ONTOLOGY REPORT - ANNOTATIONS


Term:carbohydrate metabolic disorder
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Accession:DOID:2978 term browser browse the term
Definition:Dysfunctions of CARBOHYDRATE METABOLISM resulting from inborn genetic mutations that are inherited or acquired in utero.
Synonyms:exact_synonym: Carbohydrate Metabolism, Inborn Error;   Carbohydrate Metabolism, Inborn Errors;   disorder of carbohydrate transport and metabolism;   inborn carbohydrate metabolism disorder;   inborn errors of carbohydrate metabolism
 primary_id: MESH:D002239
 alt_id: RDO:0001064
 xref: OMIM:PS606777
For additional species annotation, visit the Alliance of Genome Resources.


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carbohydrate metabolic disorder term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acat1 acetyl-CoA acetyltransferase 1 JBrowse link 8 58,166,990 58,195,884 RGD:2326222
G Khk ketohexokinase JBrowse link 6 26,810,577 26,821,013 RGD:13673909
G Mpi mannose phosphate isomerase JBrowse link 8 62,324,176 62,332,080 RGD:1600452
G Oxct1 3-oxoacid CoA transferase 1 JBrowse link 2 53,859,738 54,007,733 RGD:2326201
G Prkag3 protein kinase AMP-activated non-catalytic subunit gamma 3 JBrowse link 9 81,999,368 82,008,620 RGD:11554173
G Taldo1 transaldolase 1 JBrowse link 1 214,375,555 214,385,886 RGD:1599293
G Tpi1 triosephosphate isomerase 1 JBrowse link 4 157,328,375 157,331,905 RGD:1599584
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
alpha-mannosidosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Man2b1 mannosidase, alpha, class 2B, member 1 JBrowse link 19 26,196,797 26,216,981 RGD:7240710
RGD:8554872
beta-mannosidosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Manba mannosidase beta JBrowse link 2 240,668,213 240,760,264 RGD:8554872
RGD:7240710
biotinidase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Btd biotinidase JBrowse link 16 7,758,192 7,791,301 RGD:7240710
RGD:8554872
G Hacl1 2-hydroxyacyl-CoA lyase 1 JBrowse link 16 7,720,047 7,758,119 RGD:8554872
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
childhood onset GLUT1 deficiency syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc2a1 solute carrier family 2 member 1 JBrowse link 5 138,154,677 138,182,897 RGD:7240710
RGD:8554872
congenital disorder of glycosylation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alg1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase JBrowse link 10 10,539,930 10,550,178 RGD:8554872
G Alg11 ALG11, alpha-1,2-mannosyltransferase JBrowse link 16 74,854,007 74,866,096 RGD:8554872
G Alg12 ALG12, alpha-1,6-mannosyltransferase JBrowse link 7 129,798,663 129,812,677 RGD:8554872
G Alg2 ALG2, alpha-1,3/1,6-mannosyltransferase JBrowse link 5 63,187,466 63,192,025 RGD:8554872
G Alg3 ALG3, alpha-1,3- mannosyltransferase JBrowse link 11 83,985,484 83,991,706 RGD:8554872
G Alg6 ALG6, alpha-1,3-glucosyltransferase JBrowse link 5 118,415,680 118,470,634 RGD:8554872
G Alg8 ALG8, alpha-1,3-glucosyltransferase JBrowse link 1 162,342,061 162,362,139 RGD:8554872
G Alg9 ALG9, alpha-1,2-mannosyltransferase JBrowse link 8 55,202,140 55,265,478 RGD:8554872
G Atp7b ATPase copper transporting beta JBrowse link 16 74,865,516 74,944,935 RGD:8554872
G B4galt1 beta-1,4-galactosyltransferase 1 JBrowse link 5 57,121,768 57,168,610 RGD:1599432
RGD:8554872
G Cog1 component of oligomeric golgi complex 1 JBrowse link 10 102,167,594 102,180,569 RGD:8554872
G Cog4 component of oligomeric golgi complex 4 JBrowse link 19 43,358,057 43,391,828 RGD:8554872
G Cog5 component of oligomeric golgi complex 5 JBrowse link 6 50,953,868 51,230,860 RGD:8554872
G Cog6 component of oligomeric golgi complex 6 JBrowse link 2 142,197,566 142,235,054 RGD:8554872
G Cog7 component of oligomeric golgi complex 7 JBrowse link 1 191,889,332 191,948,977 RGD:8554872
G Cog8 component of oligomeric golgi complex 8 JBrowse link 19 39,246,656 39,257,406 RGD:8554872
G Ddost dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit JBrowse link 5 156,668,924 156,676,036 RGD:8554872
G Dnaaf2 dynein, axonemal, assembly factor 2 JBrowse link 6 91,481,439 91,490,189 RGD:8554872
G Dolk dolichol kinase JBrowse link 3 8,850,154 8,852,192 RGD:8554872
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 JBrowse link 8 48,657,779 48,664,531 RGD:8554872
G Dpm1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic JBrowse link 3 164,966,637 164,986,180 RGD:8554872
G Dpm2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory JBrowse link 3 11,587,941 11,590,528 RGD:8554872
G Dpm3 dolichyl-phosphate mannosyltransferase subunit 3 JBrowse link 2 188,583,664 188,584,179 RGD:8554872
G Dus4l dihydrouridine synthase 4-like JBrowse link 6 50,925,987 50,943,546 RGD:8554872
G Fam104a family with sequence similarity 104, member A JBrowse link 10 102,179,478 102,200,488 RGD:8554872
G Hbp1 HMG-box transcription factor 1 JBrowse link 6 51,231,479 51,257,699 RGD:8554872
G Hmbs hydroxymethylbilane synthase JBrowse link 8 48,667,278 48,674,673 RGD:8554872
G Magt1 magnesium transporter 1 JBrowse link X 77,023,423 77,061,603 RGD:8554872
G Mgat2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase JBrowse link 6 91,476,698 91,479,187 RGD:8554872
G Mogs mannosyl-oligosaccharide glucosidase JBrowse link 4 113,948,328 113,951,731 RGD:8554872
G Mpdu1 mannose-P-dolichol utilization defect 1 JBrowse link 10 56,261,636 56,267,213 RGD:8554872
G Mpi mannose phosphate isomerase JBrowse link 8 62,324,176 62,332,080 RGD:8554872
G Nup188 nucleoporin 188 JBrowse link 3 8,852,271 8,908,608 RGD:8554872
G Pdf peptide deformylase (mitochondrial) JBrowse link 19 39,244,242 39,246,636 RGD:8554872
G Pgm1 phosphoglucomutase 1 JBrowse link 5 118,743,632 118,803,055 RGD:8554872
G Pink1 PTEN induced putative kinase 1 JBrowse link 5 156,677,146 156,689,258 RGD:8554872
G Pmm2 phosphomannomutase 2 JBrowse link 10 7,056,258 7,077,443 RGD:1599134
RGD:8554872
RGD:1599132
G Rars2 arginyl-tRNA synthetase 2, mitochondrial JBrowse link 5 50,075,510 50,127,625 RGD:8554872
