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ONTOLOGY REPORT - ANNOTATIONS


Term:Leukoencephalopathy
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Accession:HP:0002352 term browser browse the term
Definition:This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells.
Comment:This feature can be demonstrated by magnetic resonance imaging or computer tomography.
Synonyms:alt_id: HP:0006838;   HP:0007073
 xref: MSH:D056784;   SNOMEDCT_US:22811006;   UMLS:C0270612


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Leukoencephalopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AARS2 alanyl-tRNA synthetase 2, mitochondrial JBrowse link 6 44,297,850 44,313,358 RGD:8699517
G AIFM1 apoptosis inducing factor mitochondria associated 1 JBrowse link X 130,129,362 130,165,887 RGD:8699517
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 JBrowse link 10 95,605,938 95,656,901 RGD:8699517
G AMPD2 adenosine monophosphate deaminase 2 JBrowse link 1 109,619,813 109,632,055 RGD:8699517
G AP4B1 adaptor related protein complex 4 subunit beta 1 JBrowse link 1 113,894,194 113,905,067 RGD:8699517
G AP4E1 adaptor related protein complex 4 subunit epsilon 1 JBrowse link 15 50,908,569 51,005,900 RGD:8699517
G AP4M1 adaptor related protein complex 4 subunit mu 1 JBrowse link 7 100,101,413 100,109,039 RGD:8699517
G AP4S1 adaptor related protein complex 4 subunit sigma 1 JBrowse link 14 31,025,106 31,096,450 RGD:8699517
G AP5Z1 adaptor related protein complex 5 subunit zeta 1 JBrowse link 7 4,775,623 4,794,397 RGD:8699517
G ARHGAP31 Rho GTPase activating protein 31 JBrowse link 3 119,294,289 119,420,714 RGD:8699517
G ARID2 AT-rich interaction domain 2 JBrowse link 12 45,729,706 45,908,037 RGD:8699517
G ARSA arylsulfatase A JBrowse link 22 50,622,754 50,628,152 RGD:8699517
G ATP13A2 ATPase cation transporting 13A2 JBrowse link 1 16,985,958 17,011,972 RGD:8699517
G AUH AU RNA binding methylglutaconyl-CoA hydratase JBrowse link 9 91,213,815 91,361,969 RGD:8699517
G B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 JBrowse link 1 235,440,654 235,504,481 RGD:8699517
G CDC42 cell division cycle 42 JBrowse link 1 22,052,709 22,101,360 RGD:8699517
G CLCN2 chloride voltage-gated channel 2 JBrowse link 3 184,346,185 184,361,605 RGD:8699517
G CLCN4 chloride voltage-gated channel 4 JBrowse link X 10,156,945 10,237,660 RGD:8699517
G CLN6 CLN6 transmembrane ER protein JBrowse link 15 68,206,992 68,229,728 RGD:8699517
G COA7 cytochrome c oxidase assembly factor 7 (putative) JBrowse link 1 52,684,449 52,698,347 RGD:8699517
G COA8 cytochrome c oxidase assembly factor 8 JBrowse link 14 103,562,960 103,590,899 RGD:8699517
G COL4A1 collagen type IV alpha 1 chain JBrowse link 13 110,148,963 110,307,157 RGD:8699517
G COLGALT1 collagen beta(1-O)galactosyltransferase 1 JBrowse link 19 17,555,649 17,583,159 RGD:8699517
G COX10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 JBrowse link 17 14,069,504 14,208,677 RGD:8699517
G COX14 cytochrome c oxidase assembly factor COX14 JBrowse link 12 50,112,236 50,120,453 RGD:8699517
G COX20 cytochrome c oxidase assembly factor COX20 JBrowse link 1 244,835,306 244,845,063 RGD:8699517
G COX6B1 cytochrome c oxidase subunit 6B1 JBrowse link 19 35,648,323 35,658,782 RGD:8699517
G COX8A cytochrome c oxidase subunit 8A JBrowse link 11 63,974,620 63,976,543 RGD:8699517
G CPLX1 complexin 1 JBrowse link 4 784,957 826,129 RGD:8699517
