ONTOLOGY REPORT - ANNOTATIONS


Term:inherited metabolic disorder
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Accession:DOID:655 term browser browse the term
Definition:Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.
Synonyms:exact_synonym: Inborn Errors Metabolisms;   Inborn Errors of Metabolism;   Inborn Metabolism Error;   Metabolic hereditary disorder;   Metabolism, Inborn Errors;   inborn metabolism disorder
 narrow_synonym: DISORDERS OF INTRACELLULAR COBALAMIN METABOLISM
 related_synonym: Carbonic anhydrase I deficiency;   Carbonic anhydrase I, Guam
 primary_id: MESH:D008661
 alt_id: RDO:0000348
 xref: OMIM:PS249270
For additional species annotation, visit the Alliance of Genome Resources.


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inherited metabolic disorder 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:11554173
G Adamtsl2 ADAMTS-like 2 JBrowse link 3 5,624,473 5,654,890 RGD:11554173
G Agxt2 alanine-glyoxylate aminotransferase 2 JBrowse link 2 60,337,667 60,379,144 RGD:11554173
G Bche butyrylcholinesterase JBrowse link 2 171,104,476 171,196,186 RGD:1601328
G Car1 carbonic anhydrase 1 JBrowse link 2 88,185,204 88,227,486 RGD:8554872
G Ces1d carboxylesterase 1D JBrowse link 19 15,195,514 15,239,827 RGD:11554173
G Ddc dopa decarboxylase JBrowse link 14 91,905,919 91,996,816 RGD:5128849
G Dhfr dihydrofolate reductase JBrowse link 2 21,931,887 21,958,927 RGD:11554173
G Dio1 iodothyronine deiodinase 1 JBrowse link 5 126,894,837 126,911,532 RGD:11554173
G Fmo3 flavin containing dimethylaniline monoxygenase 3 JBrowse link 13 80,837,418 80,856,214 RGD:1626461
G Gphn gephyrin JBrowse link 6 101,327,874 101,859,169 RGD:1558665
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 JBrowse link 19 37,476,083 37,481,326 RGD:1625078
G Itpa inosine triphosphatase JBrowse link 3 123,209,611 123,221,266 RGD:11554173
G Ldhb lactate dehydrogenase B JBrowse link 4 176,701,980 176,719,999 RGD:11554173
G Lepr leptin receptor JBrowse link 5 120,503,475 120,682,281 RGD:11554173
G Lig1 DNA ligase 1 JBrowse link 1 75,356,212 75,394,757 RGD:1600089
G Lmbrd1 LMBR1 domain containing 1 JBrowse link 9 30,939,555 31,038,381 RGD:8554872
G Mmab metabolism of cobalamin associated B JBrowse link 12 47,920,712 47,935,438 RGD:1600420
G Mmachc metabolism of cobalamin associated C JBrowse link 5 135,555,587 135,561,723 RGD:8554872
G Mmadhc metabolism of cobalamin associated D JBrowse link 3 35,783,511 35,801,474 RGD:8554872
G Mmut methylmalonyl-CoA mutase JBrowse link 9 23,323,934 23,352,144 RGD:11554173
G Mocs2 molybdenum cofactor synthesis 2 JBrowse link 2 46,980,964 46,992,886 RGD:1556492
RGD:13592920
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase JBrowse link 17 66,210,444 66,295,014 RGD:8554872
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase JBrowse link 1 37,743,089 37,774,485 RGD:8554872
G Myo5b myosin Vb JBrowse link 18 70,426,865 70,729,985 RGD:11554173
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 JBrowse link 9 69,919,863 69,953,182 RGD:1556706
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 JBrowse link 13 89,606,848 89,623,506 RGD:1600573
G Pla2g4a phospholipase A2 group IVA JBrowse link 13 67,062,252 67,206,688 RGD:11554173
G Pla2g7 phospholipase A2 group VII JBrowse link 9 19,935,754 19,978,013 RGD:11554173
G Selenbp1 selenium binding protein 1 JBrowse link 2 196,105,592 196,146,474 RGD:11554173
G Serpina7 serpin family A member 7 JBrowse link X 110,226,565 110,232,202 RGD:11554173
G Slc22a5 solute carrier family 22 member 5 JBrowse link 10 39,201,101 39,228,090 RGD:1624241
G Slc2a1 solute carrier family 2 member 1 JBrowse link 5 138,154,677 138,182,897 RGD:11554173
G Suox sulfite oxidase JBrowse link 7 3,098,228 3,102,179 RGD:1600121
G Tbx19 T-box 19 JBrowse link 13 83,403,263 83,426,305 RGD:1599334