G Rft1 RFT1 homolog JBrowse link 16 6,712,387 6,746,711 RGD:8554872
G Rpn2 ribophorin II JBrowse link 3 153,398,373 153,445,633 RGD:8554872
G Slc35a1 solute carrier family 35 member A1 JBrowse link 5 50,119,880 50,142,689 RGD:8554872
G Slc35c1 solute carrier family 35 member C1 JBrowse link 3 81,361,080 81,369,010 RGD:8554872
G Srd5a3 steroid 5 alpha-reductase 3 JBrowse link 14 34,554,769 34,570,423 RGD:8554872
G Tmem165 transmembrane protein 165 JBrowse link 14 34,503,037 34,528,262 RGD:8554872
G Tusc3 tumor suppressor candidate 3 JBrowse link 16 56,248,125 56,396,491 RGD:8554872
Congenital Disorder of Glycosylation Type 1A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:12910858
G Igf2 insulin-like growth factor 2 JBrowse link 1 215,828,102 215,839,081 RGD:12910858
G Igfals insulin-like growth factor binding protein, acid labile subunit JBrowse link 10 14,240,308 14,243,554 RGD:12910858
G Igfbp3 insulin-like growth factor binding protein 3 JBrowse link 14 87,457,647 87,465,374 RGD:12910858
G Pmm2 phosphomannomutase 2 JBrowse link 10 7,056,258 7,077,443 RGD:7240710
RGD:8554872
RGD:11554173
Congenital Disorder of Glycosylation Type 1B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mpi mannose phosphate isomerase JBrowse link 8 62,324,176 62,332,080 RGD:7240710
RGD:8554872
Congenital Disorder of Glycosylation Type 1C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alg6 ALG6, alpha-1,3-glucosyltransferase JBrowse link 5 118,415,680 118,470,634 RGD:7240710
RGD:8554872
Congenital Disorder of Glycosylation Type 1D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alg3 ALG3, alpha-1,3- mannosyltransferase JBrowse link 11 83,985,484 83,991,706 RGD:7240710
RGD:8554872
Congenital Disorder of Glycosylation Type 1E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dpm1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic JBrowse link 3 164,966,637 164,986,180 RGD:7240710
RGD:8554872
Congenital Disorder of Glycosylation Type 1F term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mpdu1 mannose-P-dolichol utilization defect 1 JBrowse link 10 56,261,636 56,267,213 RGD:7240710
RGD:8554872
Congenital Disorder of Glycosylation Type 1G term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alg12 ALG12, alpha-1,6-mannosyltransferase JBrowse link 7 129,798,663 129,812,677 RGD:7240710
RGD:8554872
Congenital Disorder of Glycosylation Type 1H term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alg8 ALG8, alpha-1,3-glucosyltransferase JBrowse link 1 162,342,061 162,362,139 RGD:7240710
RGD:8554872
Congenital Disorder of Glycosylation Type 1I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alg2 ALG2, alpha-1,3/1,6-mannosyltransferase JBrowse link 5 63,187,466 63,192,025 RGD:7240710
RGD:8554872
G Brca2 BRCA2, DNA repair associated JBrowse link 12 503,660 544,754 RGD:8554872
G Ccdc115 coiled-coil domain containing 115 JBrowse link 9 37,774,876 37,778,839 RGD:8554872
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:8554872
G Nkx2-5 NK2 homeobox 5 JBrowse link 10 16,635,989 16,638,758 RGD:8554872
G Tmem199 transmembrane protein 199 JBrowse link 10 65,775,721 65,780,293 RGD:8554872
Congenital Disorder of Glycosylation Type 1J term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 JBrowse link 8 48,657,779 48,664,531 RGD:7240710
RGD:8554872
G Hmbs hydroxymethylbilane synthase JBrowse link 8 48,667,278 48,674,673 RGD:8554872
Congenital Disorder of Glycosylation Type 1K term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alg1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase JBrowse link 10 10,539,930 10,550,178 RGD:7240710
RGD:8554872
G Eef2kmt eukaryotic elongation factor 2 lysine methyltransferase JBrowse link 10 10,530,302 10,540,428 RGD:8554872
Congenital Disorder of Glycosylation Type 1L term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alg9 ALG9, alpha-1,2-mannosyltransferase JBrowse link 8 55,202,140 55,265,478 RGD:7240710
RGD:8554872
G Atp6v0a2 ATPase H+ transporting V0 subunit a2 JBrowse link 12 37,368,321 37,398,233 RGD:8554872
Congenital Disorder of Glycosylation Type 1M term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dolk dolichol kinase JBrowse link 3 8,850,154 8,852,192 RGD:8554872
RGD:7240710
Congenital Disorder of Glycosylation Type 1N term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rft1 RFT1 homolog JBrowse link 16 6,712,387 6,746,711 RGD:7240710
RGD:8554872
Congenital Disorder of Glycosylation Type 1O term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dpm3 dolichyl-phosphate mannosyltransferase subunit 3 JBrowse link 2 188,583,664 188,584,179 RGD:8554872
RGD:7240710
Congenital Disorder of Glycosylation Type 1P term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alg11 ALG11, alpha-1,2-mannosyltransferase JBrowse link 16 74,854,007 74,866,096 RGD:7240710
RGD:8554872
G Atp7b ATPase copper transporting beta JBrowse link 16 74,865,516 74,944,935 RGD:8554872
Congenital Disorder of Glycosylation Type 1Q term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Srd5a3 steroid 5 alpha-reductase 3 JBrowse link 14 34,554,769 34,570,423 RGD:7240710
RGD:8554872
Congenital Disorder of Glycosylation Type 1R term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ddost dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit JBrowse link 5 156,668,924 156,676,036 RGD:7240710
RGD:8554872
Congenital Disorder of Glycosylation Type 1U term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dpm2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory JBrowse link 3 11,587,941 11,590,528 RGD:7240710
RGD:8554872
Congenital Disorder of Glycosylation Type 1W term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Stt3a STT3 oligosaccharyltransferase complex catalytic subunit A JBrowse link 8 39,204,218 39,243,751 RGD:7240710
RGD:8554872
Congenital Disorder of Glycosylation Type 1X term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Stt3b STT3 oligosaccharyltransferase complex catalytic subunit B JBrowse link 8 123,303,910 123,370,729 RGD:7240710
RGD:8554872
