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ONTOLOGY REPORT - ANNOTATIONS


Term:Metabolic Brain Diseases
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Accession:DOID:9005627 term browser browse the term
Definition:Acquired or inborn metabolic diseases that produce brain dysfunction or damage. These include primary (i.e., disorders intrinsic to the brain) and secondary (i.e., extracranial) metabolic conditions that adversely affect cerebral function.
Synonyms:exact_synonym: Acquired Metabolic Diseases, Brain;   Acquired Metabolic Encephalopathies;   Acquired Metabolic Encephalopathy;   Brain Disorders, Metabolic, Acquired;   Brain Metabolic Disorder;   Brain Metabolic Disorders;   CNS Metabolic Disorder;   CNS Metabolic Disorders;   CNS Metabolic Disorders, Acquired;   Central Nervous System Metabolic Disorders;   Metabolic Brain Disease;   Metabolic Brain Syndrome;   Metabolic Brain Syndrome, Acquired;   Metabolic Brain Syndromes;   Metabolic Brain Syndromes, Acquired;   Metabolic Disorder, Central Nervous System, Acquired;   Metabolic Encephalopathies;   Metabolic Encephalopathy;   Nervous System Acquired Metabolic Diseases
 primary_id: MESH:D001928
 alt_id: RDO:0001330
For additional species annotation, visit the Alliance of Genome Resources.


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Metabolic Brain Diseases term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh5a1 aldehyde dehydrogenase 5 family, member A1 JBrowse link 17 42,133,076 42,159,413 RGD:11554173
G Cpt2 carnitine palmitoyltransferase 2 JBrowse link 5 127,505,646 127,523,016 RGD:11554173
G Fas Fas cell surface death receptor JBrowse link 1 252,589,785 252,624,790 RGD:1600356
2-hydroxyglutaric aciduria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G D2hgdh D-2-hydroxyglutarate dehydrogenase JBrowse link 9 100,956,570 100,974,393 RGD:11554173
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 JBrowse link 1 141,874,354 141,893,674 RGD:11554173
G L2hgdh L-2-hydroxyglutarate dehydrogenase JBrowse link 6 92,016,560 92,057,643 RGD:11554173
RGD:13506818
RGD:13506815
RGD:13506814
G Slc25a1 solute carrier family 25 member 1 JBrowse link 11 87,204,248 87,207,265 RGD:7240710
RGD:8554872
RGD:13506826
3-Methylcrotonyl-CoA carboxylase 1 deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mccc1 methylcrotonoyl-CoA carboxylase 1 JBrowse link 2 122,550,777 122,690,540 RGD:7240710
RGD:8554872
3-Methylcrotonyl-CoA carboxylase 2 deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mccc2 methylcrotonoyl-CoA carboxylase 2 JBrowse link 2 30,175,017 30,246,028 RGD:7240710
RGD:8554872
3-Methylcrotonyl-CoA carboxylase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mccc1 methylcrotonoyl-CoA carboxylase 1 JBrowse link 2 122,550,777 122,690,540 RGD:8554872
G Mccc2 methylcrotonoyl-CoA carboxylase 2 JBrowse link 2 30,175,017 30,246,028 RGD:8554872
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Serac1 serine active site containing 1 JBrowse link 1 46,934,499 46,978,264 RGD:7240710
RGD:8554872
adrenoleukodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcd1 ATP binding cassette subfamily D member 1 JBrowse link X 157,073,860 157,095,652 RGD:1598655
RGD:8554872
RGD:11554173
RGD:7240710
G Acsbg1 acyl-CoA synthetase bubblegum family member 1 JBrowse link 8 59,184,111 59,240,133 RGD:11065111
G Arhgap4 Rho GTPase activating protein 4 JBrowse link X 156,873,094 156,888,762 RGD:8554872
G Atp6ap1 ATPase H+ transporting accessory protein 1 JBrowse link X 156,407,973 156,415,053 RGD:8554872
G Avpr2 arginine vasopressin receptor 2 JBrowse link X 156,889,006 156,892,707 RGD:8554872
G Bcap31 B-cell receptor-associated protein 31 JBrowse link X 157,094,365 157,126,397 RGD:8554872
G Ctag2 cancer/testis antigen 2 JBrowse link X 148,421,627 148,422,921 RGD:8554872
G Dkc1 dyskerin pseudouridine synthase 1 JBrowse link X 155,844,914 155,862,363 RGD:8554872
G Dnase1l1 deoxyribonuclease 1-like 1 JBrowse link X 156,429,521 156,438,066 RGD:8554872
G Emd emerin JBrowse link X 156,452,847 156,455,858 RGD:8554872
G F8 coagulation factor VIII JBrowse link 18 367,862 399,242 RGD:8554872
G Fam3a FAM3 metabolism regulating signaling molecule A JBrowse link X 156,319,687 156,328,974 RGD:8554872
G Fam50a family with sequence similarity 50, member A JBrowse link X 156,392,646 156,399,763 RGD:8554872
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:8554872
G G6pd glucose-6-phosphate dehydrogenase JBrowse link X 156,274,800 156,293,935 RGD:8554872
G Gdi1 GDP dissociation inhibitor 1 JBrowse link X 156,400,734 156,407,396 RGD:8554872
G Hcfc1 host cell factor C1 JBrowse link X 156,812,012 156,837,227 RGD:8554872
G Hmox1 heme oxygenase 1 JBrowse link 19 14,508,634 14,515,455 RGD:11554173
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma JBrowse link X 156,999,803 157,008,735 RGD:8554872
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:11554173
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma JBrowse link X 156,254,187 156,280,046 RGD:8554872
G Irak1 interleukin-1 receptor-associated kinase 1 JBrowse link X 156,716,469 156,726,367 RGD:8554872
G L1cam L1 cell adhesion molecule JBrowse link X 156,901,244 156,928,064 RGD:8554872
G Lage3 L antigen family, member 3 JBrowse link X 156,355,376 156,356,799 RGD:8554872
G Mecp2 methyl CpG binding protein 2 JBrowse link X 156,650,389 156,713,813 RGD:8554872
G Mmp10 matrix metallopeptidase 10 JBrowse link 8 5,734,348 5,742,243 RGD:13204814
G Mmp2 matrix metallopeptidase 2 JBrowse link 19 15,542,771 15,570,589 RGD:13204814
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:13204814
G Mpp1 membrane palmitoylated protein 1 JBrowse link 1 148,450,213 148,458,945 RGD:8554872
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit JBrowse link X 156,863,655 156,868,950 RGD:8554872
G Opn1mw opsin 1, medium wave sensitive JBrowse link X 156,569,683 156,589,907 RGD:8554872
G Pdzd4 PDZ domain containing 4 JBrowse link X 156,963,343 156,993,591 RGD:8554872
G Pex13 peroxisomal biogenesis factor 13 JBrowse link 14 108,394,299 108,411,994 RGD:11554173
G Pex26 peroxisomal biogenesis factor 26 JBrowse link 4 153,747,715 153,760,446 RGD:11554173
G Plxna3 plexin A3 JBrowse link X 156,363,400 156,379,433 RGD:8554872
G Plxnb3 plexin B3 JBrowse link X 157,015,297 157,030,147 RGD:8554872
G Renbp renin binding protein JBrowse link X 156,854,490 156,863,548 RGD:8554872
G Rpl10 ribosomal protein L10 JBrowse link X 156,438,251 156,440,461 RGD:8554872
G Slc10a3 solute carrier family 10, member 3 JBrowse link X 156,335,385 156,340,256 RGD:8554872
G Slc6a8 solute carrier family 6 member 8 JBrowse link X 157,129,987 157,139,321 RGD:8554872
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:11554173
G Srpk3 SRSF protein kinase 3 JBrowse link X 157,008,773 157,014,342 RGD:8554872
G Ssr4 signal sequence receptor subunit 4 JBrowse link X 156,995,763 156,999,702 RGD:8554872
G Taz tafazzin JBrowse link X 156,421,006 156,429,461 RGD:8554872
G Tex28 testis expressed 28 JBrowse link X 156,540,442 156,569,272 RGD:8554872
G Timp1 TIMP metallopeptidase inhibitor 1 JBrowse link X 1,364,771 1,369,451 RGD:13204814
G Tktl1 transketolase-like 1 JBrowse link X 156,507,797 156,540,733 RGD:8554872
G Ubl4a ubiquitin-like 4A JBrowse link X 156,340,919 156,343,771 RGD:8554872
Adult Refsum Disease, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pex7 peroxisomal biogenesis factor 7 JBrowse link 1 15,311,768 15,374,702 RGD:8554872
G Phyh phytanoyl-CoA 2-hydroxylase JBrowse link 17 77,287,580 77,304,482 RGD:8554872
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
Adult-Onset Citrullinemia Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc25a13 solute carrier family 25 member 13 JBrowse link 4 31,134,165 31,757,006 RGD:1599241
RGD:8554872
RGD:11554173
RGD:7240710
RGD:1599242
Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankib1 ankyrin repeat and IBR domain containing 1 JBrowse link 4 27,473,477 27,597,206 RGD:8554872
G Krit1 KRIT1, ankyrin repeat containing JBrowse link 4 27,438,609 27,473,150 RGD:8554872
argininosuccinic aciduria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Asl argininosuccinate lyase JBrowse link 12 30,160,922 30,178,348 RGD:1302509
RGD:8554872
RGD:13628399
RGD:11554173
RGD:7240710
Asparagine Synthetase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Asns asparagine synthetase (glutamine-hydrolyzing) JBrowse link 4 33,742,876 33,761,106 RGD:7240710
RGD:8554872
atypical Gaucher's disease due to saposin C 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
autosomal recessive osteopetrosis 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Car2 carbonic anhydrase 2 JBrowse link 2 88,097,740 88,112,868 RGD:7240710
RGD:8554872
BH4-deficient hyperphenylalaninemia A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gch1 GTP cyclohydrolase 1 JBrowse link 15 23,935,011 23,968,971 RGD:8554872
G Pts 6-pyruvoyl-tetrahydropterin synthase JBrowse link 8 54,954,261 54,961,271 RGD:7240710
RGD:8554872
branched-chain keto acid dehydrogenase kinase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Armc5 armadillo repeat containing 5 JBrowse link 1 199,655,069 199,662,419 RGD:8554872
G Bckdk branched chain ketoacid dehydrogenase kinase JBrowse link 1 199,351,628 199,356,299 RGD:7240710
RGD:8554872
G Bcl7c BAF chromatin remodeling complex subunit BCL7C JBrowse link 1 199,112,192 199,159,125 RGD:8554872
G Ccdc189 coiled-coil domain containing 189 JBrowse link 1 199,032,105 199,037,267 RGD:8554872
G Cox6a2 cytochrome c oxidase subunit 6A2 JBrowse link 1 199,624,037 199,626,255 RGD:8554872
G Ctf1 cardiotrophin 1 JBrowse link 1 199,162,319 199,168,296 RGD:8554872