G CSF1R colony stimulating factor 1 receptor JBrowse link 5 150,053,291 150,113,372 RGD:8699517
G CTBP1 C-terminal binding protein 1 JBrowse link 4 1,211,444 1,250,355 RGD:8699517
G CTC1 CST telomere replication complex component 1 JBrowse link 17 8,224,815 8,248,079 RGD:8699517
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 JBrowse link 2 218,781,733 218,815,293 RGD:8699517
G DARS1 aspartyl-tRNA synthetase 1 JBrowse link 2 135,905,881 135,985,684 RGD:8699517
G DARS2 aspartyl-tRNA synthetase 2, mitochondrial JBrowse link 1 173,824,673 173,858,546 RGD:8699517
G DDHD2 DDHD domain containing 2 JBrowse link 8 38,231,491 38,273,922 RGD:8699517
G DEGS1 delta 4-desaturase, sphingolipid 1 JBrowse link 1 224,183,240 224,193,441 RGD:8699517
G DLL4 delta like canonical Notch ligand 4 JBrowse link 15 40,929,340 40,939,073 RGD:8699517
G DNM1L dynamin 1 like JBrowse link 12 32,679,200 32,745,650 RGD:8699517
G DOCK6 dedicator of cytokinesis 6 JBrowse link 19 11,199,295 11,262,524 RGD:8699517
G DPM2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory JBrowse link 9 127,935,099 127,937,854 RGD:8699517
G EARS2 glutamyl-tRNA synthetase 2, mitochondrial JBrowse link 16 23,520,754 23,557,375 RGD:8699517
G EIF2B1 eukaryotic translation initiation factor 2B subunit alpha JBrowse link 12 123,620,406 123,633,686 RGD:8699517
G EIF2B2 eukaryotic translation initiation factor 2B subunit beta JBrowse link 14 75,002,921 75,012,366 RGD:8699517
G EIF2B3 eukaryotic translation initiation factor 2B subunit gamma JBrowse link 1 44,850,522 44,986,722 RGD:8699517
G EIF2B4 eukaryotic translation initiation factor 2B subunit delta JBrowse link 2 27,364,352 27,370,457 RGD:8699517
G EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon JBrowse link 3 184,135,023 184,145,311 RGD:8699517
G EOGT EGF domain specific O-linked N-acetylglucosamine transferase JBrowse link 3 68,975,220 69,013,961 RGD:8699517
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 19 45,349,837 45,370,647 RGD:8699517
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit JBrowse link 2 127,257,290 127,294,166 RGD:8699517
G FA2H fatty acid 2-hydroxylase JBrowse link 16 74,712,955 74,774,831 RGD:8699517
G FASTKD2 FAST kinase domains 2 JBrowse link 2 206,765,388 206,796,189 RGD:8699517
G FGFRL1 fibroblast growth factor receptor like 1 JBrowse link 4 1,009,930 1,026,898 RGD:8699517
G FKRP fukutin related protein JBrowse link 19 46,746,015 46,758,575 RGD:8699517
G FOXRED1 FAD dependent oxidoreductase domain containing 1 JBrowse link 11 126,269,043 126,278,132 RGD:8699517
G GJC2 gap junction protein gamma 2 JBrowse link 1 228,149,930 228,159,826 RGD:8699517
G GLUL glutamate-ammonia ligase JBrowse link 1 182,378,093 182,392,206 RGD:8699517
G GM2A GM2 ganglioside activator JBrowse link 5 151,253,185 151,270,440 RGD:8699517
G GMPPB GDP-mannose pyrophosphorylase B JBrowse link 3 49,719,916 49,723,974 RGD:8699517
G GTF2E2 general transcription factor IIE subunit 2 JBrowse link 8 30,578,318 30,658,241 RGD:8699517
G GTF2H5 general transcription factor IIH subunit 5 JBrowse link 6 158,168,316 158,199,344 RGD:8699517
G HEPACAM hepatic and glial cell adhesion molecule JBrowse link 11 124,919,205 124,936,412 RGD:8699517
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase JBrowse link 2 190,203,920 190,319,826 RGD:8699517
G HIKESHI heat shock protein nuclear import factor hikeshi JBrowse link 11 86,302,229 86,345,943 RGD:8699517