Congenital Disorder of Glycosylation Type 1Y term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ssr4 signal sequence receptor subunit 4 JBrowse link X 156,995,763 156,999,702 RGD:7240710
RGD:8554872
congenital disorder of glycosylation type I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pmm2 phosphomannomutase 2 JBrowse link 10 7,056,258 7,077,443 RGD:13592920
congenital disorder of glycosylation type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mgat2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase JBrowse link 6 91,476,698 91,479,187 RGD:13592920
congenital disorder of glycosylation type IIa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnaaf2 dynein, axonemal, assembly factor 2 JBrowse link 6 91,481,439 91,490,189 RGD:8554872
G Mgat2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase JBrowse link 6 91,476,698 91,479,187 RGD:7240710
RGD:8554872
congenital disorder of glycosylation type IIb term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mogs mannosyl-oligosaccharide glucosidase JBrowse link 4 113,948,328 113,951,731 RGD:7240710
RGD:8554872
congenital disorder of glycosylation type IIc term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc35c1 solute carrier family 35 member C1 JBrowse link 3 81,361,080 81,369,010 RGD:1599002
RGD:8554872
RGD:7240710
congenital disorder of glycosylation type IId term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B4galt1 beta-1,4-galactosyltransferase 1 JBrowse link 5 57,121,768 57,168,610 RGD:7240710
RGD:8554872
congenital disorder of glycosylation type IIe term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cog7 component of oligomeric golgi complex 7 JBrowse link 1 191,889,332 191,948,977 RGD:7240710
RGD:8554872
congenital disorder of glycosylation type IIf term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc35a1 solute carrier family 35 member A1 JBrowse link 5 50,119,880 50,142,689 RGD:7240710
RGD:8554872
congenital disorder of glycosylation type IIg term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cog1 component of oligomeric golgi complex 1 JBrowse link 10 102,167,594 102,180,569 RGD:7240710
RGD:8554872
G Fam104a family with sequence similarity 104, member A JBrowse link 10 102,179,478 102,200,488 RGD:8554872
congenital disorder of glycosylation type IIh term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cog8 component of oligomeric golgi complex 8 JBrowse link 19 39,246,656 39,257,406 RGD:7240710
RGD:8554872
G Nip7 nucleolar pre-rRNA processing protein NIP7 JBrowse link 19 39,257,586 39,259,728 RGD:8554872
congenital disorder of glycosylation type IIi term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cog5 component of oligomeric golgi complex 5 JBrowse link 6 50,953,868 51,230,860 RGD:7240710
RGD:8554872
congenital disorder of glycosylation type IIj term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cog4 component of oligomeric golgi complex 4 JBrowse link 19 43,358,057 43,391,828 RGD:7240710
RGD:8554872
congenital disorder of glycosylation type IIk term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem165 transmembrane protein 165 JBrowse link 14 34,503,037 34,528,262 RGD:7240710
RGD:8554872
congenital disorder of glycosylation type IIl term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cog6 component of oligomeric golgi complex 6 JBrowse link 2 142,197,566 142,235,054 RGD:7240710
RGD:8554872
congenital disorder of glycosylation type IIm term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc120 coiled-coil domain containing 120 JBrowse link X 15,610,230 15,616,727 RGD:8554872
G Eras ES cell expressed Ras JBrowse link X 15,318,215 15,322,601 RGD:8554872
G Gata1 GATA binding protein 1 JBrowse link X 15,273,937 15,281,759 RGD:8554872
G Glod5 glyoxalase domain containing 5 JBrowse link X 15,225,645 15,240,458 RGD:8554872
G Gripap1 GRIP1 associated protein 1 JBrowse link X 15,523,929 15,553,702 RGD:8554872
G Hdac6 histone deacetylase 6 JBrowse link X 15,295,372 15,316,673 RGD:8554872
G Kcnd1 potassium voltage-gated channel subfamily D member 1 JBrowse link X 15,506,724 15,520,712 RGD:8554872
G Otud5 OTU deubiquitinase 5 JBrowse link X 15,471,212 15,504,372 RGD:8554872
G Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor JBrowse link X 15,324,263 15,327,705 RGD:8554872
G Pim2 Pim-2 proto-oncogene, serine/threonine kinase JBrowse link X 15,462,621 15,467,890 RGD:8554872
G Pqbp1 polyglutamine binding protein 1 JBrowse link X 15,448,570 15,453,130 RGD:8554872
G Praf2 PRA1 domain family, member 2 JBrowse link X 15,618,324 15,620,992 RGD:8554872
G Slc35a2 solute carrier family 35 member A2 JBrowse link X 15,453,184 15,461,990 RGD:7240710
RGD:8554872
G Suv39h1 suppressor of variegation 3-9 homolog 1 JBrowse link X 146,532,002 146,533,538 RGD:8554872
G Tfe3 transcription factor binding to IGHM enhancer 3 JBrowse link X 15,574,579 15,587,826 RGD:8554872
G Timm17b translocase of inner mitochondrial membrane 17b JBrowse link X 15,441,369 15,448,452 RGD:8554872
G Was WASP actin nucleation promoting factor JBrowse link X 15,155,246 15,164,099 RGD:8554872
G Wdr45 WD repeat domain 45 JBrowse link X 15,621,249 15,627,159 RGD:8554872
congenital disorder of glycosylation type IIn term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc39a8 solute carrier family 39 member 8 JBrowse link 2 241,028,851 241,092,584 RGD:7240710
RGD:8554872
congenital disorder of glycosylation type IIo term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc115 coiled-coil domain containing 115 JBrowse link 9 37,774,876 37,778,839 RGD:8554872
RGD:7240710
congenital disorder of glycosylation type IIp term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem199 transmembrane protein 199 JBrowse link 10 65,775,721 65,780,293 RGD:8554872
RGD:7240710
congenital disorder of glycosylation type IIq term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cog2 component of oligomeric golgi complex 2 JBrowse link 19 57,286,955 57,322,853 RGD:8554872
RGD:7240710