G Fbrs fibrosin JBrowse link 1 198,925,265 198,938,939 RGD:8554872
G Fbxl19 F-box and leucine-rich repeat protein 19 JBrowse link 1 199,196,126 199,217,147 RGD:8554872
G Fus FUS RNA binding protein JBrowse link 1 199,412,805 199,426,705 RGD:8554872
G Hsd3b7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 JBrowse link 1 199,248,084 199,251,745 RGD:8554872
G Itgad integrin subunit alpha D JBrowse link 1 199,595,968 199,623,931 RGD:8554872
G Itgam integrin subunit alpha M JBrowse link 1 199,495,312 199,545,738 RGD:8554872
G Itgax integrin subunit alpha X JBrowse link 1 199,555,560 199,576,948 RGD:8554872
G Kat8 lysine acetyltransferase 8 JBrowse link 1 199,360,645 199,372,925 RGD:8554872
G LOC102555635 zinc finger protein 39-like JBrowse link 10 45,193,771 45,211,045 RGD:8554872
G Orai3 ORAI calcium release-activated calcium modulator 3 JBrowse link 1 199,217,504 199,222,363 RGD:8554872
G Phkg2 phosphorylase kinase catalytic subunit gamma 2 JBrowse link 1 199,019,298 199,032,053 RGD:8554872
G Prr14 proline rich 14 JBrowse link 1 198,910,994 198,915,473 RGD:8554872
G Prss36 serine protease 36 JBrowse link 1 199,379,374 199,396,339 RGD:8554872
G Prss53 serine protease 53 JBrowse link 1 199,331,108 199,337,129 RGD:8554872
G Prss8 serine protease 8 JBrowse link 1 199,372,519 199,377,035 RGD:8554872
G Pycard PYD and CARD domain containing JBrowse link 1 199,438,029 199,439,062 RGD:8554872
G RGD1310127 similar to cDNA sequence BC017158 JBrowse link 1 199,687,775 199,716,205 RGD:8554872
G Rnf40 ring finger protein 40 JBrowse link 1 199,037,472 199,052,823 RGD:8554872
G Setd1a SET domain containing 1A, histone lysine methyltransferase JBrowse link 1 199,222,584 199,247,993 RGD:8554872
G Slc5a2 solute carrier family 5 member 2 JBrowse link 1 199,682,688 199,688,809 RGD:8554872
G Srcap Snf2-related CREBBP activator protein JBrowse link 1 198,957,764 199,007,576 RGD:8554872
G Stx1b syntaxin 1B JBrowse link 1 199,251,842 199,270,465 RGD:8554872
G Stx4 syntaxin 4 JBrowse link 1 199,287,384 199,295,606 RGD:8554872
G Tgfb1i1 transforming growth factor beta 1 induced transcript 1 JBrowse link 1 199,664,039 199,670,970 RGD:8554872
G Trim72 tripartite motif containing 72 JBrowse link 1 199,450,042 199,457,902 RGD:8554872
G Vkorc1 vitamin K epoxide reductase complex, subunit 1 JBrowse link 1 199,338,785 199,341,306 RGD:8554872
G Zfp629 zinc finger protein 629 JBrowse link 1 199,052,430 199,065,639 RGD:8554872
G Zfp646 zinc finger protein 646 JBrowse link 1 199,321,354 199,331,256 RGD:8554872
G Zfp668 zinc finger protein 668 JBrowse link 1 199,310,935 199,321,231 RGD:8554872
G Zfp688 zinc finger protein 688 JBrowse link 1 198,865,950 198,869,068 RGD:8554872
G Zfp689 zinc finger protein 689 JBrowse link 1 198,894,000 198,900,364 RGD:8554872
G Zfp764 zinc finger protein 764 JBrowse link 1 198,834,995 198,839,251 RGD:8554872
carbamoyl phosphate synthetase I deficiency disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cps1 carbamoyl-phosphate synthase 1 JBrowse link 9 74,113,437 74,236,274 RGD:1600715
RGD:8554872
RGD:11554173
RGD:7240710
Cardiac Form of Generalized Glycogenosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gaa glucosidase, alpha, acid JBrowse link 10 108,395,873 108,412,999 RGD:8554872
central pontine myelinolysis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aqp1 aquaporin 1 (Colton blood group) JBrowse link 4 85,551,503 85,563,683 RGD:8696006
G Aqp4 aquaporin 4 JBrowse link 18 6,766,009 6,782,757 RGD:8696006
Charcot-Marie-Tooth disease type 4D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ndrg1 N-myc downstream regulated 1 JBrowse link 7 107,734,326 107,775,701 RGD:8554872
RGD:7240710
citrullinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ass1 argininosuccinate synthase 1 JBrowse link 3 10,327,411 10,375,847 RGD:1599301
RGD:8554872
RGD:7240710
G Slc25a13 solute carrier family 25 member 13 JBrowse link 4 31,134,165 31,757,006 RGD:8554872
RGD:13592920
G Slc25a15 solute carrier family 25 member 15 JBrowse link 16 74,505,318 74,554,523 RGD:1599240
RGD:1599239
CITRULLINEMIA TYPE 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arg1 arginase 1 JBrowse link 1 21,525,421 21,537,872 RGD:13628398
G Slc25a13 solute carrier family 25 member 13 JBrowse link 4 31,134,165 31,757,006 RGD:8554872
classic galactosemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Galt galactose-1-phosphate uridylyltransferase JBrowse link 5 58,144,679 58,147,946 RGD:8554872
RGD:7240710
combined oxidative phosphorylation deficiency 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gfm1 G elongation factor, mitochondrial 1 JBrowse link 2 164,601,575 164,646,478 RGD:7240710
RGD:8554872
G Mrpl44 mitochondrial ribosomal protein L44 JBrowse link 9 85,542,763 85,547,814 RGD:8554872
G Mrps22 mitochondrial ribosomal protein S22 JBrowse link 8 106,604,421 106,617,591 RGD:8554872
G Nars2 asparaginyl-tRNA synthetase 2, mitochondrial JBrowse link 1 161,922,132 162,035,817 RGD:8554872
G Vars2 valyl-tRNA synthetase 2, mitochondrial JBrowse link 20 3,588,462 3,599,514 RGD:8554872
combined oxidative phosphorylation deficiency 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aifm1 apoptosis inducing factor, mitochondria associated 1 JBrowse link X 135,304,063 135,343,062 RGD:7240710
RGD:8554872
G Rab33a RAB33A, member RAS oncogene family JBrowse link X 135,348,799 135,360,204 RGD:8554872
combined oxidative phosphorylation deficiency 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RGD1563482 similar to hypothetical protein FLJ38663 JBrowse link 12 37,680,152 37,682,994 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
Congenital Infantile Lactic Acidosis due to LAD Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dld dihydrolipoamide dehydrogenase JBrowse link 6 50,597,677 50,618,694 RGD:7240710
RGD:8554872
Copper-Overload Cirrhosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acta2 actin alpha 2, smooth muscle JBrowse link 1 252,537,614 252,550,394 RGD:11554173
G Casp3 caspase 3 JBrowse link 16 48,845,011 48,863,249 RGD:11554173
G Commd1 copper metabolism domain containing 1 JBrowse link 14 107,664,321 107,759,974 RGD:11554173
G Hgf hepatocyte growth factor JBrowse link 4 15,435,460 15,505,377 RGD:11554173
G Krt19 keratin 19 JBrowse link 10 88,055,843 88,060,560 RGD:11554173
G Krt7 keratin 7 JBrowse link 7 143,059,731 143,075,907 RGD:11554173
G Met MET proto-oncogene, receptor tyrosine kinase JBrowse link 4 44,747,467 44,854,628 RGD:11554173
G Mki67 marker of proliferation Ki-67 JBrowse link 1 207,993,895 208,020,454 RGD:11554173
G Smad2 SMAD family member 2 JBrowse link 18 72,550,107 72,612,078 RGD:11554173
G Stat3 signal transducer and activator of transcription 3 JBrowse link 10 88,790,401 88,842,263 RGD:11554173
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:11554173
creatine transporter deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc6a8 solute carrier family 6 member 8 JBrowse link X 157,129,987 157,139,321 RGD:7240710
RGD:8554872
RGD:11554173
CST3-related cerebral amyloid angiopathy 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:8554872
G Cst3 cystatin C JBrowse link 3 143,219,671 143,223,544 RGD:7240710
RGD:8554872
RGD:11554173
D-2-hydroxyglutaric aciduria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G D2hgdh D-2-hydroxyglutarate dehydrogenase JBrowse link 9 100,956,570 100,974,393 RGD:8554872
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 JBrowse link 1 141,874,354 141,893,674 RGD:13506812
D-2-hydroxyglutaric aciduria 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G D2hgdh D-2-hydroxyglutarate dehydrogenase JBrowse link 9 100,956,570 100,974,393 RGD:8554872
RGD:7240710
G Gjb1 gap junction protein, beta 1 JBrowse link X 71,272,030 71,279,973 RGD:8554872
D-2-hydroxyglutaric aciduria 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 JBrowse link 1 141,874,354 141,893,674 RGD:8554872
RGD:7240710
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
ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mff mitochondrial fission factor JBrowse link 9 88,490,280 88,518,517 RGD:8554872
RGD:7240710
Fabry disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ace angiotensin I converting enzyme JBrowse link 10 94,170,766 94,213,831 RGD:12879402
G Agt angiotensinogen JBrowse link 19 57,321,594 57,333,460 RGD:13432161
G Ar androgen receptor JBrowse link X 67,656,253 67,828,998 RGD:11576234
G Gla galactosidase, alpha JBrowse link X 105,405,915 105,417,331 RGD:1601350
RGD:8554872
RGD:11554173
RGD:7240710
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:6907117
G Mylk2 myosin light chain kinase 2 JBrowse link 3 148,386,185 148,397,851 RGD:8554872
G Vdr vitamin D receptor JBrowse link 7 139,344,452 139,394,138 RGD:13432071
Fabry Disease, Cardiac Variant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gla galactosidase, alpha JBrowse link X 105,405,915 105,417,331 RGD:8554872
Farber lipogranulomatosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Asah1 N-acylsphingosine amidohydrolase 1 JBrowse link 16 53,998,604 54,030,006 RGD:7240710
RGD:8554872
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:11554173
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ncaph2 non-SMC condensin II complex, subunit H2 JBrowse link 7 130,326,597 130,343,655 RGD:8554872
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Coa5 cytochrome C oxidase assembly factor 5 JBrowse link 9 44,011,471 44,024,876 RGD:11554173
G Coa6 cytochrome c oxidase assembly factor 6 JBrowse link 19 59,327,328 59,333,706 RGD:11554173
G Cox15 cytochrome c oxidase assembly homolog COX15 JBrowse link 1 263,494,850 263,511,510 RGD:11554173