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase JBrowse link 1 23,801,877 23,825,459 RGD:8699517
G HTRA1 HtrA serine peptidase 1 JBrowse link 10 122,461,553 122,514,907 RGD:8699517
G ISCA2 iron-sulfur cluster assembly 2 JBrowse link 14 74,493,720 74,497,106 RGD:8699517
G KIF5A kinesin family member 5A JBrowse link 12 57,550,039 57,586,633 RGD:8699517
G L2HGDH L-2-hydroxyglutarate dehydrogenase JBrowse link 14 50,242,434 50,312,229 RGD:8699517
G LAMA1 laminin subunit alpha 1 JBrowse link 18 6,941,742 7,117,797 RGD:8699517
G LAMB1 laminin subunit beta 1 JBrowse link 7 107,923,799 108,003,176 RGD:8699517
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 JBrowse link 22 33,162,237 33,922,824 RGD:8699517
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 JBrowse link 4 1,811,479 1,856,156 RGD:8699517
G LIPT2 lipoyl(octanoyl) transferase 2 JBrowse link 11 74,490,519 74,493,724 RGD:8699517
G LMNB1 lamin B1 JBrowse link 5 126,776,623 126,837,020 RGD:8699517
G LYRM7 LYR motif containing 7 JBrowse link 5 131,170,944 131,205,428 RGD:8699517
G MARS2 methionyl-tRNA synthetase 2, mitochondrial JBrowse link 2 197,705,369 197,708,395 RGD:8699517
G MEF2C myocyte enhancer factor 2C JBrowse link 5 88,717,117 88,904,105 RGD:8699517
G MLC1 modulator of VRAC current 1 JBrowse link 22 50,059,391 50,085,875 RGD:8699517
G MPLKIP M-phase specific PLK1 interacting protein JBrowse link 7 40,126,027 40,134,622 RGD:8699517
G MRPS22 mitochondrial ribosomal protein S22 JBrowse link 3 139,343,994 139,357,140 RGD:8699517
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 JBrowse link MT 3,307 4,262 RGD:8699517
G MT-ND2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 JBrowse link MT 4,470 5,511 RGD:8699517
G MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 JBrowse link MT 10,059 10,404 RGD:8699517
G MT-TN mitochondrially encoded tRNA-Asn (AAU/C) JBrowse link MT 5,657 5,729 RGD:8699517
G MT-TS1 mitochondrially encoded tRNA-Ser (UCN) 1 JBrowse link MT 7,446 7,514 RGD:8699517
G NAXE NAD(P)HX epimerase JBrowse link 1 156,591,776 156,599,818 RGD:8699517
G NDUFA1 NADH:ubiquinone oxidoreductase subunit A1 JBrowse link X 119,871,832 119,876,662 RGD:8699517
G NDUFA11 NADH:ubiquinone oxidoreductase subunit A11 JBrowse link 19 5,891,276 5,903,790 RGD:8699517
G NDUFA6 NADH:ubiquinone oxidoreductase subunit A6 JBrowse link 22 42,085,526 42,090,772 RGD:8699517
G NDUFAF1 NADH:ubiquinone oxidoreductase complex assembly factor 1 JBrowse link 15 41,387,353 41,402,501 RGD:8699517
G NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 JBrowse link 5 60,945,205 61,153,026 RGD:8699517
G NDUFAF3 NADH:ubiquinone oxidoreductase complex assembly factor 3 JBrowse link 3 49,020,475 49,023,495 RGD:8699517
G NDUFAF4 NADH:ubiquinone oxidoreductase complex assembly factor 4 JBrowse link 6 96,889,315 96,897,891 RGD:8699517
G NDUFAF5 NADH:ubiquinone oxidoreductase complex assembly factor 5 JBrowse link 20 13,785,026 13,821,580 RGD:8699517
G NDUFB10 NADH:ubiquinone oxidoreductase subunit B10 JBrowse link 16 1,959,538 1,961,975 RGD:8699517
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 JBrowse link X 47,142,216 47,145,210 RGD:8699517
G NDUFB3 NADH:ubiquinone oxidoreductase subunit B3 JBrowse link 2 201,071,784 201,085,750 RGD:8699517
G NDUFB9 NADH:ubiquinone oxidoreductase subunit B9 JBrowse link 8 124,539,102 124,549,986 RGD:8699517
G NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 JBrowse link 2 206,114,817 206,159,444 RGD:8699517
G NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 JBrowse link 1 161,197,417 161,214,395 RGD:8699517
G NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 JBrowse link 11 47,579,074 47,584,562 RGD:8699517
G NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 JBrowse link 5 53,560,610 53,683,338 RGD:8699517
G NDUFS6 NADH:ubiquinone oxidoreductase subunit S6 JBrowse link 5 1,801,407 1,816,048 RGD:8699517
G NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 JBrowse link 19 1,383,904 1,395,584 RGD:8699517
G NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 JBrowse link 11 68,030,681 68,036,644 RGD:8699517
G NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 JBrowse link 11 67,606,936 67,612,554 RGD:8699517
G NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 JBrowse link 18 9,102,642 9,134,341 RGD:8699517
G NFE2L2 nuclear factor, erythroid 2 like 2 JBrowse link 2 177,230,303 177,265,131 RGD:8699517
G NOTCH1 notch receptor 1 JBrowse link 9 136,494,433 136,546,048 RGD:8699517
G NOTCH3 notch receptor 3 JBrowse link 19 15,159,038 15,200,995 RGD:8699517
G NSD2 nuclear receptor binding SET domain protein 2 JBrowse link 4 1,871,393 1,982,207 RGD:8699517
G NUBPL nucleotide binding protein like JBrowse link 14 31,561,399 31,861,293 RGD:8699517
G OCRL OCRL inositol polyphosphate-5-phosphatase JBrowse link X 129,540,259 129,592,556 RGD:8699517
G OPA1 OPA1 mitochondrial dynamin like GTPase JBrowse link 3 193,593,144 193,697,811 RGD:8699517
G PC pyruvate carboxylase JBrowse link 11 66,848,420 66,958,418 RGD:8699517
G PET100 PET100 cytochrome c oxidase chaperone JBrowse link 19 7,629,793 7,631,956 RGD:8699517
G PLAA phospholipase A2 activating protein JBrowse link 9 26,903,372 26,947,473 RGD:8699517
G PMPCB peptidase, mitochondrial processing subunit beta JBrowse link 7 103,297,435 103,329,902 RGD:8699517
G POLG DNA polymerase gamma, catalytic subunit JBrowse link 15 89,316,320 89,334,824 RGD:8699517
G POMT1 protein O-mannosyltransferase 1 JBrowse link 9 131,502,902 131,523,803 RGD:8699517
G POMT2 protein O-mannosyltransferase 2 JBrowse link 14 77,274,956 77,320,885 RGD:8699517
G PRNP prion protein JBrowse link 20 4,686,456 4,701,588 RGD:8699517
G PSAP prosaposin JBrowse link 10 71,816,298 71,851,251 RGD:8699517
G RAC1 Rac family small GTPase 1 JBrowse link 7 6,374,527 6,403,967 RGD:8699517
G RBPJ recombination signal binding protein for immunoglobulin kappa J region JBrowse link 4 26,163,458 26,435,131 RGD:8699517
G RFWD3 ring finger and WD repeat domain 3 JBrowse link 16 74,621,396 74,666,892 RGD:8699517
G RNASET2 ribonuclease T2 JBrowse link 6 166,922,113 166,956,580 RGD:8699517
G RNF113A ring finger protein 113A JBrowse link X 119,870,475 119,871,733 RGD:8699517
G RPIA ribose 5-phosphate isomerase A JBrowse link 2 88,691,673 88,750,929 RGD:8699517
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B JBrowse link 8 102,204,501 102,238,961 RGD:8699517
G RTTN rotatin JBrowse link 18 70,003,031 70,205,726 RGD:8699517
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 JBrowse link 20 36,889,773 36,951,708 RGD:8699517
G SCO1 synthesis of cytochrome C oxidase 1 JBrowse link 17 10,672,474 10,697,533 RGD:8699517
G SCP2 sterol carrier protein 2 JBrowse link 1 52,927,229 53,051,698 RGD:8699517
G SDHA succinate dehydrogenase complex flavoprotein subunit A JBrowse link 5 218,223 264,816 RGD:8699517
G SDHAF1 succinate dehydrogenase complex assembly factor 1 JBrowse link 19 35,995,188 35,996,312 RGD:8699517