Congenital Disorder of Glycosylation with Defective Fucosylation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fut8 fucosyltransferase 8 JBrowse link 6 100,305,957 100,537,208 RGD:8554872
Congenital Disorder of Glycosylation with Defective Fucosylation 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fut8 fucosyltransferase 8 JBrowse link 6 100,305,957 100,537,208 RGD:7240710
RGD:8554872
Congenital Disorder of Glycosylation with Defective Fucosylation 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fcsk fucose kinase JBrowse link 19 43,338,146 43,357,826 RGD:7240710
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1AA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit JBrowse link 20 33,557,052 33,584,011 RGD:8554872
RGD:7240710
Congenital Lactase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lct lactase JBrowse link 13 44,998,414 45,040,593 RGD:7240710
RGD:8554872
D-Glycericacidemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Glyctk glycerate kinase JBrowse link 8 114,846,210 114,853,374 RGD:7240710
RGD:8554872
Danon disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akap14 A-kinase anchoring protein 14 JBrowse link X 123,773,430 123,788,898 RGD:8554872
G Atp1b4 ATPase Na+/K+ transporting family member beta 4 JBrowse link X 124,631,544 124,652,520 RGD:8554872
G Lamp2 lysosomal-associated membrane protein 2 JBrowse link X 124,722,628 124,766,079 RGD:7240710
RGD:8554872
RGD:13703117
G Lamp2em1 lysosomal-associated membrane protein 2; TALEN induced mutant1 RGD:13703117
G LOC100364002 reproductive homeobox 9-like JBrowse link X 123,999,683 124,002,081 RGD:8554872
G Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 JBrowse link X 123,803,109 123,806,760 RGD:8554872
G Nkap NFKB activating protein JBrowse link X 123,751,196 123,770,595 RGD:8554872
G Rhox10 reproductive homeobox 10 JBrowse link X 124,207,017 124,211,455 RGD:8554872
G Rnf113a1 ring finger protein 113A1 JBrowse link X 123,806,922 123,808,049 RGD:8554872
G Tmem255a transmembrane protein 255A JBrowse link X 124,400,686 124,465,156 RGD:8554872
G Upf3b UPF3B, regulator of nonsense mediated mRNA decay JBrowse link X 123,713,327 123,731,431 RGD:8554872
G Zbtb33 zinc finger and BTB domain containing 33 JBrowse link X 124,319,299 124,326,506 RGD:8554872
familial hyperinsulinemic hypoglycemia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcc8 ATP binding cassette subfamily C member 8 JBrowse link 1 102,110,708 102,191,287 RGD:7240710
familial hyperinsulinemic hypoglycemia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcc8 ATP binding cassette subfamily C member 8 JBrowse link 1 102,110,708 102,191,287 RGD:8554872
G Kcnj11 potassium voltage-gated channel subfamily J member 11 JBrowse link 1 102,103,093 102,107,134 RGD:8554872
RGD:7240710
familial hyperinsulinemic hypoglycemia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gck glucokinase JBrowse link 14 86,149,146 86,191,589 RGD:7240710
RGD:8554872
familial hyperinsulinemic hypoglycemia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hadh hydroxyacyl-CoA dehydrogenase JBrowse link 2 236,353,445 236,395,067 RGD:8554872
RGD:7240710
familial hyperinsulinemic hypoglycemia 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Insr insulin receptor JBrowse link 12 1,682,527 1,816,414 RGD:7240710
RGD:8554872
familial hyperinsulinemic hypoglycemia 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Glud1 glutamate dehydrogenase 1 JBrowse link 16 10,661,486 10,695,557 RGD:7240710
RGD:8554872
G Shld2 shieldin complex subunit 2 JBrowse link 16 10,570,307 10,661,528 RGD:8554872
familial hyperinsulinemic hypoglycemia 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc16a1 solute carrier family 16 member 1 JBrowse link 2 207,108,552 207,129,352 RGD:7240710
RGD:8554872
favism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cask calcium/calmodulin dependent serine protein kinase JBrowse link X 9,815,652 10,156,155 RGD:11554173
G G6pd glucose-6-phosphate dehydrogenase JBrowse link X 156,274,800 156,293,935 RGD:11554173
RGD:8554872
RGD:7240710
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma JBrowse link X 156,254,187 156,280,046 RGD:8554872
fructose-1,6-bisphosphatase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbp1 fructose-bisphosphatase 1 JBrowse link 17 396,175 417,480 RGD:1601165
RGD:8554872
RGD:11554173
RGD:7240710
Fructosuria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cgref1 cell growth regulator with EF hand domain 1 JBrowse link 6 26,797,126 26,809,132 RGD:8554872
G Khk ketohexokinase JBrowse link 6 26,810,577 26,821,013 RGD:7240710
RGD:13782360
RGD:8554872
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
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:7240710
RGD:8554872
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:7240710
RGD:8554872
RGD:11554173
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase JBrowse link 5 154,294,841 154,308,582 RGD:8554872
G Il11ra1 interleukin 11 receptor subunit alpha 1 JBrowse link 5 58,149,150 58,159,072 RGD:8554872
Gillessen-Kaesbach-Nishimura Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alg9 ALG9, alpha-1,2-mannosyltransferase JBrowse link 8 55,202,140 55,265,478 RGD:8554872
RGD:7240710
Glucose-Galactose Malabsorption term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc5a1 solute carrier family 5 member 1 JBrowse link 14 82,910,448 82,975,303 RGD:7240710
RGD:8554872
glucosephosphate dehydrogenase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G G6pd glucose-6-phosphate dehydrogenase JBrowse link X 156,274,800 156,293,935 RGD:8554872
RGD:11554173
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:11049178
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma JBrowse link X 156,254,187 156,280,046 RGD:8554872
G Il10 interleukin 10 JBrowse link 13 47,738,933 47,743,392 RGD:11049178
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:11049178
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) JBrowse link 10 90,296,144 90,312,401 RGD:10450516
