitochondrial JBrowse link 9 17,869,301 17,881,762 RGD:7240710
RGD:8554872
Pseudoarylsulfatase A Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arsa arylsulfatase A JBrowse link 7 130,446,644 130,452,632 RGD:8554872
relapsing-remitting multiple sclerosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamts14 ADAM metallopeptidase with thrombospondin type 1 motif, 14 JBrowse link 20 30,812,319 30,888,936 RGD:6771190
G Apoa4 apolipoprotein A4 JBrowse link 8 50,536,983 50,539,371 RGD:5685649
G Apoe apolipoprotein E JBrowse link 1 80,612,894 80,616,820 RGD:11554173
G Cd36 CD36 molecule JBrowse link 4 14,150,309 14,191,498 RGD:6893496
G Cd80 Cd80 molecule JBrowse link 11 64,815,201 64,855,293 RGD:6893670
G Cspg4 chondroitin sulfate proteoglycan 4 JBrowse link 8 61,532,465 61,567,510 RGD:5686865
G Ctss cathepsin S JBrowse link 2 197,655,780 197,679,768 RGD:5687146
G Fas Fas cell surface death receptor JBrowse link 1 252,589,785 252,624,790 RGD:12903953
G Grn granulin precursor JBrowse link 10 90,377,103 90,383,207 RGD:5509591
G Havcr1 hepatitis A virus cellular receptor 1 JBrowse link 10 31,813,819 31,860,934 RGD:5128853
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 JBrowse link 7 144,865,302 144,871,592 RGD:8554872
G Hspa8 heat shock protein family A (Hsp70) member 8 JBrowse link 8 44,989,401 44,993,261 RGD:5688780
G Klc1 kinesin light chain 1 JBrowse link 6 136,330,151 136,373,716 RGD:5684008
G Mmp19 matrix metallopeptidase 19 JBrowse link 7 3,216,392 3,224,202 RGD:1642025
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:13204825
G Nod2 nucleotide-binding oligomerization domain containing 2 JBrowse link 19 19,342,061 19,389,366 RGD:13204725
G Nog noggin JBrowse link 10 76,811,759 76,813,386 RGD:12801480
G S100b S100 calcium binding protein B JBrowse link 20 13,130,633 13,142,856 RGD:5508822
G Serpine1 serpin family E member 1 JBrowse link 12 22,641,104 22,651,482 RGD:13208510
G Timp1 TIMP metallopeptidase inhibitor 1 JBrowse link X 1,364,771 1,369,451 RGD:13204825
Retinal Vasculopathy with Cerebral Leukodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trex1 three prime repair exonuclease 1 JBrowse link 8 117,796,127 117,797,427 RGD:7240710
RGD:8554872
Ribose 5-Phosphate Isomerase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rpia ribose 5-phosphate isomerase A JBrowse link 4 98,568,028 98,593,664 RGD:7240710
RGD:8554872
spastic ataxia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mars2 methionyl-tRNA synthetase 2, mitochondrial JBrowse link 9 64,434,814 64,437,730 RGD:7240710
RGD:8554872
Transverse Myelitis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aqp4 aquaporin 4 JBrowse link 18 6,766,009 6,782,757 RGD:5148008
RGD:8696028
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:7829722
G Vps37a VPS37A subunit of ESCRT-I JBrowse link 16 54,860,811 54,899,410 RGD:8554872
vascular dementia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Avp arginine vasopressin JBrowse link 3 123,117,482 123,119,460 RGD:2303174
G Bdnf brain-derived neurotrophic factor JBrowse link 3 100,768,637 100,819,216 RGD:10059369
G Cdk5 cyclin-dependent kinase 5 JBrowse link 4 7,282,945 7,287,427 RGD:13792766
G Eif4e eukaryotic translation initiation factor 4E JBrowse link 2 243,819,616 243,853,987 RGD:10401142
G Epo erythropoietin JBrowse link 12 22,274,828 22,278,268 RGD:10400891
G Fgfr1 Fibroblast growth factor receptor 1 JBrowse link 16 71,265,390 71,319,046 RGD:10402076
G Flt1 FMS-related tyrosine kinase 1 JBrowse link 12 9,033,993 9,205,886 RGD:10402076
G Gclm glutamate cysteine ligase, modifier subunit JBrowse link 2 225,827,504 225,847,876 RGD:10402374
G Gpx1 glutathione peroxidase 1 JBrowse link 8 117,117,430 117,118,528 RGD:11352822