G Tpi1 triosephosphate isomerase 1 JBrowse link 4 157,328,375 157,331,905 RGD:11554173
G Uqcrb ubiquinol-cytochrome c reductase binding protein JBrowse link 7 71,264,501 71,269,869 RGD:1599707
17,20-Lyase Deficiency, Isolated term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 JBrowse link 1 266,422,127 266,429,947 RGD:8554872
17-Hydroxysteroid Dehydrogenase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hsd17b3 hydroxysteroid (17-beta) dehydrogenase 3 JBrowse link 17 1,579,319 1,610,745 RGD:7240710
RGD:8554872
RGD:11554173
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B JBrowse link 7 76,750,045 76,780,817 RGD:8554872
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872
2,4-Dienoyl-CoA Reductase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Decr1 2,4-dienoyl-CoA reductase 1 JBrowse link 5 29,573,893 29,601,731 RGD:11554173
RGD:8554872
G Nadk2 NAD kinase 2, mitochondrial JBrowse link 2 58,462,588 58,504,735 RGD:8554872
RGD:7240710
2-Aminoadipic 2-Oxoadipic Aciduria 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
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 JBrowse link 17 76,306,585 76,358,058 RGD:7240710
RGD:8554872
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:8554872
G Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 JBrowse link 8 63,599,907 63,637,327 RGD:8554872
G Slc2a10 solute carrier family 2 member 10 JBrowse link 3 162,182,156 162,194,610 RGD:8554872
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 JBrowse link 12 47,698,915 47,737,902 RGD:8554872
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, mitochondrial 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:13506826
RGD:8554872
2-Methylbutyryl-CoA Dehydrogenase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acadsb acyl-CoA dehydrogenase, short/branched chain JBrowse link 1 201,981,362 202,022,771 RGD:7240710
RGD:8554872
3-Hydroxy-3-Methylglutaryl-CoA Lyase 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
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase JBrowse link 5 154,294,841 154,308,582 RGD:7240710
RGD:8554872
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 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:7240710
RGD:8554872
G Phgdh phosphoglycerate dehydrogenase JBrowse link 2 200,484,245 200,513,564 RGD:8554872
3-Hydroxyacyl-CoA Dehydrogenase Deficiency 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
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
G Mccc2 methylcrotonoyl-CoA carboxylase 2 JBrowse link 2 30,175,017 30,246,028 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:13592920
G Mccc2 methylcrotonoyl-CoA carboxylase 2 JBrowse link 2 30,175,017 30,246,028 RGD:13592920
3-methylglutaconic aciduria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Auh AU RNA binding methylglutaconyl-CoA hydratase JBrowse link 17 12,310,178 12,405,224 RGD:8554872
G Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 JBrowse link 2 120,503,093 120,531,782 RGD:8554872
3-methylglutaconic aciduria type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Auh AU RNA binding methylglutaconyl-CoA hydratase JBrowse link 17 12,310,178 12,405,224 RGD:7240710
RGD:8554872
3-methylglutaconic aciduria type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Opa3 OPA3, outer mitochondrial membrane lipid metabolism regulator JBrowse link 1 80,141,630 80,160,145 RGD:7240710
RGD:8554872
3-methylglutaconic aciduria type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 JBrowse link 2 120,503,093 120,531,782 RGD:7240710
RGD:8554872
3-methylglutaconic aciduria type IX term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Timm50 translocase of inner mitochondrial membrane 50 JBrowse link 1 85,470,810 85,480,813 RGD:8554872
RGD:7240710