GLUT1 Deficiency Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc2a1 solute carrier family 2 member 1 JBrowse link 5 138,154,677 138,182,897 RGD:1624245
RGD:8554872
RGD:12879476
RGD:12879473
RGD:12879464
RGD:11554173
RGD:7240710
glycerol kinase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gk glycerol kinase JBrowse link X 54,227,291 54,303,897 RGD:1601343
RGD:8554872
RGD:7240710
glycogen storage disease 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
G Gyg1 glycogenin 1 JBrowse link 2 104,916,734 104,958,219 RGD:11554173
G Gys2 glycogen synthase 2 JBrowse link 4 176,638,632 176,679,805 RGD:1600764
RGD:8554872
G Phka1 phosphorylase kinase regulatory subunit alpha 1 JBrowse link X 72,377,020 72,515,385 RGD:1599893
G Phka2 phosphorylase kinase regulatory subunit alpha 2 JBrowse link X 35,970,650 36,926,616 RGD:1601388
RGD:11554173
G Phkg2 phosphorylase kinase catalytic subunit gamma 2 JBrowse link 1 199,019,298 199,032,053 RGD:737724
G Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 JBrowse link 4 6,559,153 6,799,888 RGD:1580717
G Pygl glycogen phosphorylase L JBrowse link 6 92,597,759 92,643,734 RGD:1599374
G Pygm glycogen phosphorylase, muscle associated JBrowse link 1 221,756,325 221,771,142 RGD:8554872
G Slc2a2 solute carrier family 2 member 2 JBrowse link 2 114,413,427 114,445,418 RGD:1624253
Glycogen Storage Disease 0, Liver term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gys2 glycogen synthase 2 JBrowse link 4 176,638,632 176,679,805 RGD:7240710
RGD:8554872
Glycogen Storage Disease 0, Muscle term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ftl1 ferritin light chain 1 JBrowse link 1 101,448,190 101,450,034 RGD:8554872
G Gys1 glycogen synthase 1 JBrowse link 1 101,427,195 101,447,092 RGD:7240710
RGD:8554872
glycogen storage disease I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G G6pc glucose-6-phosphatase, catalytic subunit JBrowse link 10 89,286,009 89,296,213 RGD:11554173
RGD:8554872
G Slc37a4 solute carrier family 37 member 4 JBrowse link 8 48,716,914 48,723,024 RGD:61591
RGD:8554872
RGD:13592920
Glycogen Storage Disease IA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G G6pc glucose-6-phosphatase, catalytic subunit JBrowse link 10 89,286,009 89,296,213 RGD:7240710
RGD:8554872
Glycogen Storage Disease IB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G G6pc glucose-6-phosphatase, catalytic subunit JBrowse link 10 89,286,009 89,296,213 RGD:8554872
G Slc37a4 solute carrier family 37 member 4 JBrowse link 8 48,716,914 48,723,024 RGD:1599000
RGD:8554872
RGD:7240710
Glycogen Storage Disease IC term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc37a4 solute carrier family 37 member 4 JBrowse link 8 48,716,914 48,723,024 RGD:7240710
RGD:8554872
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
glycogen storage disease III term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agl amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase JBrowse link 2 219,788,234 219,843,189 RGD:1601129
RGD:8554872
RGD:11554173
RGD:7240710
RGD:1331525
G Bnc2 basonuclin 2 JBrowse link 5 102,407,508 102,807,389 RGD:8554872
G Cep85l centrosomal protein 85-like JBrowse link 20 34,574,043 34,743,142 RGD:8554872
G Pln phospholamban JBrowse link 20 34,633,157 34,642,904 RGD:8554872
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:8554872
G Sox9 SRY box 9 JBrowse link 10 101,288,528 101,294,030 RGD:8554872
Glycogen Storage Disease IIIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agl amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase JBrowse link 2 219,788,234 219,843,189 RGD:8554872
Glycogen Storage Disease IIIB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agl amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase JBrowse link 2 219,788,234 219,843,189 RGD:1566516
RGD:8554872
Glycogen Storage Disease IIIC term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agl amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase JBrowse link 2 219,788,234 219,843,189 RGD:8554872
glycogen storage disease IV term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gbe1 1,4-alpha-glucan branching enzyme 1 JBrowse link 11 7,210,169 7,485,895 RGD:1601279
RGD:8554872
RGD:7240710
G Rbck1 RANBP2-type and C3HC4-type zinc finger containing 1 JBrowse link 3 147,793,014 147,809,941 RGD:8554872
glycogen storage disease IXa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Phka2 phosphorylase kinase regulatory subunit alpha 2 JBrowse link X 35,970,650 36,926,616 RGD:7240710
RGD:8554872
glycogen storage disease IXb term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Phkb phosphorylase kinase regulatory subunit beta JBrowse link 19 22,031,684 22,281,788 RGD:7240710
RGD:8554872
glycogen storage disease IXc term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Phkg2 phosphorylase kinase catalytic subunit gamma 2 JBrowse link 1 199,019,298 199,032,053 RGD:8554872
RGD:7240710
glycogen storage disease IXd term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Phka1 phosphorylase kinase regulatory subunit alpha 1 JBrowse link X 72,377,020 72,515,385 RGD:7240710
RGD:8554872
glycogen storage disease V 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 Hif1a hypoxia inducible factor 1 subunit alpha JBrowse link 6 96,810,868 96,856,303 RGD:13592920
G Pygm glycogen phosphorylase, muscle associated JBrowse link 1 221,756,325 221,771,142 RGD:1599985
RGD:8554872
RGD:11554173
RGD:7240710
glycogen storage disease VI term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pygl glycogen phosphorylase L JBrowse link 6 92,597,759 92,643,734 RGD:7240710
RGD:8554872
RGD:11554173
glycogen storage disease VII term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hif1a hypoxia inducible factor 1 subunit alpha JBrowse link 6 96,810,868 96,856,303 RGD:13592920
G Pfkm phosphofructokinase, muscle JBrowse link 7 139,702,066 139,722,132 RGD:1599108
RGD:8554872
RGD:11554173
RGD:7240710
Glycogen Storage Disease XII term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldoa aldolase, fructose-bisphosphate A JBrowse link 1 198,228,387 198,233,988 RGD:7240710