G SDHD succinate dehydrogenase complex subunit D JBrowse link 11 112,086,873 112,095,794 RGD:8699517
G SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase JBrowse link 4 25,120,014 25,160,546 RGD:8699517
G SHANK3 SH3 and multiple ankyrin repeat domains 3 JBrowse link 22 50,674,391 50,733,212 RGD:8699517
G SNORD118 small nucleolar RNA, C/D box 118 JBrowse link 17 8,173,453 8,173,588 RGD:8699517
G SON SON DNA and RNA binding protein JBrowse link 21 33,543,038 33,577,514 RGD:8699517
G SPG11 SPG11 vesicle trafficking associated, spatacsin JBrowse link 15 44,562,696 44,663,678 RGD:8699517
G SSR4 signal sequence receptor subunit 4 JBrowse link X 153,794,159 153,798,512 RGD:8699517
G SUMF1 sulfatase modifying factor 1 JBrowse link 3 4,034,714 4,467,282 RGD:8699517
G TACO1 translational activator of cytochrome c oxidase I JBrowse link 17 63,600,895 63,608,365 RGD:8699517
G TARS1 threonyl-tRNA synthetase 1 JBrowse link 5 33,440,696 33,468,091 RGD:8699517
G TBCK TBC1 domain containing kinase JBrowse link 4 106,041,599 106,316,683 RGD:8699517
G TIMMDC1 translocase of inner mitochondrial membrane domain containing 1 JBrowse link 3 119,498,525 119,525,090 RGD:8699517
G TMEM126B transmembrane protein 126B JBrowse link 11 85,628,573 85,636,540 RGD:8699517
G TMEM70 transmembrane protein 70 JBrowse link 8 73,976,142 73,982,783 RGD:8699517
G TREX1 three prime repair exonuclease 1 JBrowse link 3 48,465,830 48,467,645 RGD:8699517
G TRMT1 tRNA methyltransferase 1 JBrowse link 19 13,104,900 13,117,567 RGD:8699517
G TSEN54 tRNA splicing endonuclease subunit 54 JBrowse link 17 75,516,528 75,524,735 RGD:8699517
G TYMP thymidine phosphorylase JBrowse link 22 50,525,752 50,530,085 RGD:8699517
G TYROBP transmembrane immune signaling adaptor TYROBP JBrowse link 19 35,904,403 35,908,295 RGD:8699517
G VPS11 VPS11 core subunit of CORVET and HOPS complexes JBrowse link 11 119,067,792 119,081,972 RGD:8699517
G YME1L1 YME1 like 1 ATPase JBrowse link 10 27,110,111 27,155,051 RGD:8699517
Abnormality of the periventricular white matter term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AARS2 alanyl-tRNA synthetase 2, mitochondrial JBrowse link 6 44,297,850 44,313,358 RGD:8699517
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 JBrowse link 10 95,605,938 95,656,901 RGD:8699517
G AMPD2 adenosine monophosphate deaminase 2 JBrowse link 1 109,619,813 109,632,055 RGD:8699517
G AP4B1 adaptor related protein complex 4 subunit beta 1 JBrowse link 1 113,894,194 113,905,067 RGD:8699517
G AP4E1 adaptor related protein complex 4 subunit epsilon 1 JBrowse link 15 50,908,569 51,005,900 RGD:8699517
G AP4M1 adaptor related protein complex 4 subunit mu 1 JBrowse link 7 100,101,413 100,109,039 RGD:8699517
G AP4S1 adaptor related protein complex 4 subunit sigma 1 JBrowse link 14 31,025,106 31,096,450 RGD:8699517
G AP5Z1 adaptor related protein complex 5 subunit zeta 1 JBrowse link 7 4,775,623 4,794,397 RGD:8699517
G ARHGAP31 Rho GTPase activating protein 31 JBrowse link 3 119,294,289 119,420,714 RGD:8699517
G ARID2 AT-rich interaction domain 2 JBrowse link 12 45,729,706 45,908,037 RGD:8699517
G ARSA arylsulfatase A JBrowse link 22 50,622,754 50,628,152 RGD:8699517
G ATP13A2 ATPase cation transporting 13A2 JBrowse link 1 16,985,958 17,011,972 RGD:8699517
G CDC42 cell division cycle 42 JBrowse link 1 22,052,709 22,101,360 RGD:8699517