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cox15 cytochrome c oxidase assembly homolog COX15 JBrowse link 1 263,494,850 263,511,510 RGD:8554872
RGD:7240710
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Coa5 cytochrome C oxidase assembly factor 5 JBrowse link 9 44,011,471 44,024,876 RGD:8554872
RGD:7240710
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Coa6 cytochrome c oxidase assembly factor 6 JBrowse link 19 59,327,328 59,333,706 RGD:8554872
RGD:7240710
French Canadian Leigh disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrpprc leucine-rich pentatricopeptide repeat containing JBrowse link 6 7,984,043 8,066,874 RGD:7240710
RGD:8554872
RGD:11554173
G Surf1 SURF1, cytochrome c oxidase assembly factor JBrowse link 3 5,461,717 5,464,560 RGD:11554173
fucosidosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcx doublecortin JBrowse link X 115,098,675 115,175,515 RGD:8554872
G Fuca1 alpha-L-fucosidase 1 JBrowse link 5 154,269,296 154,286,545 RGD:1598969
RGD:8554872
RGD:7240710
galactokinase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Galk1 galactokinase 1 JBrowse link 10 104,560,322 104,564,499 RGD:8554872
RGD:7240710
G Itgb4 integrin subunit beta 4 JBrowse link 10 104,524,000 104,560,180 RGD:8554872
galactose epimerase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gale UDP-galactose-4-epimerase JBrowse link 5 154,310,453 154,314,959 RGD:8554872
RGD:7240710
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase JBrowse link 5 154,294,841 154,308,582 RGD:8554872
galactosemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akr1b1 aldo-keto reductase family 1 member B JBrowse link 4 61,706,866 61,720,959 RGD:1599728
G Cryaa crystallin, alpha A JBrowse link 20 10,438,444 10,442,189 RGD:1600994
G Ddit3 DNA-damage inducible transcript 3 JBrowse link 7 70,578,564 70,585,074 RGD:1599728
G Gale UDP-galactose-4-epimerase JBrowse link 5 154,310,453 154,314,959 RGD:11554173
G Galk1 galactokinase 1 JBrowse link 10 104,560,322 104,564,499 RGD:11554173
G Galt galactose-1-phosphate uridylyltransferase JBrowse link 5 58,144,679 58,147,946 RGD:8554872
RGD:11554173
G Il11ra1 interleukin 11 receptor subunit alpha 1 JBrowse link 5 58,149,150 58,159,072 RGD:8554872
Gaucher Disease, Type IIIc term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gba glucosylceramidase beta JBrowse link 2 188,511,781 188,522,602 RGD:7240710
RGD:8554872
Gaucher's disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ace angiotensin I converting enzyme JBrowse link 10 94,170,766 94,213,831 RGD:11554173
G Chit1 chitinase 1 JBrowse link 13 50,947,020 50,994,644 RGD:11554173
G Gba glucosylceramidase beta JBrowse link 2 188,511,781 188,522,602 RGD:5508423
RGD:8554872
RGD:11554173
RGD:12791018
RGD:12791017
RGD:5508431
G Il4 interleukin 4 JBrowse link 10 38,963,979 38,969,531 RGD:5128511
G Pklr pyruvate kinase L/R JBrowse link 2 188,449,158 188,458,034 RGD:11535995
G Snca synuclein alpha JBrowse link 4 90,782,412 90,883,236 RGD:11554173
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:12904037
Gaucher's disease perinatal lethal term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gba glucosylceramidase beta JBrowse link 2 188,511,781 188,522,602 RGD:7240710
RGD:8554872
Gaucher's disease type I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gba glucosylceramidase beta JBrowse link 2 188,511,781 188,522,602 RGD:8554872
RGD:7240710
G Msh6 mutS homolog 6 JBrowse link 6 11,644,565 11,662,389 RGD:8554872
Gaucher's disease type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gba glucosylceramidase beta JBrowse link 2 188,511,781 188,522,602 RGD:8554872
RGD:7240710
Gaucher's disease type III term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gba glucosylceramidase beta JBrowse link 2 188,511,781 188,522,602 RGD:8554872
RGD:7240710
glutaric acidemia I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acadvl acyl-CoA dehydrogenase, very long chain JBrowse link 10 56,619,321 56,624,468 RGD:10047115
G Gcdh glutaryl-CoA dehydrogenase JBrowse link 19 26,000,497 26,006,970 RGD:7240710
RGD:8554872
RGD:13515124
RGD:11554173
G Syce2 synaptonemal complex central element protein 2 JBrowse link 19 25,982,003 26,002,399 RGD:8554872
glycine encephalopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Amt aminomethyltransferase JBrowse link 8 117,068,388 117,078,633 RGD:1599106
RGD:8554872
RGD:11073529
RGD:12879455
RGD:11554173
RGD:7240710
G Gcsh glycine cleavage system protein H JBrowse link 19 49,522,054 49,532,811 RGD:7240710
RGD:8554872
G Gldc glycine decarboxylase JBrowse link 1 248,295,140 248,377,122 RGD:7240710
RGD:8554872
RGD:12904646
RGD:11062733
RGD:11554173
G Kdm4c lysine demethylase 4C JBrowse link 5 90,800,139 91,012,662 RGD:8554872
G Nicn1 nicolin 1 JBrowse link 8 117,062,989 117,068,134 RGD:8554872
G Slc6a9 solute carrier family 6 member 9 JBrowse link 5 136,669,674 136,703,702 RGD:13592920
GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc6a9 solute carrier family 6 member 9 JBrowse link 5 136,669,674 136,703,702 RGD:8554872
RGD:7240710
glycogen storage disease II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc40 coiled-coil domain containing 40 JBrowse link 10 108,055,270 108,393,408 RGD:8554872
G Gaa glucosidase, alpha, acid JBrowse link 10 108,395,873 108,412,999 RGD:7240710
RGD:8554872
RGD:11554173
G Tnnt2 troponin T2, cardiac type JBrowse link 13 52,662,974 52,680,992 RGD:11554173
glycoproteinosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chpt1 choline phosphotransferase 1 JBrowse link 7 29,019,518 29,070,928 RGD:8554872
G Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta JBrowse link 7 28,956,363 29,023,232 RGD:8554872
G Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma JBrowse link 10 14,593,050 14,597,995 RGD:1599045
G Mcoln1 mucolipin 1 JBrowse link 12 2,054,629 2,068,682 RGD:1599926
G Neu1 neuraminidase 1 JBrowse link 20 4,610,995 4,615,258 RGD:8554872
RGD:13592920
G Sgsh N-sulfoglucosamine sulfohydrolase JBrowse link 10 108,469,312 108,479,094 RGD:8554872
GM1 gangliosidosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Glb1 galactosidase, beta 1 JBrowse link 8 122,439,328 122,511,939 RGD:1598983
RGD:8554872
RGD:11554173
RGD:11086251
RGD:12910453
G Tmppe transmembrane protein with metallophosphoesterase domain JBrowse link 8 122,439,679 122,447,208 RGD:8554872
GM1 gangliosidosis type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Glb1 galactosidase, beta 1 JBrowse link 8 122,439,328 122,511,939 RGD:8554872
RGD:7240710
G Tmppe transmembrane protein with metallophosphoesterase domain JBrowse link 8 122,439,679 122,447,208 RGD:8554872
GM1 gangliosidosis type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Glb1 galactosidase, beta 1 JBrowse link 8 122,439,328 122,511,939 RGD:8554872
RGD:7240710
G Tmppe transmembrane protein with metallophosphoesterase domain JBrowse link 8 122,439,679 122,447,208 RGD:8554872
GM1 gangliosidosis type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Glb1 galactosidase, beta 1 JBrowse link 8 122,439,328 122,511,939 RGD:7240710
RGD:8554872
G Tmppe transmembrane protein with metallophosphoesterase domain JBrowse link 8 122,439,679 122,447,208 RGD:8554872
GM2 gangliosidosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gm2a GM2 ganglioside activator JBrowse link 10 40,438,394 40,450,927 RGD:1598993
G Hexa hexosaminidase subunit alpha JBrowse link 8 64,325,435 64,350,775 RGD:8554872
G Snca synuclein alpha JBrowse link 4 90,782,412 90,883,236 RGD:6480199
G Sncb synuclein, beta JBrowse link 17 10,384,472 10,392,776 RGD:6480199
GM2 Gangliosidosis, AB variant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gm2a GM2 ganglioside activator JBrowse link 10 40,438,394 40,450,927 RGD:7240710
RGD:8554872
Gm2-Gangliosidosis, Adult Chronic Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hexa hexosaminidase subunit alpha JBrowse link 8 64,325,435 64,350,775 RGD:8554872
Gm2-Gangliosidosis, Variant B1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hexa hexosaminidase subunit alpha JBrowse link 8 64,325,435 64,350,775 RGD:8554872
Hartnup disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc6a19 solute carrier family 6 member 19 JBrowse link 1 32,199,869 32,218,628 RGD:1600035
RGD:8554872
RGD:7240710
hawkinsinuria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hpd 4-hydroxyphenylpyruvate dioxygenase JBrowse link 12 38,828,606 38,839,956 RGD:7240710
RGD:8554872
hepatic encephalopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcb1b ATP-binding cassette, subfamily B (MDR/TAP), member 1B JBrowse link 4 22,225,123 22,307,577 RGD:10395388
G Ccl2 C-C motif chemokine ligand 2 JBrowse link 10 69,412,065 69,413,863 RGD:14995926
G Epor erythropoietin receptor JBrowse link 8 22,969,737 22,974,468 RGD:10395388
G G6pd glucose-6-phosphate dehydrogenase JBrowse link X 156,274,800 156,293,935 RGD:10449131
G Gabra1 gamma-aminobutyric acid type A receptor alpha1 subunit JBrowse link 10 27,310,718 27,371,802 RGD:6480237
RGD:11554173
G Gabrb1 gamma-aminobutyric acid type A receptor beta 1 subunit JBrowse link 14 38,631,192 39,112,598 RGD:6480237
RGD:11554173
G Gabrg2 gamma-aminobutyric acid type A receptor gamma 2 subunit JBrowse link 10 27,090,913 27,179,786 RGD:6480237
RGD:11554173
G Gc GC, vitamin D binding protein JBrowse link 14 20,267,023 20,302,577 RGD:5509929
RGD:11554173
G Glud1 glutamate dehydrogenase 1 JBrowse link 16 10,661,486 10,695,557 RGD:6484661
G Glul glutamate-ammonia ligase JBrowse link 13 71,331,052 71,340,207 RGD:11554173
G Gria1 glutamate ionotropic receptor AMPA type subunit 1 JBrowse link 10 42,441,723 42,760,200 RGD:4108489