RGD:8554872
Glycogen Storage Disease XIII term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eno3 enolase 3 JBrowse link 10 57,278,271 57,283,661 RGD:7240710
RGD:8554872
Glycogen Storage Disease XIV term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pgm1 phosphoglucomutase 1 JBrowse link 5 118,743,632 118,803,055 RGD:8554872
RGD:7240710
glycogen storage disease XV term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gyg1 glycogenin 1 JBrowse link 2 104,916,734 104,958,219 RGD:7240710
RGD:8554872
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
GSD IV, Classic Hepatic term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gbe1 1,4-alpha-glucan branching enzyme 1 JBrowse link 11 7,210,169 7,485,895 RGD:8554872
GSD IV, combined hepatic and myopathic term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gbe1 1,4-alpha-glucan branching enzyme 1 JBrowse link 11 7,210,169 7,485,895 RGD:8554872
GSD IV, Neuromuscular Form, Childhood term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gbe1 1,4-alpha-glucan branching enzyme 1 JBrowse link 11 7,210,169 7,485,895 RGD:8554872
GSD IV, Neuromuscular Form, Congenital term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gbe1 1,4-alpha-glucan branching enzyme 1 JBrowse link 11 7,210,169 7,485,895 RGD:8554872
hereditary fructose intolerance syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldoa aldolase, fructose-bisphosphate A JBrowse link 1 198,228,387 198,233,988 RGD:13673876
G Aldob aldolase, fructose-bisphosphate B JBrowse link 5 64,805,772 64,818,813 RGD:1599063
RGD:8554872
RGD:11554173
RGD:7240710
RGD:1300369
G Khk ketohexokinase JBrowse link 6 26,810,577 26,821,013 RGD:13673910
holocarboxylase synthetase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hlcs holocarboxylase synthetase JBrowse link 11 34,357,372 34,537,798 RGD:1302549
RGD:8554872
RGD:7240710
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
hyperinsulinemic hypoglycemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcc8 ATP binding cassette subfamily C member 8 JBrowse link 1 102,110,708 102,191,287 RGD:13592920
RGD:8554872
G Gck glucokinase JBrowse link 14 86,149,146 86,191,589 RGD:13592920
G Kcnj11 potassium voltage-gated channel subfamily J member 11 JBrowse link 1 102,103,093 102,107,134 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
Lactate Dehydrogenase Deficiency Type A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ldha lactate dehydrogenase A JBrowse link 1 102,900,288 102,909,713 RGD:7240710
RGD:8554872
lactose intolerance term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lct lactase JBrowse link 13 44,998,414 45,040,593 RGD:8554872
G Mcm6 minichromosome maintenance complex component 6 JBrowse link 13 45,042,882 45,068,073 RGD:13592920
Lactose Intolerance, Adult Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mcm6 minichromosome maintenance complex component 6 JBrowse link 13 45,042,882 45,068,073 RGD:7240710
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:13592920
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 , French Canadian Type 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
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
lethal congenital glycogen storage disease of heart term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 JBrowse link 4 6,559,153 6,799,888 RGD:7240710
RGD:8554872
Lipoyltransferase 1 Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Coch cochlin JBrowse link 6 72,359,702 72,373,710 RGD:8554872
G F9 coagulation factor IX JBrowse link X 143,097,507 143,141,791 RGD:8554872
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:8554872
G Gemin4 gem (nuclear organelle) associated protein 4 JBrowse link 10 64,364,808 64,375,885 RGD:8554872
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
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 JBrowse link 3 22,998,900 23,020,441 RGD:8554872
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872
G Tgfbr2 transforming growth factor, beta receptor 2 JBrowse link 8 124,310,288 124,399,345 RGD:8554872
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:8554872
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
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 pyruvate carrier deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mpc1 mitochondrial pyruvate carrier 1 JBrowse link 1 53,026,608 53,038,229 RGD:7240710
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
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
mucopolysaccharidosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arsg arylsulfatase G JBrowse link 10 97,722,550 97,859,975 RGD:13592920
G Hyal1 hyaluronidase 1 JBrowse link 8 116,332,834 116,337,522 RGD:1599811
G Idua iduronidase, alpha-L- JBrowse link 14 2,041,828 2,056,762 RGD:8554872
mucopolysaccharidosis I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Idua iduronidase, alpha-L- JBrowse link 14 2,041,828 2,056,762 RGD:1599894
RGD:8554872
RGD:11069860
RGD:11068482
RGD:12910721
RGD:12910720
RGD:12910719
RGD:12910718
RGD:12910716
RGD:12910516
RGD:12910513
RGD:12910510
RGD:12910509
RGD:12910508
RGD:12910504
RGD:12910503
RGD:12910502
RGD:12910501
RGD:12910499
RGD:12910497
RGD:11554173
RGD:7240710
G Slc26a1 solute carrier family 26 member 1 JBrowse link 14 2,050,805 2,056,091 RGD:8554872
mucopolysaccharidosis II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ids iduronate 2-sulfatase JBrowse link 8 69,447,971 69,466,708 RGD:1599819
RGD:8554872
RGD:12910721
RGD:7240710
mucopolysaccharidosis III term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Coasy Coenzyme A synthase JBrowse link 10 88,992,413 88,996,677 RGD:1642057
G Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta JBrowse link 7 28,956,363 29,023,232 RGD:8554872
G Gns glucosamine (N-acetyl)-6-sulfatase JBrowse link 7 63,467,027 63,501,054 RGD:1599248
RGD:8554872
RGD:11554173
RGD:7240710
G Hgsnat heparan-alpha-glucosaminide N-acetyltransferase JBrowse link 16 70,876,557 70,909,443 RGD:7240710
RGD:8554872