G CLCN4 chloride voltage-gated channel 4 JBrowse link X 10,156,945 10,237,660 RGD:8699517
G CPLX1 complexin 1 JBrowse link 4 784,957 826,129 RGD:8699517
G CSF1R colony stimulating factor 1 receptor JBrowse link 5 150,053,291 150,113,372 RGD:8699517
G CTBP1 C-terminal binding protein 1 JBrowse link 4 1,211,444 1,250,355 RGD:8699517
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 JBrowse link 2 218,781,733 218,815,293 RGD:8699517
G DDHD2 DDHD domain containing 2 JBrowse link 8 38,231,491 38,273,922 RGD:8699517
G DEGS1 delta 4-desaturase, sphingolipid 1 JBrowse link 1 224,183,240 224,193,441 RGD:8699517
G DLL4 delta like canonical Notch ligand 4 JBrowse link 15 40,929,340 40,939,073 RGD:8699517
G DNM1L dynamin 1 like JBrowse link 12 32,679,200 32,745,650 RGD:8699517
G DOCK6 dedicator of cytokinesis 6 JBrowse link 19 11,199,295 11,262,524 RGD:8699517
G DPM2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory JBrowse link 9 127,935,099 127,937,854 RGD:8699517
G EOGT EGF domain specific O-linked N-acetylglucosamine transferase JBrowse link 3 68,975,220 69,013,961 RGD:8699517
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 19 45,349,837 45,370,647 RGD:8699517
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit JBrowse link 2 127,257,290 127,294,166 RGD:8699517
G FA2H fatty acid 2-hydroxylase JBrowse link 16 74,712,955 74,774,831 RGD:8699517
G FGFRL1 fibroblast growth factor receptor like 1 JBrowse link 4 1,009,930 1,026,898 RGD:8699517
G FKRP fukutin related protein JBrowse link 19 46,746,015 46,758,575 RGD:8699517
G GLUL glutamate-ammonia ligase JBrowse link 1 182,378,093 182,392,206 RGD:8699517
G GM2A GM2 ganglioside activator JBrowse link 5 151,253,185 151,270,440 RGD:8699517
G GMPPB GDP-mannose pyrophosphorylase B JBrowse link 3 49,719,916 49,723,974 RGD:8699517
G GTF2E2 general transcription factor IIE subunit 2 JBrowse link 8 30,578,318 30,658,241 RGD:8699517
G GTF2H5 general transcription factor IIH subunit 5 JBrowse link 6 158,168,316 158,199,344 RGD:8699517
G HIKESHI heat shock protein nuclear import factor hikeshi JBrowse link 11 86,302,229 86,345,943 RGD:8699517
G ISCA2 iron-sulfur cluster assembly 2 JBrowse link 14 74,493,720 74,497,106 RGD:8699517
G LAMA1 laminin subunit alpha 1 JBrowse link 18 6,941,742 7,117,797 RGD:8699517
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 JBrowse link 22 33,162,237 33,922,824 RGD:8699517
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 JBrowse link 4 1,811,479 1,856,156 RGD:8699517
G LIPT2 lipoyl(octanoyl) transferase 2 JBrowse link 11 74,490,519 74,493,724 RGD:8699517
G LYRM7 LYR motif containing 7 JBrowse link 5 131,170,944 131,205,428 RGD:8699517
G MEF2C myocyte enhancer factor 2C JBrowse link 5 88,717,117 88,904,105 RGD:8699517
G MPLKIP M-phase specific PLK1 interacting protein JBrowse link 7 40,126,027 40,134,622 RGD:8699517
G NOTCH1 notch receptor 1 JBrowse link 9 136,494,433 136,546,048 RGD:8699517
G NSD2 nuclear receptor binding SET domain protein 2 JBrowse link 4 1,871,393 1,982,207 RGD:8699517
G OCRL OCRL inositol polyphosphate-5-phosphatase JBrowse link X 129,540,259 129,592,556 RGD:8699517
G OPA1 OPA1 mitochondrial dynamin like GTPase JBrowse link 3 193,593,144 193,697,811 RGD:8699517
G PC pyruvate carboxylase JBrowse link 11 66,848,420 66,958,418 RGD:8699517
G POMT1 protein O-mannosyltransferase 1 JBrowse link 9 131,502,902 131,523,803 RGD:8699517
G POMT2 protein O-mannosyltransferase 2 JBrowse link 14 77,274,956 77,320,885 RGD:8699517