3-methylglutaconic aciduria type VIII term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Htra2 HtrA serine peptidase 2 JBrowse link 4 113,883,671 113,886,833 RGD:8554872
RGD:7240710
G Loxl3 lysyl oxidase-like 3 JBrowse link 4 113,866,782 113,883,713 RGD:8554872
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clpb ClpB homolog, mitochondrial AAA ATPase chaperonin JBrowse link 1 166,739,372 166,866,095 RGD:7240710
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
5-Oxoprolinase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Oplah 5-oxoprolinase (ATP-hydrolysing) JBrowse link 7 117,353,951 117,394,205 RGD:7240710
RGD:8554872
abetalipoproteinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnmt1 DNA methyltransferase 1 JBrowse link 8 21,922,515 21,968,495 RGD:8554872
G Mttp microsomal triglyceride transfer protein JBrowse link 2 243,366,181 243,407,608 RGD:1581045
RGD:7240710
RGD:8554872
RGD:1581043
RGD:1581044
acatalasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cat catalase JBrowse link 3 93,379,872 93,412,058 RGD:8554872
RGD:7240710
RGD:11554173
Acetyl-Coa Carboxylase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acaca acetyl-CoA carboxylase alpha JBrowse link 10 71,519,392 71,719,910 RGD:7240710
Acid Phosphatase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acp2 acid phosphatase 2, lysosomal JBrowse link 3 80,020,346 80,030,365 RGD:7240710
acrodermatitis enteropathica term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc39a4 solute carrier family 39 member 4 JBrowse link 7 117,675,718 117,682,586 RGD:1599005
RGD:8554872
RGD:11554173
RGD:7240710
acute intermittent porphyria 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:8554872
G Hmbs hydroxymethylbilane synthase JBrowse link 8 48,667,278 48,674,673 RGD:4145271
RGD:8554872
RGD:11554173
RGD:7240710
RGD:4144787
G Ppox protoporphyrinogen oxidase JBrowse link 13 89,650,094 89,654,998 RGD:4145363
Acute Intermittent Porphyria, Nonerythroid Variant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hmbs hydroxymethylbilane synthase JBrowse link 8 48,667,278 48,674,673 RGD:8554872
acute porphyria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alad aminolevulinate dehydratase JBrowse link 5 78,368,867 78,379,206 RGD:13592920
G Cpox coproporphyrinogen oxidase JBrowse link 11 44,039,665 44,049,648 RGD:8554872
G Urod uroporphyrinogen decarboxylase JBrowse link 5 135,855,429 135,859,515 RGD:8554872
adenine phosphoribosyltransferase deficiency 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
RGD:7240710
G Galns galactosamine (N-acetyl)-6-sulfatase JBrowse link 19 55,391,004 55,423,328 RGD:8554872
Adenosine Monophosphate Deaminase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ampd1 adenosine monophosphate deaminase 1 JBrowse link 2 205,568,934 205,589,961 RGD:8554872
RGD:11554173
adenylosuccinase lyase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adsl adenylosuccinate lyase JBrowse link 7 122,157,201 122,192,328 RGD:7240710
RGD:8554872
RGD:11554173
Adrenal Hyperplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 JBrowse link 2 200,712,895 200,722,429 RGD:7240710
RGD:8554872
RGD:11554173
Adrenal Hyperplasia, Congenital, Type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 JBrowse link 1 266,422,127 266,429,947 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 Hmox1 heme oxygenase 1 JBrowse link 19 14,508,634 14,515,455 RGD:11554173
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:11554173
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 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 Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:11554173
G Timp1 TIMP metallopeptidase inhibitor 1 JBrowse link X 1,364,771 1,369,451 RGD:13204814
adult hypophosphatasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alpl alkaline phosphatase, biomineralization associated JBrowse link 5 156,086,496 156,141,513 RGD:7240710