G Mok MOK protein kinase JBrowse link 6 135,228,755 135,259,645 RGD:8554872
G Naglu N-acetyl-alpha-glucosaminidase JBrowse link 10 88,979,363 88,986,879 RGD:7241018
RGD:8554872
RGD:7241016
RGD:7241013
RGD:7241012
RGD:7240710
G Pomk protein-O-mannose kinase JBrowse link 16 70,854,825 70,869,653 RGD:8554872
G Sgsh N-sulfoglucosamine sulfohydrolase JBrowse link 10 108,469,312 108,479,094 RGD:7240710
RGD:8554872
G Slc26a11 solute carrier family 26 member 11 JBrowse link 10 108,479,105 108,504,188 RGD:8554872
mucopolysaccharidosis IV term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aprt adenine phosphoribosyl transferase JBrowse link 19 55,387,288 55,389,256 RGD:8554872
G Ccl11 C-C motif chemokine ligand 11 JBrowse link 10 69,434,965 69,439,566 RGD:7247741
G Galns galactosamine (N-acetyl)-6-sulfatase JBrowse link 19 55,391,004 55,423,328 RGD:7240710
RGD:8554872
G Glb1 galactosidase, beta 1 JBrowse link 8 122,439,328 122,511,939 RGD:1598984
RGD:8554872
RGD:12910454
RGD:11554173
RGD:7240710
G Trappc2l trafficking protein particle complex 2-like JBrowse link 19 55,423,350 55,428,551 RGD:8554872
mucopolysaccharidosis IX term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hyal1 hyaluronidase 1 JBrowse link 8 116,332,834 116,337,522 RGD:7240710
RGD:8554872
mucopolysaccharidosis VI term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif, 5 JBrowse link 11 25,411,174 25,456,639 RGD:10043113
G Arsb arylsulfatase B JBrowse link 2 23,385,154 23,543,028 RGD:631738
RGD:8554872
RGD:1599228
RGD:11554173
RGD:7240710
G ArsbMPR arylsulfatase B; MPR mutant RGD:631738
G Gusb glucuronidase, beta JBrowse link 12 30,202,066 30,215,583 RGD:8554872
MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vps33a VPS33A core subunit of CORVET and HOPS complexes JBrowse link 12 38,459,816 38,482,903 RGD:8554872
RGD:7240710
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
NGLY1-deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ngly1 N-glycanase 1 JBrowse link 15 10,405,453 10,455,973 RGD:7240710
RGD:8554872
Ogden syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit JBrowse link X 156,863,655 156,868,950 RGD:7240710
RGD:8554872
Pentosuria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcxr dicarbonyl and L-xylulose reductase JBrowse link 10 109,906,119 109,909,696 RGD:7240710
RGD:11554173
RGD:8554872
PHGDH deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hmgcs2 3-hydroxy-3-methylglutaryl-CoA synthase 2 JBrowse link 2 200,452,623 200,480,785 RGD:8554872
G Phgdh phosphoglycerate dehydrogenase JBrowse link 2 200,484,245 200,513,564 RGD:7240710
RGD:8554872
Phosphoenolpyruvate Carboxykinase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pck1 phosphoenolpyruvate carboxykinase 1 JBrowse link 3 171,213,936 171,219,885 RGD:7240710
RGD:8554872
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
Polyglucosan Body Disease, Adult Form term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gbe1 1,4-alpha-glucan branching enzyme 1 JBrowse link 11 7,210,169 7,485,895 RGD:7240710
RGD:8554872
POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rbck1 RANBP2-type and C3HC4-type zinc finger containing 1 JBrowse link 3 147,793,014 147,809,941 RGD:8554872
RGD:7240710
POLYGLUCOSAN BODY MYOPATHY 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gyg1 glycogenin 1 JBrowse link 2 104,916,734 104,958,219 RGD:8554872
RGD:7240710
primary hyperoxaluria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agxt alanine--glyoxylate and serine--pyruvate aminotransferase JBrowse link 9 100,281,339 100,291,292 RGD:8554872
G Grhpr glyoxylate and hydroxypyruvate reductase JBrowse link 5 60,528,981 60,538,410 RGD:1599318
RGD:13592920
RGD:8554872
G Hoga1 4-hydroxy-2-oxoglutarate aldolase 1 JBrowse link 1 261,291,742 261,319,743 RGD:8554872
RGD:13592920
Primary Hyperoxaluria Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agxt alanine--glyoxylate and serine--pyruvate aminotransferase JBrowse link 9 100,281,339 100,291,292 RGD:7240710
RGD:8554872
G Ankmy1 ankyrin repeat and MYND domain containing 1 JBrowse link 9 100,026,435 100,074,274 RGD:8554872
G Aqp12a aquaporin 12A JBrowse link 9 100,156,154 100,166,218 RGD:8554872
G Capn10 calpain 10 JBrowse link 9 100,104,000 100,112,833 RGD:8554872
G Cops9 COP9 signalosome subunit 9 JBrowse link 9 99,813,332 99,818,262 RGD:8554872
G Dusp28 dual specificity phosphatase 28 JBrowse link 9 100,072,421 100,078,487 RGD:8554872
G Gpc1 glypican 1 JBrowse link 9 99,998,275 100,026,818 RGD:8554872
G Gpr35 G protein-coupled receptor 35 JBrowse link 9 100,129,428 100,141,269 RGD:8554872
G Gpt glutamic--pyruvic transaminase JBrowse link 7 117,759,083 117,761,932 RGD:13782155
G Hdac4 histone deacetylase 4 JBrowse link 9 99,052,945 99,299,715 RGD:8554872
G Kif1a kinesin family member 1A JBrowse link 9 100,171,851 100,253,626 RGD:8554872
G Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 JBrowse link 9 99,617,051 99,651,827 RGD:8554872
G Olr1343 olfactory receptor 1343 JBrowse link 9 99,656,296 99,659,425 RGD:8554872
G Otos otospiralin JBrowse link 9 99,819,578 99,824,218 RGD:8554872
G Prr21 proline rich 21 JBrowse link 4 61,220,386 61,222,956 RGD:8554872
G Rnpepl1 arginyl aminopeptidase like 1 JBrowse link 9 100,080,144 100,089,834 RGD:8554872
Primary Hyperoxaluria Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grhpr glyoxylate and hydroxypyruvate reductase JBrowse link 5 60,528,981 60,538,410 RGD:7240710
RGD:8554872
Primary Hyperoxaluria Type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoga1 4-hydroxy-2-oxoglutarate aldolase 1 JBrowse link 1 261,291,742 261,319,743 RGD:7240710
RGD:8554872
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
G Slc26a11 solute carrier family 26 member 11 JBrowse link 10 108,479,105 108,504,188 RGD:8554872
pyruvate carboxylase deficiency disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col17a1 collagen type XVII alpha 1 chain JBrowse link 1 267,416,681 267,465,049 RGD:8554872
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