G Hif1a hypoxia inducible factor 1 subunit alpha JBrowse link 6 96,810,868 96,856,303 RGD:10395388
G Hmox1 heme oxygenase 1 JBrowse link 19 14,508,634 14,515,455 RGD:10766445
G Insr insulin receptor JBrowse link 12 1,682,527 1,816,414 RGD:14700777
G Lta lymphotoxin alpha JBrowse link 20 4,851,889 4,854,677 RGD:11554173
G Maoa monoamine oxidase A JBrowse link X 6,554,698 6,620,722 RGD:11554173
G Maob monoamine oxidase B JBrowse link X 6,430,694 6,533,520 RGD:11554173
G Nos1 nitric oxide synthase 1 JBrowse link 12 44,214,949 44,405,530 RGD:1642151
RGD:11554173
RGD:5132590
G Nos2 nitric oxide synthase 2 JBrowse link 10 66,188,290 66,221,621 RGD:5132590
G Oprm1 opioid receptor, mu 1 JBrowse link 1 43,454,803 43,704,948 RGD:11554173
G Prkdc protein kinase, DNA-activated, catalytic subunit JBrowse link 11 89,293,547 89,510,948 RGD:11554173
G Ptgs1 prostaglandin-endoperoxide synthase 1 JBrowse link 3 15,560,685 15,582,339 RGD:5688266
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:14995440
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:11554173
G Tspo translocator protein JBrowse link 7 124,460,358 124,470,610 RGD:11554173
homocarnosinosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cndp1 carnosine dipeptidase 1 JBrowse link 18 81,466,717 81,512,841 RGD:11554173
homocystinuria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cbs cystathionine beta synthase JBrowse link 20 10,361,987 10,386,663 RGD:1600622
RGD:8554872
RGD:7240710
G Fcrl2 Fc receptor-like 2 JBrowse link 2 186,594,442 186,605,115 RGD:1601421
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:1601421
RGD:13592920
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase JBrowse link 1 37,743,089 37,774,485 RGD:5508189
RGD:11554173
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin JBrowse link 9 26,164,969 26,736,704 RGD:8554872
Homocystinuria, Pyridoxine-Responsive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cbs cystathionine beta synthase JBrowse link 20 10,361,987 10,386,663 RGD:8554872
Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase JBrowse link 1 37,743,089 37,774,485 RGD:7240710
RGD:8554872
hyperargininemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arg1 arginase 1 JBrowse link 1 21,525,421 21,537,872 RGD:1599208
RGD:8554872
RGD:7240710
G Arntl aryl hydrocarbon receptor nuclear translocator-like JBrowse link 1 178,039,002 178,137,469 RGD:11554173
G Med23 mediator complex subunit 23 JBrowse link 1 21,539,765 21,587,675 RGD:8554872
Hyperglycinemia, Lactic Acidosis, and Seizures term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lias lipoic acid synthetase JBrowse link 14 44,507,217 44,524,287 RGD:7240710
RGD:8554872
G Rpl9 ribosomal protein L9 JBrowse link 14 44,524,419 44,527,613 RGD:8554872
G Ugdh UDP-glucose 6-dehydrogenase JBrowse link 14 44,479,614 44,502,845 RGD:8554872
hyperlysinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aass aminoadipate-semialdehyde synthase JBrowse link 4 50,152,005 50,208,935 RGD:7240710
RGD:8554872
Hyperphenylalaninemia with Primapterinuria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pcbd1 pterin-4 alpha-carbinolamine dehydratase 1 JBrowse link 20 30,689,690 30,696,465 RGD:7240710
RGD:8554872
Hyperphenylalaninemia, BH4-Deficient, B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gch1 GTP cyclohydrolase 1 JBrowse link 15 23,935,011 23,968,971 RGD:7240710
RGD:8554872
Hyperphenylalaninemia, BH4-Deficient, C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Qdpr quinoid dihydropteridine reductase JBrowse link 14 70,164,682 70,178,284 RGD:7240710
RGD:8554872
Hyperphenylalaninemia, BH4-Deficient, due to Partial PTS Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pts 6-pyruvoyl-tetrahydropterin synthase JBrowse link 8 54,954,261 54,961,271 RGD:8554872
HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnajc12 DnaJ heat shock protein family (Hsp40) member C12 JBrowse link 20 26,893,139 26,913,041 RGD:8554872
RGD:7240710
Hyperphenylalaninemia, Non-Pku Mild term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pah phenylalanine hydroxylase JBrowse link 7 28,066,639 28,129,772 RGD:8554872
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 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 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Degs1 delta(4)-desaturase, sphingolipid 1 JBrowse link 13 100,665,265 100,672,731 RGD:7240710
RGD:8554872
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 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
hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polr3b RNA polymerase III subunit B JBrowse link 7 24,745,051 24,851,227 RGD:7240710
RGD:8554872
hypomyelinating leukodystrophy 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rars1 arginyl-tRNA synthetase 1 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
inclusion-cell disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chpt1 choline phosphotransferase 1 JBrowse link 7 29,019,518 29,070,928 RGD:8554872
G Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta JBrowse link 7 28,956,363 29,023,232 RGD:8554872
RGD:7240710
infantile Refsum disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gatad1 GATA zinc finger domain containing 1 JBrowse link 4 27,647,005 27,658,533 RGD:8554872
G Pex1 peroxisomal biogenesis factor 1 JBrowse link 4 27,659,376 27,698,037 RGD:7240710
RGD:8554872
G Pex12 peroxisomal biogenesis factor 12 JBrowse link 10 70,512,785 70,516,494 RGD:8554872
G Pex2 peroxisomal biogenesis factor 2 JBrowse link 2 98,251,756 98,269,185 RGD:11554173
G Pex26 peroxisomal biogenesis factor 26 JBrowse link 4 153,747,715 153,760,446 RGD:11554173
G Pex5 peroxisomal biogenesis factor 5 JBrowse link 4 156,983,914 157,009,675 RGD:8554872
Infantile Sialic Storage Disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc17a5 solute carrier family 17 member 5 JBrowse link 8 85,891,245 85,926,466 RGD:8554872
RGD:7240710
INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY 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:7240710
RGD:8554872
ITM2B-related cerebral amyloid angiopathy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itm2b integral membrane protein 2B JBrowse link 15 55,254,703 55,277,713 RGD:1358403
RGD:8554872
RGD:7240710
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
L-2-hydroxyglutaric aciduria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dmac2l distal membrane arm assembly complex 2 like JBrowse link 6 92,057,782 92,076,022 RGD:8554872
G L2hgdh L-2-hydroxyglutarate dehydrogenase JBrowse link 6 92,016,560 92,057,643 RGD:8554872
RGD:7240710
RGD:13506824
G Sos2 SOS Ras/Rho guanine nucleotide exchange factor 2 JBrowse link 6 91,885,292 92,008,059 RGD:8554872
G Vcpkmt valosin containing protein lysine methyltransferase JBrowse link 6 91,880,342 91,884,336 RGD:8554872
Leigh disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone JBrowse link 9 81,868,158 81,872,201 RGD:7240710
RGD:8554872
G Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 JBrowse link 10 50,439,778 50,563,920 RGD:7240710
RGD:8554872
G Cox15 cytochrome c oxidase assembly homolog COX15 JBrowse link 1 263,494,850 263,511,510 RGD:1598467
RGD:8554872
RGD:7240710
G Dld dihydrolipoamide dehydrogenase JBrowse link 6 50,597,677 50,618,694 RGD:8554872
G Echs1 enoyl-CoA hydratase, short chain 1 JBrowse link 1 212,570,213 212,579,040 RGD:8554872
RGD:11554173
G Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit JBrowse link 2 39,434,617 39,473,392 RGD:8554872
G Foxred1 FAD-dependent oxidoreductase domain containing 1 JBrowse link 8 36,401,317 36,410,589 RGD:8554872
G Gamt guanidinoacetate N-methyltransferase JBrowse link 7 12,314,848 12,317,998 RGD:8554872
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial JBrowse link 13 103,229,868 103,265,019 RGD:8554872
G Lamb1 laminin subunit beta 1 JBrowse link 6 50,528,796 50,596,593 RGD:8554872
G Lrpprc leucine-rich pentatricopeptide repeat containing JBrowse link 6 7,984,043 8,066,874 RGD:1600674
RGD:8554872
RGD:1600676
G Mrps34 mitochondrial ribosomal protein S34 JBrowse link 10 14,257,001 14,258,132 RGD:8554872
G Mt-atp6 mitochondrially encoded ATP synthase 6 JBrowse link MT 7,919 8,599 RGD:8554872
G Mt-co3 mitochondrially encoded cytochrome c oxidase III JBrowse link MT 8,599 9,382 RGD:8554872
G Mt-nd1 mitochondrially encoded NADH dehydrogenase 1 JBrowse link MT 2,740 3,694 RGD:8554872
G Mt-nd2 mitochondrially encoded NADH dehydrogenase 2 JBrowse link MT 3,904 4,942 RGD:8554872
G Mt-nd3 mitochondrially encoded NADH dehydrogenase 3 JBrowse link MT 9,451 9,798 RGD:5507824
RGD:8554872
G Mt-nd4 mitochondrially encoded NADH dehydrogenase 4 JBrowse link MT 10,160 11,537 RGD:8554872
G Mt-nd5 mitochondrially encoded NADH dehydrogenase 5 JBrowse link MT 11,736 13,565 RGD:5491185
RGD:8554872
G Mt-nd6 mitochondrially encoded NADH dehydrogenase 6 JBrowse link MT 13,543 14,061 RGD:6482231
RGD:8554872
G Mtfmt mitochondrial methionyl-tRNA formyltransferase JBrowse link 8 70,952,209 70,986,393 RGD:8554872
G Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 JBrowse link 9 99,617,051 99,651,827 RGD:8554872
G Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 JBrowse link 2 39,322,145 39,434,535 RGD:8554872
G Ndufaf5 NADH:ubiquinone oxidoreductase complex assembly factor 5 JBrowse link 3 133,232,412 133,261,932 RGD:8554872
G Ndufaf6 NADH:ubiquinone oxidoreductase complex assembly factor 6 JBrowse link 5 24,297,169 24,320,804 RGD:8554872
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 JBrowse link 9 69,919,863 69,953,182 RGD:8554872
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 JBrowse link 13 89,606,848 89,623,506 RGD:6482269
G Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 JBrowse link 3 79,721,686 79,728,863 RGD:11554173