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
AGAT deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Duox1 dual oxidase 1 JBrowse link 3 114,251,794 114,286,827 RGD:8554872
G Duox2 dual oxidase 2 JBrowse link 3 114,218,187 114,237,808 RGD:8554872
G Duoxa1 dual oxidase maturation factor 1 JBrowse link 3 114,241,057 114,251,720 RGD:8554872
G Duoxa2 dual oxidase maturation factor 2 JBrowse link 3 114,236,718 114,240,086 RGD:8554872
G Gatm glycine amidinotransferase JBrowse link 3 114,711,570 114,728,155 RGD:7240710
RGD:8554872
G Shf Src homology 2 domain containing F JBrowse link 3 114,288,021 114,307,334 RGD:8554872
G Slc28a2 solute carrier family 28 member 2 JBrowse link 3 114,355,003 114,647,382 RGD:8554872
G Sord sorbitol dehydrogenase JBrowse link 3 114,176,127 114,207,368 RGD:8554872
G Terb2 telomere repeat binding bouquet formation protein 2 JBrowse link 3 114,129,387 114,147,943 RGD:8554872
ALAD-Deficiency Porphyria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alad aminolevulinate dehydratase JBrowse link 5 78,368,867 78,379,206 RGD:7240710
RGD:8554872
G G6pd glucose-6-phosphate dehydrogenase JBrowse link X 156,274,800 156,293,935 RGD:10449130
Aland Island eye disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1f calcium voltage-gated channel subunit alpha1 F JBrowse link X 15,712,709 15,741,135 RGD:7240710
RGD:8554872
RGD:13782379
Albinism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpr143 G protein-coupled receptor 143 JBrowse link X 23,668,363 23,693,162 RGD:8554872
G Nrl neural retina leucine zipper JBrowse link 15 34,197,115 34,201,408 RGD:8554872
G Oca2 OCA2 melanosomal transmembrane protein JBrowse link 1 114,661,970 114,987,433 RGD:8554872
G Tyr tyrosinase JBrowse link 1 151,012,598 151,106,802 RGD:8694353
RGD:8554872
RGD:12792973
RGD:8694355
G Tyrem1Kyo tyrosinase; TALEN induced mutant1, Kyo RGD:12792973
G Tyrp1 tyrosinase-related protein 1 JBrowse link 5 98,387,291 98,406,083 RGD:8554872
Albright's hereditary osteodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnas GNAS complex locus JBrowse link 3 172,374,957 172,434,988 RGD:7240710
RGD:8554872
RGD:11568049
RGD:11568047
RGD:11554173
G Pthlh parathyroid hormone-like hormone JBrowse link 4 181,663,425 181,674,181 RGD:13592920
Alcoholic Fatty Liver term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adipoq adiponectin, C1Q and collagen domain containing JBrowse link 11 81,330,845 81,344,488 RGD:5686674
G Aldh2 aldehyde dehydrogenase 2 family member JBrowse link 12 40,466,418 40,498,813 RGD:1599041
G Cd36 CD36 molecule JBrowse link 4 14,150,309 14,191,498 RGD:11041117
G Crp C-reactive protein JBrowse link 13 91,080,448 91,081,358 RGD:9491781
G Ctsb cathepsin B JBrowse link 15 46,316,741 46,337,613 RGD:2315516
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 JBrowse link 1 213,511,892 213,522,195 RGD:11554173
G Dnmt1 DNA methyltransferase 1 JBrowse link 8 21,922,515 21,968,495 RGD:9588654
G Hamp hepcidin antimicrobial peptide JBrowse link 1 89,368,021 89,369,960 RGD:11041633
G Pemt phosphatidylethanolamine N-methyltransferase JBrowse link 10 46,339,821 46,404,640 RGD:1642369
G Ppara peroxisome proliferator activated receptor alpha JBrowse link 7 126,618,872 126,687,282 RGD:11554173
G Serpine1 serpin family E member 1 JBrowse link 12 22,641,104 22,651,482 RGD:11075083
G Serpinf1 serpin family F member 1 JBrowse link 10 62,241,750 62,254,145 RGD:2312349
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:1625694
G Stat4 signal transducer and activator of transcription 4 JBrowse link 9 54,340,649 54,457,753 RGD:7207884
alkaptonuria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hgd homogentisate 1, 2-dioxygenase JBrowse link 11 65,983,221 66,034,555 RGD:1599472
RGD:8554872
RGD:7240710