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 JBrowse link 3 2,507,745 2,534,664 RGD:13792687
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A JBrowse link 10 5,707,806 6,123,568 RGD:13792687
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B JBrowse link 4 169,541,620 170,000,216 RGD:13792687
G Gsk3b glycogen synthase kinase 3 beta JBrowse link 11 65,060,884 65,208,842 RGD:13792766
G Hspa1a heat shock protein family A (Hsp70) member 1A JBrowse link 20 4,875,834 4,881,751 RGD:10402403
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:1598446
RGD:10045864
G Igf1r insulin-like growth factor 1 receptor JBrowse link 1 128,924,921 129,213,816 RGD:10045873
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:1626633
G Mapt microtubule-associated protein tau JBrowse link 10 92,289,002 92,386,517 RGD:13792766
G Mmp2 matrix metallopeptidase 2 JBrowse link 19 15,542,771 15,570,589 RGD:1582624
G Mtor mechanistic target of rapamycin kinase JBrowse link 5 165,263,813 165,373,967 RGD:10401142
G Pon2 paraoxonase 2 JBrowse link 4 30,344,705 30,380,119 RGD:1580219
G Rpgrip1l Rpgrip1-like JBrowse link 19 17,115,266 17,208,055 RGD:13204815
G Rps6 ribosomal protein S6 JBrowse link 5 105,197,821 105,200,681 RGD:11041644
G Sdhaf1 succinate dehydrogenase complex assembly factor 1 JBrowse link 1 88,779,476 88,780,425 RGD:11554173
G Snca synuclein alpha JBrowse link 4 90,782,412 90,883,236 RGD:6478792
G Sncg synuclein, gamma JBrowse link 16 10,722,110 10,726,648 RGD:6478792
G Srebf2 sterol regulatory element binding transcription factor 2 JBrowse link 7 123,381,082 123,438,605 RGD:1581412
G Sst somatostatin JBrowse link 11 80,358,172 80,359,449 RGD:2303174
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:13825254
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:2290557

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          brain disease 6418
            Leukoencephalopathies 431
              Adult-Onset Muscular Dystrophy with Leukoencephalopathy 0
              COL4A1-related familial vascular leukoencephalopathy 2
              Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 1
              Cerebroretinal Microangiopathy with Calcifications and Cysts + 2
              Combined Oxidative Phosphorylation Deficiency 12 1
              Cystic Leukoencephalopathy without Megalencephaly 3
              Demyelinating Autoimmune Diseases, CNS + 329
              Hereditary Central Nervous System Demyelinating Diseases + 40
              Hereditary Diffuse Leukoencephalopathy with Spheroids 1
              Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity 1
              Leukoencephalopathy Brain Calcifications and Cysts 1
              Leukoencephalopathy with Ataxia 1
              Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 1
              Leukoencephalopathy with Dystonia and Motor Neuropathy 1
              Leukoencephalopathy with Metaphyseal Chondrodysplasia 0
              Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia 0
              Mitochondrial Myopathy, Episodic, with or Without Optic Atrophy and Reversible Leukoencephalopathy 0
              Posterior Leukoencephalopathy Syndrome 1
              Progressive Encephalopathy, Early-Onset, with Brain Edema and/or Leukoencephalopathy + 2
              Progressive Leukoencephalopathy, with Ovarian Failure 1
              Ribose 5-Phosphate Isomerase Deficiency 1
              Telencephalic Leukoencephalopathy 0
              leukoencephalopathy with vanishing white matter 7
              progressive multifocal leukoencephalopathy 0
              spastic ataxia 3 1
              vascular dementia + 38
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.