RGD:8554872
G Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 JBrowse link 2 46,372,488 46,476,162 RGD:6484662
RGD:8554872
RGD:12914767
RGD:12914766
RGD:11554173
RGD:6484698
RGD:6484669
G Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 JBrowse link 7 12,318,776 12,326,403 RGD:8554872
G Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 JBrowse link 1 219,141,289 219,144,610 RGD:8554872
G Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 JBrowse link 1 219,254,293 219,259,328 RGD:8554872
G Parl presenilin associated, rhomboid-like JBrowse link 11 84,517,368 84,544,463 RGD:13592920
G Sco1 SCO cytochrome c oxidase assembly protein 1 JBrowse link 10 53,595,854 53,608,437 RGD:8554872
G Sdha succinate dehydrogenase complex flavoprotein subunit A JBrowse link 1 31,545,631 31,570,601 RGD:724604
RGD:8554872
RGD:7240710
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:13592920
G Surf1 SURF1, cytochrome c oxidase assembly factor JBrowse link 3 5,461,717 5,464,560 RGD:1599193
RGD:8554872
RGD:7240710
RGD:11554173
G Taco1 translational activator of cytochrome c oxidase I JBrowse link 10 94,260,148 94,268,276 RGD:11554173
G Tcirg1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 JBrowse link 1 219,126,687 219,139,466 RGD:8554872
G Timmdc1 translocase of inner mitochondrial membrane domain containing 1 JBrowse link 11 64,790,801 64,815,484 RGD:8554872
Leigh Syndrome Due To Mitochondrial Complex I Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxred1 FAD-dependent oxidoreductase domain containing 1 JBrowse link 8 36,401,317 36,410,589 RGD:8554872
G Mt-nd2 mitochondrially encoded NADH dehydrogenase 2 JBrowse link MT 3,904 4,942 RGD:8554872
G Mt-nd3 mitochondrially encoded NADH dehydrogenase 3 JBrowse link MT 9,451 9,798 RGD:8554872
G Mt-nd5 mitochondrially encoded NADH dehydrogenase 5 JBrowse link MT 11,736 13,565 RGD:8554872
G Mt-nd6 mitochondrially encoded NADH dehydrogenase 6 JBrowse link MT 13,543 14,061 RGD:8554872
G Mtfmt mitochondrial methionyl-tRNA formyltransferase JBrowse link 8 70,952,209 70,986,393 RGD:8554872
G Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 JBrowse link 9 99,617,051 99,651,827 RGD:8554872
G Ndufa12 NADH:ubiquinone oxidoreductase subunit A12 JBrowse link 7 35,125,516 35,163,182 RGD:8554872
G Ndufa2 NADH:ubiquinone oxidoreductase subunit A2 JBrowse link 18 29,585,671 29,587,760 RGD:8554872
G Ndufa9 NADH:ubiquinone oxidoreductase subunit A9 JBrowse link 4 159,371,263 159,399,636 RGD:8554872
G Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 JBrowse link 2 39,322,145 39,434,535 RGD:8554872
G Ndufaf6 NADH:ubiquinone oxidoreductase complex assembly factor 6 JBrowse link 5 24,297,169 24,320,804 RGD:8554872
G Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 JBrowse link 3 79,721,686 79,728,863 RGD:8554872
G Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 JBrowse link 2 46,372,488 46,476,162 RGD:8554872
G Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 JBrowse link 7 12,318,776 12,326,403 RGD:8554872
G Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 JBrowse link 1 219,141,289 219,144,610 RGD:8554872
G Tmco6 transmembrane and coiled-coil domains 6 JBrowse link 18 29,579,145 29,585,740 RGD:8554872
Leigh Syndrome due to Mitochondrial Complex II Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sdha succinate dehydrogenase complex flavoprotein subunit A JBrowse link 1 31,545,631 31,570,601 RGD:8554872
Leigh Syndrome due to Mitochondrial Complex III Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone JBrowse link 9 81,868,158 81,872,201 RGD:8554872
Leigh Syndrome due to Mitochondrial Complex IV Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 JBrowse link 10 50,439,778 50,563,920 RGD:8554872
G Cox15 cytochrome c oxidase assembly homolog COX15 JBrowse link 1 263,494,850 263,511,510 RGD:8554872
G Surf1 SURF1, cytochrome c oxidase assembly factor JBrowse link 3 5,461,717 5,464,560 RGD:8554872
Leigh Syndrome, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdha1 pyruvate dehydrogenase E1 alpha 1 subunit JBrowse link X 37,329,779 37,343,410 RGD:8554872
Lesch-Nyhan syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hprt1 hypoxanthine phosphoribosyltransferase 1 JBrowse link X 158,196,640 158,228,815 RGD:7240710
RGD:8554872
RGD:13463104
RGD:13462064
G Xdh xanthine dehydrogenase JBrowse link 6 25,149,570 25,211,273 RGD:7247657
Lesch-Nyhan Syndrome, Neurologic Variant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hprt1 hypoxanthine phosphoribosyltransferase 1 JBrowse link X 158,196,640 158,228,815 RGD:8554872
RGD:13463104
Lethal Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep55 centrosomal protein 55 JBrowse link 1 256,745,251 256,760,794 RGD:8554872
G Dnm1l dynamin 1-like JBrowse link 11 88,830,968 88,882,271 RGD:7240710
RGD:8554872
G Osbpl7 oxysterol binding protein-like 7 JBrowse link 10 84,986,330 85,003,947 RGD:8554872
G Yars2 tyrosyl-tRNA synthetase 2 JBrowse link 11 88,882,615 88,888,377 RGD:8554872
Lipoyltransferase 1 Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lipt1 lipoyltransferase 1 JBrowse link 9 44,466,627 44,471,986 RGD:8554872
G Mitd1 microtubule interacting and trafficking domain containing 1 JBrowse link 9 44,472,364 44,483,723 RGD:8554872
maple syrup urine disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bcat2 branched chain amino acid transaminase 2 JBrowse link 1 101,553,900 101,572,103 RGD:1300291
RGD:11554173
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha JBrowse link 1 82,423,291 82,452,094 RGD:737779
RGD:8554872
RGD:7240710
RGD:734637
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta JBrowse link 8 91,464,229 91,656,134 RGD:1599466
RGD:8554872
RGD:7240710
G Dbt dihydrolipoamide branched chain transacylase E2 JBrowse link 2 219,563,783 219,592,651 RGD:7240710
RGD:8554872
G Dld dihydrolipoamide dehydrogenase JBrowse link 6 50,597,677 50,618,694 RGD:8554872
RGD:13592920
G Lamb1 laminin subunit beta 1 JBrowse link 6 50,528,796 50,596,593 RGD:8554872
G Ppm1k protein phosphatase, Mg2+/Mn2+ dependent, 1K JBrowse link 4 88,694,395 88,721,374 RGD:8554872
RGD:7240710
Maple Syrup Urine Disease, Type 1A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha JBrowse link 1 82,423,291 82,452,094 RGD:8554872
Maple Syrup Urine Disease, Type 1B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bckdhb branched chain keto acid dehydrogenase E1 subunit beta JBrowse link 8 91,464,229 91,656,134 RGD:8554872
Maple Syrup Urine Disease, Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dbt dihydrolipoamide branched chain transacylase E2 JBrowse link 2 219,563,783 219,592,651 RGD:8554872
Maternal Phenylketonuria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pah phenylalanine hydroxylase JBrowse link 7 28,066,639 28,129,772 RGD:1601526
G Psph phosphoserine phosphatase JBrowse link 12 30,514,128 30,526,551 RGD:2308873
Maternally Inherited Leigh Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mt-atp6 mitochondrially encoded ATP synthase 6 JBrowse link MT 7,919 8,599 RGD:5490262
RGD:11554173
RGD:5490291
RGD:5490270
G Mt-nd1 mitochondrially encoded NADH dehydrogenase 1 JBrowse link MT 2,740 3,694 RGD:5148009
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
MELAS syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:11554173
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:11554173
G Mt-co1 mitochondrially encoded cytochrome c oxidase I JBrowse link MT 5,323 6,867 RGD:11554173
RGD:8554872
G Mt-co2 mitochondrially encoded cytochrome c oxidase II JBrowse link MT 7,006 7,689 RGD:11554173
G Mt-co3 mitochondrially encoded cytochrome c oxidase III JBrowse link MT 8,599 9,382 RGD:5491184
RGD:11554173
G Mt-cyb mitochondrially encoded cytochrome b JBrowse link MT 14,136 15,278 RGD:11554173
G Mt-nd1 mitochondrially encoded NADH dehydrogenase 1 JBrowse link MT 2,740 3,694 RGD:5490235
RGD:8554872
RGD:11554173
G Mt-nd4 mitochondrially encoded NADH dehydrogenase 4 JBrowse link MT 10,160 11,537 RGD:8554872
G Mt-nd5 mitochondrially encoded NADH dehydrogenase 5 JBrowse link MT 11,736 13,565 RGD:5491173
RGD:8554872
RGD:11554173
RGD:5507825
RGD:5491184
G Mt-nd6 mitochondrially encoded NADH dehydrogenase 6 JBrowse link MT 13,543 14,061 RGD:11554173
RGD:8554872
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 JBrowse link 9 69,919,863 69,953,182 RGD:8554872
G Sod1 superoxide dismutase 1 JBrowse link 11 30,363,282 30,368,858 RGD:11554173
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:11554173
Menkes disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp7a ATPase copper transporting alpha JBrowse link X 77,076,085 77,193,644 RGD:734621
RGD:8554872
RGD:12879459
RGD:11554173
RGD:11340200
RGD:11252186
RGD:11252183
RGD:11252182
RGD:7240710
G Cp ceruloplasmin JBrowse link 2 104,744,249 104,803,034 RGD:11554173
G Lox lysyl oxidase JBrowse link 18 47,500,320 47,577,819 RGD:1581895
RGD:13592920
MERRF Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:11554173
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:11554173
G Mt-nd5 mitochondrially encoded NADH dehydrogenase 5 JBrowse link MT 11,736 13,565 RGD:8554872
Metabolic Brain Diseases, Inborn term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Folr1 folate receptor alpha JBrowse link 1 166,934,457 166,945,864 RGD:11554173
G Glul glutamate-ammonia ligase JBrowse link 13 71,331,052 71,340,207 RGD:11554173
G Mc2r melanocortin 2 receptor JBrowse link 18 64,166,959 64,178,729 RGD:1600745
RGD:1600747
G Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 JBrowse link 2 39,322,145 39,434,535 RGD:11554173
G Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 JBrowse link 2 46,372,488 46,476,162 RGD:6484689