Alpers syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aqp4 aquaporin 4 JBrowse link 18 6,766,009 6,782,757 RGD:5148026
G Edar ectodysplasin-A receptor JBrowse link 20 28,179,132 28,263,092 RGD:8554872
G Fanci FA complementation group I JBrowse link 1 141,116,565 141,172,997 RGD:8554872
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8694184
RGD:8554872
RGD:11554173
RGD:8694317
RGD:8694284
G Ranbp2 RAN binding protein 2 JBrowse link 20
20
28,027,054
28,365,538
28,076,664
28,375,676
RGD:8554872
alpha 1-antitrypsin deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Serpina1 serpin family A member 1 JBrowse link 6 127,610,241 127,632,265 RGD:7240710
RGD:8554872
RGD:11554173
Alpha-Fetoprotein Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Afp alpha-fetoprotein JBrowse link 14 19,141,755 19,159,919 RGD:7240710
RGD:8554872
Alpha-Ketoglutarate Dehydrogenase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ogdh oxoglutarate dehydrogenase JBrowse link 14 86,414,924 86,481,903 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
alpha-methylacyl-CoA racemase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Amacr alpha-methylacyl-CoA racemase JBrowse link 2 60,949,276 60,961,342 RGD:7240710
RGD:8554872
G Slc45a2 solute carrier family 45, member 2 JBrowse link 2 60,966,671 60,999,398 RGD:8554872
amino acid metabolic disorder term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ahcy adenosylhomocysteinase JBrowse link 3 150,587,833 150,603,057 RGD:11554173
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 JBrowse link 6 108,146,552 108,167,185 RGD:11554173
G Arg1 arginase 1 JBrowse link 1 21,525,421 21,537,872 RGD:11554173
G Asl argininosuccinate lyase JBrowse link 12 30,160,922 30,178,348 RGD:734610
G Cth cystathionine gamma-lyase JBrowse link 2 264,266,959 264,293,040 RGD:1600761
G D2hgdh D-2-hydroxyglutarate dehydrogenase JBrowse link 9 100,956,570 100,974,393 RGD:11554173
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 JBrowse link 17 76,306,585 76,358,058 RGD:13592920
G Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 JBrowse link 3 110,159,624 110,245,382 RGD:11554173
G Gamt guanidinoacetate N-methyltransferase JBrowse link 7 12,314,848 12,317,998 RGD:1601275
RGD:11554173
G Gcdh glutaryl-CoA dehydrogenase JBrowse link 19 26,000,497 26,006,970 RGD:13592920
G Gclc glutamate-cysteine ligase, catalytic subunit JBrowse link 8 85,059,051 85,097,471 RGD:11554173
G Gcsh glycine cleavage system protein H JBrowse link 19 49,522,054 49,532,811 RGD:12904659
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase JBrowse link 5 154,294,841 154,308,582 RGD:1599500
G Ivd isovaleryl-CoA dehydrogenase JBrowse link 3 110,669,355 110,689,789 RGD:1600039
G Mat1a methionine adenosyltransferase 1A JBrowse link 16 18,690,649 18,709,135 RGD:11554173
G Nags N-acetylglutamate synthase JBrowse link 10 90,084,607 90,089,693 RGD:1600560
G Pcca propionyl-CoA carboxylase subunit alpha JBrowse link 15 108,960,509 109,306,879 RGD:1600306
G Pccb propionyl-CoA carboxylase subunit beta JBrowse link 8 109,368,887 109,418,871 RGD:1600331
G Phgdh phosphoglycerate dehydrogenase JBrowse link 2 200,484,245 200,513,564 RGD:1600412
G Prodh1 proline dehydrogenase 1 JBrowse link 11 87,058,478 87,075,785 RGD:1599206
RGD:11554173
G Psph phosphoserine phosphatase JBrowse link 12 30,514,128 30,526,551 RGD:11554173
G Secisbp2 SECIS binding protein 2 JBrowse link 17 13,555,348 13,586,595 RGD:11554173
G Slc25a15 solute carrier family 25 member 15 JBrowse link 16 74,505,318 74,554,523 RGD:1599239
RGD:1599240
G Slc7a7 solute carrier family 7 member 7 JBrowse link 15 33,013,346 33,059,733 RGD:11554173
G Xpc XPC complex subunit, DNA damage recognition and repair factor JBrowse link 4 123,134,457 123,161,985 RGD:11554173