G PSAP prosaposin JBrowse link 10 71,816,298 71,851,251 RGD:8699517
G RAC1 Rac family small GTPase 1 JBrowse link 7 6,374,527 6,403,967 RGD:8699517
G RBPJ recombination signal binding protein for immunoglobulin kappa J region JBrowse link 4 26,163,458 26,435,131 RGD:8699517
G RFWD3 ring finger and WD repeat domain 3 JBrowse link 16 74,621,396 74,666,892 RGD:8699517
G RNF113A ring finger protein 113A JBrowse link X 119,870,475 119,871,733 RGD:8699517
G RTTN rotatin JBrowse link 18 70,003,031 70,205,726 RGD:8699517
G SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase JBrowse link 4 25,120,014 25,160,546 RGD:8699517
G SHANK3 SH3 and multiple ankyrin repeat domains 3 JBrowse link 22 50,674,391 50,733,212 RGD:8699517
G SON SON DNA and RNA binding protein JBrowse link 21 33,543,038 33,577,514 RGD:8699517
G SPG11 SPG11 vesicle trafficking associated, spatacsin JBrowse link 15 44,562,696 44,663,678 RGD:8699517
G SSR4 signal sequence receptor subunit 4 JBrowse link X 153,794,159 153,798,512 RGD:8699517
G SUMF1 sulfatase modifying factor 1 JBrowse link 3 4,034,714 4,467,282 RGD:8699517
G TARS1 threonyl-tRNA synthetase 1 JBrowse link 5 33,440,696 33,468,091 RGD:8699517
G TBCK TBC1 domain containing kinase JBrowse link 4 106,041,599 106,316,683 RGD:8699517
G TREX1 three prime repair exonuclease 1 JBrowse link 3 48,465,830 48,467,645 RGD:8699517
G TRMT1 tRNA methyltransferase 1 JBrowse link 19 13,104,900 13,117,567 RGD:8699517
G TSEN54 tRNA splicing endonuclease subunit 54 JBrowse link 17 75,516,528 75,524,735 RGD:8699517
G VPS11 VPS11 core subunit of CORVET and HOPS complexes JBrowse link 11 119,067,792 119,081,972 RGD:8699517
Diffuse leukoencephalopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LMNB1 lamin B1 JBrowse link 5 126,776,623 126,837,020 RGD:8699517
Diffuse spongiform leukoencephalopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HEPACAM hepatic and glial cell adhesion molecule JBrowse link 11 124,919,205 124,936,412 RGD:8699517
G MLC1 modulator of VRAC current 1 JBrowse link 22 50,059,391 50,085,875 RGD:8699517
G PRNP prion protein JBrowse link 20 4,686,456 4,701,588 RGD:8699517
Periventricular cysts term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CPLX1 complexin 1 JBrowse link 4 784,957 826,129 RGD:8699517
G CTBP1 C-terminal binding protein 1 JBrowse link 4 1,211,444 1,250,355 RGD:8699517
G FGFRL1 fibroblast growth factor receptor like 1 JBrowse link 4 1,009,930 1,026,898 RGD:8699517
G GLUL glutamate-ammonia ligase JBrowse link 1 182,378,093 182,392,206 RGD:8699517
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 JBrowse link 4 1,811,479 1,856,156 RGD:8699517
G LIPT2 lipoyl(octanoyl) transferase 2 JBrowse link 11 74,490,519 74,493,724 RGD:8699517
G NSD2 nuclear receptor binding SET domain protein 2 JBrowse link 4 1,871,393 1,982,207 RGD:8699517
G OCRL OCRL inositol polyphosphate-5-phosphatase JBrowse link X 129,540,259 129,592,556 RGD:8699517
Periventricular leukomalacia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AARS2 alanyl-tRNA synthetase 2, mitochondrial JBrowse link 6 44,297,850 44,313,358 RGD:8699517
G ARHGAP31 Rho GTPase activating protein 31 JBrowse link 3 119,294,289 119,420,714 RGD:8699517
G ARID2 AT-rich interaction domain 2 JBrowse link 12 45,729,706 45,908,037 RGD:8699517
G CLCN4 chloride voltage-gated channel 4 JBrowse link X 10,156,945 10,237,660 RGD:8699517
G DDHD2 DDHD domain containing 2 JBrowse link 8 38,231,491 38,273,922 RGD:8699517