Metabolic Crises, Recurrent, with Variable Encephalomyopathic Features and Neurologic Regression term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc25a42 solute carrier family 25, member 42 JBrowse link 16 20,962,144 21,000,191 RGD:8554872
RGD:7240710
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 Arsb arylsulfatase B JBrowse link 2 23,385,154 23,543,028 RGD:8554872
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
Methylenetetrahydrofolate Reductase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:7240710
RGD:8554872
methylmalonic aciduria and homocystinuria type cblC term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mmachc metabolism of cobalamin associated C JBrowse link 5 135,555,587 135,561,723 RGD:7240710
RGD:8554872
G Prdx1 peroxiredoxin 1 JBrowse link 5 135,536,413 135,551,986 RGD:8554872
RGD:7240710
Methylmalonic Aciduria and Homocystinuria, cblJ Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcd4 ATP binding cassette subfamily D member 4 JBrowse link 6 108,315,026 108,329,550 RGD:7240710
RGD:8554872
mevalonic aciduria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crp C-reactive protein JBrowse link 13 91,080,448 91,081,358 RGD:9585642
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase JBrowse link 2 27,480,224 27,500,654 RGD:11554173
G Mmab metabolism of cobalamin associated B JBrowse link 12 47,920,712 47,935,438 RGD:8554872
G Mvk mevalonate kinase JBrowse link 12 47,904,266 47,920,457 RGD:7240710
RGD:11554173
RGD:8554872
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:9585642
microvillus inclusion disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdc42 cell division cycle 42 JBrowse link 5 155,690,267 155,728,385 RGD:13592920
G Myo5b myosin Vb JBrowse link 18 70,426,865 70,729,985 RGD:7240710
RGD:8554872
mitochondrial complex V (ATP synthase) deficiency nuclear type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem70 transmembrane protein 70 JBrowse link 5 2,019,852 2,037,038 RGD:7240710
RGD:8554872
mitochondrial DNA depletion syndrome 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbxl4 F-box and leucine-rich repeat protein 4 JBrowse link 5 36,555,061 36,628,920 RGD:7240710
RGD:8554872
mitochondrial DNA depletion syndrome 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Opa1 OPA1, mitochondrial dynamin like GTPase JBrowse link 11 74,717,600 74,793,902 RGD:8554872
RGD:7240710
mitochondrial DNA depletion syndrome 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tfam transcription factor A, mitochondrial JBrowse link 20 18,594,057 18,606,106 RGD:8554872
RGD:7240710
mitochondrial DNA depletion syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dguok deoxyguanosine kinase JBrowse link 4 115,180,433 115,208,061 RGD:7240710
RGD:8554872
G Mpv17 mitochondrial inner membrane protein MPV17 JBrowse link 6 26,585,713 26,600,265 RGD:13592920
G Twnk twinkle mtDNA helicase JBrowse link 1 264,756,060 264,762,892 RGD:8554872
mitochondrial DNA depletion syndrome 4A 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:7240710
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
mitochondrial DNA depletion syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sucla2 succinate-CoA ligase ADP-forming beta subunit JBrowse link 15 55,461,695 55,516,954 RGD:7240710
RGD:8554872
mitochondrial DNA depletion syndrome 8A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ncaph2 non-SMC condensin II complex, subunit H2 JBrowse link 7 130,326,597 130,343,655 RGD:8554872
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8554872
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B JBrowse link 7 76,750,045 76,780,817 RGD:8554872
RGD:7240710
G Tymp thymidine phosphorylase JBrowse link 7 130,342,481 130,347,845 RGD:8554872
mitochondrial encephalomyopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Coq7 coenzyme Q7, hydroxylase JBrowse link 1 188,176,060 188,190,874 RGD:10402107
G Dnm1l dynamin 1-like JBrowse link 11 88,830,968 88,882,271 RGD:11554173
G Fars2 phenylalanyl-tRNA synthetase 2, mitochondrial JBrowse link 17 29,006,981 29,438,906 RGD:8554872
G Fbxl4 F-box and leucine-rich repeat protein 4 JBrowse link 5 36,555,061 36,628,920 RGD:8554872
G Foxred1 FAD-dependent oxidoreductase domain containing 1 JBrowse link 8 36,401,317 36,410,589 RGD:11554173
G Mff mitochondrial fission factor JBrowse link 9 88,490,280 88,518,517 RGD:8554872
G Mt-cyb mitochondrially encoded cytochrome b JBrowse link MT 14,136 15,278 RGD:8554872
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 JBrowse link 13 89,606,848 89,623,506 RGD:11554173
G Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 JBrowse link 9 113,875,718 113,900,169 RGD:11554173
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8694177
G RGD1563482 similar to hypothetical protein FLJ38663 JBrowse link 12 37,680,152 37,682,994 RGD:11554173
G Tmem70 transmembrane protein 70 JBrowse link 5 2,019,852 2,037,038 RGD:11554173
G Tymp thymidine phosphorylase JBrowse link 7 130,342,481 130,347,845 RGD:1601000
Mitochondrial Encephalopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mt-nd3 mitochondrially encoded NADH dehydrogenase 3 JBrowse link MT 9,451 9,798 RGD:5507824
G Timm50 translocase of inner mitochondrial membrane 50 JBrowse link 1 85,470,810 85,480,813 RGD:8554872
MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Echs1 enoyl-CoA hydratase, short chain 1 JBrowse link 1 212,570,213 212,579,040 RGD:7240710
RGD:8554872
Mthfr Deficiency, Thermolabile Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:8554872
Mucolipidosis III Alpha Beta, Atypical term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta JBrowse link 7 28,956,363 29,023,232 RGD:8554872
Mucolipidosis III Gamma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma JBrowse link 10 14,593,050 14,597,995 RGD:8554872
RGD:7240710
G Unkl unk like zinc finger JBrowse link 10 14,547,126 14,593,090 RGD:8554872
mucosulfatidosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sumf1 sulfatase modifying factor 1 JBrowse link 4 140,139,017 140,220,482 RGD:7240710
RGD:8554872
RGD:11554173
G Sumf2 sulfatase modifying factor 2 JBrowse link 12 30,465,025 30,490,683 RGD:8554872
multiple mitochondrial dysfunctions syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bola3 bolA family member 3 JBrowse link 4 115,046,693 115,056,140 RGD:7240710
RGD:8554872
myopathy, lactic acidosis, and sideroblastic anemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnm1l dynamin 1-like JBrowse link 11 88,830,968 88,882,271 RGD:8554872
G Pus1 pseudouridine synthase 1 JBrowse link 12 51,936,721 51,945,930 RGD:8554872
RGD:11554173
G Yars2 tyrosyl-tRNA synthetase 2 JBrowse link 11 88,882,615 88,888,377 RGD:8554872
RGD:11554173
myopathy, lactic acidosis, and sideroblastic anemia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pus1 pseudouridine synthase 1 JBrowse link 12 51,936,721 51,945,930 RGD:7240710
RGD:8554872
myopathy, lactic acidosis, and sideroblastic anemia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Yars2 tyrosyl-tRNA synthetase 2 JBrowse link 11 88,882,615 88,888,377 RGD:7240710
RGD:8554872
myopathy, lactic acidosis, and sideroblastic anemia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mt-atp6 mitochondrially encoded ATP synthase 6 JBrowse link MT 7,919 8,599 RGD:8554872
N-Acetyl Glutamate Synthetase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nags N-acetylglutamate synthase JBrowse link 10 90,084,607 90,089,693 RGD:7240710
RGD:11554173
Neonatal-Onset Citrullinemia Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc25a13 solute carrier family 25 member 13 JBrowse link 4 31,134,165 31,757,006 RGD:7240710
RGD:8554872
Neuraminidase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Neu1 neuraminidase 1 JBrowse link 20 4,610,995 4,615,258 RGD:7240710
RGD:8554872
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:7240710
RGD:8554872
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mthfs methenyltetrahydrofolate synthetase JBrowse link 8 96,564,877 96,614,386 RGD:7240710
RGD:8554872
Niemann-Pick disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase JBrowse link 3 10,041,820 10,145,076 RGD:8693571
G Npc1 NPC intracellular cholesterol transporter 1 JBrowse link 18 3,616,878 3,662,656 RGD:13592920
G Npc2 NPC intracellular cholesterol transporter 2 JBrowse link 6 108,467,410 108,488,330 RGD:1601483
RGD:13592920
G Smpd1 sphingomyelin phosphodiesterase 1 JBrowse link 1 170,383,682 170,387,525 RGD:1601336
RGD:11554173
Niemann-Pick disease type A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 JBrowse link 4 140,247,297 140,580,749 RGD:6482797
G Smpd1 sphingomyelin phosphodiesterase 1 JBrowse link 1 170,383,682 170,387,525 RGD:7240710
RGD:8554872
Niemann-Pick disease type B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smpd1 sphingomyelin phosphodiesterase 1 JBrowse link 1 170,383,682 170,387,525 RGD:7240710
RGD:8554872
Niemann-Pick disease type C1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase JBrowse link 3 10,041,820 10,145,076 RGD:10047095
G Jak2 Janus kinase 2 JBrowse link 1 247,398,667 247,457,521 RGD:10403054
G Lipa lipase A, lysosomal acid type JBrowse link 1 252,816,536 252,959,348 RGD:11554173
G Npc1 NPC intracellular cholesterol transporter 1 JBrowse link 18 3,616,878 3,662,656 RGD:7240710
RGD:8554872
RGD:11554173
G Npc2 NPC intracellular cholesterol transporter 2 JBrowse link 6 108,467,410 108,488,330 RGD:8554872
G Rmc1 regulator of MON1-CCZ1 JBrowse link 18 3,597,210 3,617,160 RGD:8554872
G Stat3 signal transducer and activator of transcription 3 JBrowse link 10 88,790,401 88,842,263 RGD:10403054