pyruvate kinase deficiency of red cells term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hcn3 hyperpolarization-activated cyclic nucleotide-gated potassium channel 3 JBrowse link 2 188,458,851 188,471,916 RGD:8554872
G Pklr pyruvate kinase L/R JBrowse link 2 188,449,158 188,458,034 RGD:7240710
RGD:8554872
RGD:11537470
RGD:11537382
RGD:11535996
Pyruvate Metabolism, Inborn Errors 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:11554173
Ribose 5-Phosphate Isomerase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rpia ribose 5-phosphate isomerase A JBrowse link 4 98,568,028 98,593,664 RGD:7240710
RGD:8554872
Scheie syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Idua iduronidase, alpha-L- JBrowse link 14 2,041,828 2,056,762 RGD:8554872
RGD:7240710
G Slc26a1 solute carrier family 26 member 1 JBrowse link 14 2,050,805 2,056,091 RGD:8554872
Sly syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gusb glucuronidase, beta JBrowse link 12 30,202,066 30,215,583 RGD:7240710
RGD:8554872
Sucrase-Isomaltase Deficiency, Congenital term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Si sucrase-isomaltase JBrowse link 2 170,220,794 170,301,348 RGD:7240710
RGD:8554872
Transaldolase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Taldo1 transaldolase 1 JBrowse link 1 214,375,555 214,385,886 RGD:7240710
RGD:8554872
Trehalase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Treh trehalase JBrowse link 8 48,983,802 48,998,072 RGD:7240710
RGD:8554872
triosephosphate isomerase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tpi1 triosephosphate isomerase 1 JBrowse link 4 157,328,375 157,331,905 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14920
    Nutritional and Metabolic Diseases 4265
      disease of metabolism 4265
        inherited metabolic disorder 1823
          carbohydrate metabolic disorder 304
            Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome 0
            Congenital Lactase Deficiency 1
            D-Glycericacidemia 1
            Fructose Metabolism, Inborn Errors + 5
            Fructose and Galactose Intolerance 0
            GLUT1 Deficiency Syndrome 1
            Glucose-Galactose Malabsorption 1
            Hyperproglucagonemia 0
            Lactate Dehydrogenase Deficiency 0
            Mannosidase Deficiency Diseases + 2
            Myopathy with Storage of Glycoproteins and Glycosaminoglycans 0
            NGLY1-deficiency 1
            Ogden syndrome 1
            PHGDH deficiency 2
            Pentosuria 1
            Phosphoenolpyruvate Carboxykinase Deficiency + 3
            Polysaccharide, Storage of Unusual 0
            Pyruvate Metabolism, Inborn Errors + 73
            Ribose 5-Phosphate Isomerase Deficiency 1
            Sucrase-Isomaltase Deficiency, Congenital 1
            Transaldolase Deficiency 1
            Trehalase Deficiency 1
            Xylosidase Deficiency 0
            childhood onset GLUT1 deficiency syndrome 2 1
            congenital disorder of glycosylation + 84
            fructose-1,6-bisphosphatase deficiency + 1
            fucosidosis 2
            galactosemia + 9
            glucosephosphate dehydrogenase deficiency + 7
            glycerol kinase deficiency 1
            glycogen metabolism disorder + 45
            glycogen storage disease + 45
            glycoproteinosis + 10
            hyperinsulinemic hypoglycemia + 8
            intestinal disaccharidase deficiency 0
            lactose intolerance + 2
            mucopolysaccharidosis + 25
            multiple carboxylase deficiency + 3
            primary hyperoxaluria + 18
            pyruvate carboxylase deficiency disease + 2
            pyruvate decarboxylase deficiency + 12
            triosephosphate isomerase deficiency 1
Path 2
Term Annotations click to browse term
  disease 14920
    Developmental Diseases 7769
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7091
        genetic disease 6451
          inherited metabolic disorder 1823
            carbohydrate metabolic disorder 304
              Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome 0
              Congenital Lactase Deficiency 1
              D-Glycericacidemia 1
              Fructose Metabolism, Inborn Errors + 5
              Fructose and Galactose Intolerance 0
              GLUT1 Deficiency Syndrome 1
              Glucose-Galactose Malabsorption 1
              Hyperproglucagonemia 0
              Lactate Dehydrogenase Deficiency 0
              Mannosidase Deficiency Diseases + 2
              Myopathy with Storage of Glycoproteins and Glycosaminoglycans 0
              NGLY1-deficiency 1
              Ogden syndrome 1
              PHGDH deficiency 2
              Pentosuria 1
              Phosphoenolpyruvate Carboxykinase Deficiency + 3
              Polysaccharide, Storage of Unusual 0
              Pyruvate Metabolism, Inborn Errors + 73
              Ribose 5-Phosphate Isomerase Deficiency 1
              Sucrase-Isomaltase Deficiency, Congenital 1
              Transaldolase Deficiency 1
              Trehalase Deficiency 1
              Xylosidase Deficiency 0
              childhood onset GLUT1 deficiency syndrome 2 1
              congenital disorder of glycosylation + 84
              fructose-1,6-bisphosphatase deficiency + 1
              fucosidosis 2
              galactosemia + 9
              glucosephosphate dehydrogenase deficiency + 7
              glycerol kinase deficiency 1
              glycogen metabolism disorder + 45
              glycogen storage disease + 45
              glycoproteinosis + 10
              hyperinsulinemic hypoglycemia + 8
              intestinal disaccharidase deficiency 0
              lactose intolerance + 2
              mucopolysaccharidosis + 25
              multiple carboxylase deficiency + 3
              primary hyperoxaluria + 18
              pyruvate carboxylase deficiency disease + 2
              pyruvate decarboxylase deficiency + 12
              triosephosphate isomerase 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.