G DLL4 delta like canonical Notch ligand 4 JBrowse link 15 40,929,340 40,939,073 RGD:8699517
G DOCK6 dedicator of cytokinesis 6 JBrowse link 19 11,199,295 11,262,524 RGD:8699517
G EOGT EGF domain specific O-linked N-acetylglucosamine transferase JBrowse link 3 68,975,220 69,013,961 RGD:8699517
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 19 45,349,837 45,370,647 RGD:8699517
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit JBrowse link 2 127,257,290 127,294,166 RGD:8699517
G GTF2E2 general transcription factor IIE subunit 2 JBrowse link 8 30,578,318 30,658,241 RGD:8699517
G GTF2H5 general transcription factor IIH subunit 5 JBrowse link 6 158,168,316 158,199,344 RGD:8699517
G MPLKIP M-phase specific PLK1 interacting protein JBrowse link 7 40,126,027 40,134,622 RGD:8699517
G NOTCH1 notch receptor 1 JBrowse link 9 136,494,433 136,546,048 RGD:8699517
G PC pyruvate carboxylase JBrowse link 11 66,848,420 66,958,418 RGD:8699517
G RBPJ recombination signal binding protein for immunoglobulin kappa J region JBrowse link 4 26,163,458 26,435,131 RGD:8699517
G RNF113A ring finger protein 113A JBrowse link X 119,870,475 119,871,733 RGD:8699517
G SON SON DNA and RNA binding protein JBrowse link 21 33,543,038 33,577,514 RGD:8699517
G TARS1 threonyl-tRNA synthetase 1 JBrowse link 5 33,440,696 33,468,091 RGD:8699517
G TBCK TBC1 domain containing kinase JBrowse link 4 106,041,599 106,316,683 RGD:8699517
G TRMT1 tRNA methyltransferase 1 JBrowse link 19 13,104,900 13,117,567 RGD:8699517
Progressive leukoencephalopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AARS2 alanyl-tRNA synthetase 2, mitochondrial JBrowse link 6 44,297,850 44,313,358 RGD:8699517
G COA8 cytochrome c oxidase assembly factor 8 JBrowse link 14 103,562,960 103,590,899 RGD:8699517
G KIF5A kinesin family member 5A JBrowse link 12 57,550,039 57,586,633 RGD:8699517
G PLAA phospholipase A2 activating protein JBrowse link 9 26,903,372 26,947,473 RGD:8699517
G SDHA succinate dehydrogenase complex flavoprotein subunit A JBrowse link 5 218,223 264,816 RGD:8699517
G SDHAF1 succinate dehydrogenase complex assembly factor 1 JBrowse link 19 35,995,188 35,996,312 RGD:8699517
G SDHD succinate dehydrogenase complex subunit D JBrowse link 11 112,086,873 112,095,794 RGD:8699517
Punctate periventricular T2 hyperintense foci term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ARSA arylsulfatase A JBrowse link 22 50,622,754 50,628,152 RGD:8699517
G GM2A GM2 ganglioside activator JBrowse link 5 151,253,185 151,270,440 RGD:8699517
G PSAP prosaposin JBrowse link 10 71,816,298 71,851,251 RGD:8699517

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 6035
    Phenotypic abnormality 6031
      Abnormality of the nervous system 3344
        Abnormality of nervous system morphology 2540
          Morphological abnormality of the central nervous system 2341
            Abnormality of brain morphology 2098
              Abnormality of forebrain morphology 1585
                Abnormal cerebral morphology 1561
                  Leukoencephalopathy 158
                    Abnormality of the periventricular white matter + 69
                    Diffuse leukoencephalopathy 1
                    Diffuse spongiform leukoencephalopathy 3
                    Posterior leukoencephalopathy 0
                    Progressive leukoencephalopathy 7
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.