Niemann-Pick disease type C2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Npc2 NPC intracellular cholesterol transporter 2 JBrowse link 6 108,467,410 108,488,330 RGD:7240710
RGD:8554872
Niemann-Pick Disease Type D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Npc1 NPC intracellular cholesterol transporter 1 JBrowse link 18 3,616,878 3,662,656 RGD:8554872
Niemann-Pick Disease, Intermediate, Protracted Neurovisceral term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smpd1 sphingomyelin phosphodiesterase 1 JBrowse link 1 170,383,682 170,387,525 RGD:8554872
oculocerebrorenal syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actrt1 actin-related protein T1 JBrowse link X 133,227,699 133,229,052 RGD:8554872
G Dcaf12l1 DDB1 and CUL4 associated factor 12-like 1 JBrowse link X 131,340,045 131,344,038 RGD:8554872
G Ocrl OCRL, inositol polyphosphate-5-phosphatase JBrowse link X 134,742,226 134,793,411 RGD:7240710
RGD:8554872
RGD:11554173
G Prr32 proline rich 32 JBrowse link X 131,617,765 131,619,762 RGD:8554872
G Smarca1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 JBrowse link X 134,634,651 134,719,503 RGD:8554872
ornithine carbamoyltransferase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Igfbp3 insulin-like growth factor binding protein 3 JBrowse link 14 87,457,647 87,465,374 RGD:12743607
G Otc ornithine carbamoyltransferase JBrowse link X 13,524,804 13,601,074 RGD:4144079
RGD:8554872
RGD:7240710
RGD:11554173
RGD:4144085
RGD:1600998
RGD:1600999
ornithine translocase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mrps31 mitochondrial ribosomal protein S31 JBrowse link 16 74,467,874 74,504,834 RGD:8554872
G Slc25a15 solute carrier family 25 member 15 JBrowse link 16 74,505,318 74,554,523 RGD:7240710
RGD:8554872
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
peroxisomal acyl-CoA oxidase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acox1 acyl-CoA oxidase 1 JBrowse link 10 104,724,534 104,748,003 RGD:7240710
RGD:8554872
G Ten1 TEN1 subunit of CST complex JBrowse link 10 105,073,077 105,095,094 RGD:8554872
Peroxisome Biogenesis Disorder 2B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pex5 peroxisomal biogenesis factor 5 JBrowse link 4 156,983,914 157,009,675 RGD:7240710
PEROXISOME BIOGENESIS DISORDER 9B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pex7 peroxisomal biogenesis factor 7 JBrowse link 1 15,311,768 15,374,702 RGD:7240710
RGD:8554872
phenylketonuria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cast calpastatin JBrowse link 2 1,452,111 1,561,669 RGD:5509818
G Cat catalase JBrowse link 3 93,379,872 93,412,058 RGD:9068874
G G6pd glucose-6-phosphate dehydrogenase JBrowse link X 156,274,800 156,293,935 RGD:10449120
G Gch1 GTP cyclohydrolase 1 JBrowse link 15 23,935,011 23,968,971 RGD:8554872
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B JBrowse link 4 169,541,620 170,000,216 RGD:13210766
G Hnf1a HNF1 homeobox A JBrowse link 12 47,407,811 47,433,342 RGD:13592920
G Nefh neurofilament heavy JBrowse link 14 85,181,572 85,191,557 RGD:9693700
G Pah phenylalanine hydroxylase JBrowse link 7 28,066,639 28,129,772 RGD:1601521
RGD:8554872
RGD:13207451
RGD:7240710
RGD:1358249
RGD:1601523
G Pcbd1 pterin-4 alpha-carbinolamine dehydratase 1 JBrowse link 20 30,689,690 30,696,465 RGD:8554872
G Pts 6-pyruvoyl-tetrahydropterin synthase JBrowse link 8 54,954,261 54,961,271 RGD:1601576
G Qdpr quinoid dihydropteridine reductase JBrowse link 14 70,164,682 70,178,284 RGD:1601577
RGD:8554872
RGD:11554173
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nrl neural retina leucine zipper JBrowse link 15 34,197,115 34,201,408 RGD:8554872
G Pck2 phosphoenolpyruvate carboxykinase 2 (mitochondrial) JBrowse link 15 34,216,735 34,224,357 RGD:8554872
RGD:7240710
pseudo-Hurler polydystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chpt1 choline phosphotransferase 1 JBrowse link 7 29,019,518 29,070,928 RGD:8554872
G Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta JBrowse link 7 28,956,363 29,023,232 RGD:7240710
RGD:8554872
G Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma JBrowse link 10 14,593,050 14,597,995 RGD:13592920
G Sgsh N-sulfoglucosamine sulfohydrolase JBrowse link 10 108,469,312 108,479,094 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
pyridoxamine 5'-phosphate oxidase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnpo pyridoxamine 5'-phosphate oxidase JBrowse link 10 84,874,926 84,881,190 RGD:7240710
RGD:8554872
pyruvate carboxylase deficiency disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pc pyruvate carboxylase JBrowse link 1 219,759,157 219,859,854 RGD:737741
RGD:8554872
RGD:7240710
pyruvate decarboxylase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apip APAF1 interacting protein JBrowse link 3 92,969,128 92,998,104 RGD:8554872
G Dlat dihydrolipoamide S-acetyltransferase JBrowse link 8 55,062,549 55,087,832 RGD:8554872
RGD:13592920
G Dld dihydrolipoamide dehydrogenase JBrowse link 6 50,597,677 50,618,694 RGD:8554872
G Lamb1 laminin subunit beta 1 JBrowse link 6 50,528,796 50,596,593 RGD:8554872
G Pdha1 pyruvate dehydrogenase E1 alpha 1 subunit JBrowse link X 37,329,779 37,343,410 RGD:731230
RGD:8554872
RGD:13207454
RGD:13207453
RGD:11554173
RGD:7240710
G Pdhb pyruvate dehydrogenase E1 beta subunit JBrowse link 15 18,540,826 18,546,855 RGD:1599115
RGD:8554872
RGD:11554173
G Pdhx pyruvate dehydrogenase complex, component X JBrowse link 3 92,910,300 92,933,725 RGD:8554872
RGD:13592920
G Pdp1 pyruvate dehyrogenase phosphatase catalytic subunit 1 JBrowse link 5 25,577,593 25,584,325 RGD:13592920
G Pih1d2 PIH1 domain containing 2 JBrowse link 8 55,050,284 55,060,289 RGD:8554872
G Slc16a2 solute carrier family 16 member 2 JBrowse link X 74,578,600 74,706,068 RGD:8554872
Pyruvate Dehydrogenase E1 Alpha Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdha1 pyruvate dehydrogenase E1 alpha 1 subunit JBrowse link X 37,329,779 37,343,410 RGD:8554872
G Pdhx pyruvate dehydrogenase complex, component X JBrowse link 3 92,910,300 92,933,725 RGD:8554872
Pyruvate Dehydrogenase E1-Beta Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdhb pyruvate dehydrogenase E1 beta subunit JBrowse link 15 18,540,826 18,546,855 RGD:7240710
RGD:8554872
Pyruvate Dehydrogenase E2 Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dlat dihydrolipoamide S-acetyltransferase JBrowse link 8 55,062,549 55,087,832 RGD:7240710
RGD:8554872
G Pih1d2 PIH1 domain containing 2 JBrowse link 8 55,050,284 55,060,289 RGD:8554872
Pyruvate Dehydrogenase E3-Binding Protein Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdhx pyruvate dehydrogenase complex, component X JBrowse link 3 92,910,300 92,933,725 RGD:8554872
RGD:7240710
Recurrent Metabolic Encephalomyopathic Crises with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tango2 transport and golgi organization 2 homolog JBrowse link 11 86,793,959 86,840,556 RGD:8554872
RGD:7240710
Refsum disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pex7 peroxisomal biogenesis factor 7 JBrowse link 1 15,311,768 15,374,702 RGD:8554872
RGD:11554173
G Phyh phytanoyl-CoA 2-hydroxylase JBrowse link 17 77,287,580 77,304,482 RGD:7240710
RGD:8554872
RGD:13831337
RGD:13831313
RGD:11554173
renal hypomagnesemia 5 with ocular involvement term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cldn19 claudin 19 JBrowse link 5 138,300,692 138,307,982 RGD:7240710
RGD:8554872
G Egf epidermal growth factor JBrowse link 2 68,820,616 68,895,537 RGD:8554872
Retinal Vasculopathy with Cerebral Leukodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atrip ATR interacting protein JBrowse link 8 117,797,954 117,811,989 RGD:8554872
G Trex1 three prime repair exonuclease 1 JBrowse link 8 117,796,127 117,797,427 RGD:7240710
RGD:8554872
Reye syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alb albumin JBrowse link 14 19,176,275 19,191,793 RGD:14694843
G Txnip thioredoxin interacting protein JBrowse link 2 198,683,168 198,686,971 RGD:13592920
Saccharopinuria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aass aminoadipate-semialdehyde synthase JBrowse link 4 50,152,005 50,208,935 RGD:7240710
RGD:8554872
Sandhoff disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccl3 C-C motif chemokine ligand 3 JBrowse link 10 70,869,516 70,871,066 RGD:7241825
G Gfm2 G elongation factor, mitochondrial 2 JBrowse link 2 27,949,195 27,984,045 RGD:8554872
G Hexb hexosaminidase subunit beta JBrowse link 2 27,983,925 28,003,260 RGD:1599422
RGD:8554872
RGD:7240710
Sandhoff Disease, Adult Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hexb hexosaminidase subunit beta JBrowse link 2 27,983,925 28,003,260 RGD:8554872
Sandhoff Disease, Infantile Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hexb hexosaminidase subunit beta JBrowse link 2 27,983,925 28,003,260 RGD:8554872
Sandhoff Disease, Juvenile Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hexb hexosaminidase subunit beta JBrowse link 2 27,983,925 28,003,260 RGD:8554872
sea-blue histiocytosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apoe apolipoprotein E JBrowse link 1 80,612,894 80,616,820 RGD:7240710
RGD:8554872
RGD:11554173
sialuria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase JBrowse link 5 59,511,738 59,553,421 RGD:7240710
RGD:8554872
G Slc17a5 solute carrier family 17 member 5 JBrowse link 8 85,891,245 85,926,466 RGD:1624224
RGD:8554872
RGD:7240710
sphingolipidosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Asah1 N-acylsphingosine amidohydrolase 1 JBrowse link 16 53,998,604 54,030,006 RGD:734977
G Sumf1 sulfatase modifying factor 1 JBrowse link 4 140,139,017 140,220,482 RGD:1599192
Tay-Sachs disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gm2a GM2 ganglioside activator JBrowse link 10 40,438,394 40,450,927 RGD:8554872
G Hexa hexosaminidase subunit alpha JBrowse link 8 64,325,435 64,350,775 RGD:7240710
RGD:8554872
RGD:13673908
RGD:11554173
Tay-Sachs Disease, Juvenile term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hexa hexosaminidase subunit alpha JBrowse link 8 64,325,435 64,350,775 RGD:8554872
Tay-Sachs Disease, Variant B1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hexa hexosaminidase subunit alpha JBrowse link 8 64,325,435 64,350,775 RGD:8554872
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tpk1 thiamin pyrophosphokinase 1 JBrowse link 4 72,792,252 73,174,179 RGD:7240710
RGD:8554872
tyrosinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fah fumarylacetoacetate hydrolase JBrowse link 1 146,713,663 146,736,339 RGD:737743
RGD:8554872
RGD:11554173
G Hpd 4-hydroxyphenylpyruvate dioxygenase JBrowse link 12 38,828,606 38,839,956 RGD:8554872
RGD:11554173
G Tat tyrosine aminotransferase JBrowse link 19 41,675,639 41,686,195 RGD:1600125
RGD:11554173
RGD:8554872
tyrosinemia type I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fah fumarylacetoacetate hydrolase JBrowse link 1 146,713,663 146,736,339 RGD:8554872
RGD:14401588
RGD:14401587
RGD:14398827
RGD:14398823
RGD:7240710
G Fahem10Dlli-/- fumarylacetoacetate hydrolase; CRISPR/Cas9 induced mutant 10, Dlli RGD:14398827
tyrosinemia type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tat tyrosine aminotransferase JBrowse link 19 41,675,639 41,686,195 RGD:7240710
RGD:8554872
tyrosinemia type III term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hpd 4-hydroxyphenylpyruvate dioxygenase JBrowse link 12 38,828,606 38,839,956 RGD:7240710
RGD:8554872
Wernicke encephalopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ptgs2 prostaglandin-endoperoxide synthase 2 JBrowse link 13 67,351,230 67,356,920 RGD:2300278
G Tkt transketolase JBrowse link 16 6,609,670 6,634,608 RGD:11554173
Wilson disease 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:11554173
G Ahcy adenosylhomocysteinase JBrowse link 3 150,587,833 150,603,057 RGD:11554173
G Alg11 ALG11, alpha-1,2-mannosyltransferase JBrowse link 16 74,854,007 74,866,096 RGD:8554872
G Anks1b ankyrin repeat and sterile alpha motif domain containing 1B JBrowse link 7 30,507,135 31,684,604 RGD:11554173
G Anxa5 annexin A5 JBrowse link 2 123,162,477 123,194,730 RGD:10053726
RGD:11554173
G Apoe apolipoprotein E JBrowse link 1 80,612,894 80,616,820 RGD:11554173
G Asmt acetylserotonin O-methyltransferase JBrowse link 12 18,521,383 18,527,036 RGD:11554173
G Atp7a ATPase copper transporting alpha JBrowse link X 77,076,085 77,193,644 RGD:11340212
G Atp7b ATPase copper transporting beta JBrowse link 16 74,865,516 74,944,935 RGD:2292672
RGD:8554872
RGD:11554173
RGD:7240710
RGD:734622
G Atp7bhts ATPase copper transporting beta; hepatitis RGD:631728
RGD:2292672
G Bhmt betaine-homocysteine S-methyltransferase JBrowse link 2 23,236,573 23,256,158 RGD:11554173
G Camk2a calcium/calmodulin-dependent protein kinase II alpha JBrowse link 18 56,193,978 56,295,869 RGD:11554173
G Cp ceruloplasmin JBrowse link 2 104,744,249 104,803,034 RGD:11554173
RGD:14401715
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 JBrowse link 7 70,333,150 70,340,006 RGD:2307322
G Hamp hepcidin antimicrobial peptide JBrowse link 1 89,368,021 89,369,960 RGD:11554173
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase JBrowse link 2 27,480,224 27,500,654 RGD:2292672
G Il10 interleukin 10 JBrowse link 13 47,738,933 47,743,392 RGD:11554173
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:11554173
G Lox lysyl oxidase JBrowse link 18 47,500,320 47,577,819 RGD:11554173
G Loxl2 lysyl oxidase-like 2 JBrowse link 15 51,276,022 51,365,238 RGD:11554173
G Ndufb7 NADH:ubiquinone oxidoreductase subunit B7 JBrowse link 19 24,701,067 24,705,405 RGD:11554173
G Ppp3ca protein phosphatase 3 catalytic subunit alpha JBrowse link 2 241,909,332 242,186,861 RGD:11554173
G Ppp3cb protein phosphatase 3 catalytic subunit beta JBrowse link 15 4,209,702 4,236,895 RGD:11554173
G Prnp prion protein JBrowse link 3 124,515,917 124,531,320 RGD:11554173
G Sdhaf2 succinate dehydrogenase complex assembly factor 2 JBrowse link 1 226,543,671 226,572,414 RGD:11554173
G Smpd1 sphingomyelin phosphodiesterase 1 JBrowse link 1 170,383,682 170,387,525 RGD:1601345
G Snca synuclein alpha JBrowse link 4 90,782,412 90,883,236 RGD:11554173
G Timp1 TIMP metallopeptidase inhibitor 1 JBrowse link X 1,364,771 1,369,451 RGD:11554173
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:11554173
Zellweger syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcd3 ATP binding cassette subfamily D member 3 JBrowse link 2 225,335,708 225,389,120 RGD:1598658
RGD:11554173
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 JBrowse link 9 81,968,285 81,998,213 RGD:13782195
G Gatad1 GATA zinc finger domain containing 1 JBrowse link 4 27,647,005 27,658,533 RGD:8554872
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 JBrowse link 18 44,810,462 44,897,677 RGD:11554173
G Il2 interleukin 2 JBrowse link 2 123,847,150 123,851,854 RGD:14747040
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 JBrowse link 3 22,998,900 23,020,441 RGD:11062374
G Pex1 peroxisomal biogenesis factor 1 JBrowse link 4 27,659,376 27,698,037 RGD:8554872
RGD:11554173
G Pex10 peroxisomal biogenesis factor 10 JBrowse link 5 172,469,978 172,475,144 RGD:11554173
RGD:8554872
G Pex11b peroxisomal biogenesis factor 11 beta JBrowse link 2 198,762,138 198,771,040 RGD:13592920
G Pex12 peroxisomal biogenesis factor 12 JBrowse link 10 70,512,785 70,516,494 RGD:11554173
RGD:8554872
G Pex13 peroxisomal biogenesis factor 13 JBrowse link 14 108,394,299 108,411,994 RGD:11554173
RGD:8554872
G Pex14 peroxisomal biogenesis factor 14 JBrowse link 5 165,782,895 165,918,445 RGD:11554173
RGD:8554872
G Pex16 peroxisomal biogenesis factor 16 JBrowse link 3 81,283,137 81,292,575 RGD:11554173
RGD:8554872
G Pex19 peroxisomal biogenesis factor 19 JBrowse link 13 90,514,324 90,530,825 RGD:11554173
RGD:8554872
G Pex2 peroxisomal biogenesis factor 2 JBrowse link 2 98,251,756 98,269,185 RGD:11554173
RGD:8554872
RGD:13207457
RGD:13207456
G Pex26 peroxisomal biogenesis factor 26 JBrowse link 4 153,747,715 153,760,446 RGD:11554173
RGD:8554872
G Pex3 peroxisomal biogenesis factor 3 JBrowse link 1 7,685,209 7,726,238 RGD:11554173
RGD:8554872
G Pex5 peroxisomal biogenesis factor 5 JBrowse link 4 156,983,914 157,009,675 RGD:8554872
G Pex6 peroxisomal biogenesis factor 6 JBrowse link 9 16,568,743 16,580,900 RGD:11554173
RGD:8554872
G Phyh phytanoyl-CoA 2-hydroxylase JBrowse link 17 77,287,580 77,304,482 RGD:13831312
RGD:13831337
G Plch2 phospholipase C, eta 2 JBrowse link 5 172,386,400 172,455,965 RGD:8554872
G Pus10 pseudouridine synthase 10 JBrowse link 14 108,411,941 108,479,696 RGD:8554872
G Rer1 retention in endoplasmic reticulum sorting receptor 1 JBrowse link 5 172,476,746 172,488,822 RGD:8554872
G Scp2 sterol carrier protein 2 JBrowse link 5 127,647,934 127,735,703 RGD:13782196
Zellweger Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcd3 ATP binding cassette subfamily D member 3 JBrowse link 2 225,335,708 225,389,120 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15626
    Nutritional and Metabolic Diseases 4376
      disease of metabolism 4376
        Metabolic Brain Diseases 472
          Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts 0
          Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 0
          Ethanolaminosis 0
          GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE 1
          INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY 1
          Marchiafava-Bignami Disease 0
          Metabolic Brain Diseases, Inborn + 406
          Recurrent Metabolic Encephalomyopathic Crises with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration 1
          Reye syndrome 2
          Schofer Beetz Bohl Syndrome 0
          Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) 1
          Wernicke encephalopathy 2
          central pontine myelinolysis 2
          glutaric acidemia I 3
          hepatic encephalopathy + 34
          kernicterus + 2
          mitochondrial encephalomyopathy + 46
          pyridoxamine 5'-phosphate oxidase deficiency 1
Path 2
Term Annotations click to browse term
  disease 15626
    disease of anatomical entity 14956
      nervous system disease 10224
        central nervous system disease 8102
          brain disease 7571
            Metabolic Brain Diseases 472
              Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts 0
              Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 0
              Ethanolaminosis 0
              GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE 1
              INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY 1
              Marchiafava-Bignami Disease 0
              Metabolic Brain Diseases, Inborn + 406
              Recurrent Metabolic Encephalomyopathic Crises with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration 1
              Reye syndrome 2
              Schofer Beetz Bohl Syndrome 0
              Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) 1
              Wernicke encephalopathy 2
              central pontine myelinolysis 2
              glutaric acidemia I 3
              hepatic encephalopathy + 34
              kernicterus + 2
              mitochondrial encephalomyopathy + 46
              pyridoxamine 5'-phosphate oxidase deficiency 1
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.