Aminoacylase 1 Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acy1 aminoacylase 1 JBrowse link 8 115,134,792 115,140,171 RGD:8554872
RGD:7240710
Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krit1 KRIT1, ankyrin repeat containing JBrowse link 4 27,438,609 27,473,150 RGD:8554872
Angiotensin I-Converting Enzyme, Benign Serum Increase 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:8554872
Antley-Bixler syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link 1 200,590,951 200,696,946 RGD:11554173
RGD:8554872
RGD:12801485
G Por cytochrome p450 oxidoreductase JBrowse link 12 23,998,411 24,017,063 RGD:7240710
RGD:8554872
RGD:11554173
Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Por cytochrome p450 oxidoreductase JBrowse link 12 23,998,411 24,017,063 RGD:7240710
RGD:8554872
G Tmem120a transmembrane protein 120A JBrowse link 12 23,989,596 23,998,257 RGD:8554872
ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link 1 200,590,951 200,696,946 RGD:7240710
RGD:8554872
G Por cytochrome p450 oxidoreductase JBrowse link 12 23,998,411 24,017,063 RGD:11554173
Apolipoprotein A-I, Deficiency of term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apoa1 apolipoprotein A1 JBrowse link 8 50,525,091 50,526,875 RGD:7240710
RGD:8554872
APOLIPOPROTEIN A-II DEFICIENCY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apoa2 apolipoprotein A2 JBrowse link 13 89,596,872 89,598,805 RGD:7240710
RGD:8554872
Apolipoprotein C-III Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apoc3 apolipoprotein C3 JBrowse link 8 50,529,318 50,531,498 RGD:7240710
RGD:8554872
Apolipoprotein E, Deficiency or Defect of term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apoe apolipoprotein E JBrowse link 1 80,612,894 80,616,820 RGD:8554872
APP-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:11554173
RGD:8554872
RGD:7240710
apparent mineralocorticoid excess syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 JBrowse link 19 37,476,083 37,481,326 RGD:7240710
RGD:8554872
RGD:11554173
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha JBrowse link 10 97,940,705 97,959,199 RGD:11554173
Arakawa Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase JBrowse link 17 66,210,444 66,295,014 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
aromatase excess syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 JBrowse link 8 58,744,849 58,772,408 RGD:7240710
RGD:8554872
RGD:11554173
aromatic L-amino acid decarboxylase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ddc dopa decarboxylase JBrowse link 14 91,905,919 91,996,816 RGD:7240710
RGD:8554872
Arthritis, Gouty term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) JBrowse link 13 78,857,638 78,885,464 RGD:8554872
G Mmp2 matrix metallopeptidase 2 JBrowse link 19 15,542,771 15,570,589 RGD:8547877
G Mmp3 matrix metallopeptidase 3 JBrowse link 8 5,676,608 5,698,579 RGD:7241254
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:8547877
G Pomc proopiomelanocortin JBrowse link 6 28,382,937 28,388,771 RGD:11554173
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
aspartylglucosaminuria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aga aspartylglucosaminidase JBrowse link 16 41,222,225 41,234,169 RGD:7240710
RGD:8554872
Ataxia and Polyneuropathy, Adult-Onset 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
Ataxia Neuropathy Spectrum term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Twnk twinkle mtDNA helicase JBrowse link 1 264,756,060 264,762,892 RGD:8554872
atransferrinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hamp hepcidin antimicrobial peptide JBrowse link 1 89,368,021 89,369,960 RGD:11041615
G Tf transferrin JBrowse link 8 111,694,570 111,721,275 RGD:7240710
RGD:8554872
RGD:11554173
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 dominant hypocalcemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Amelx amelogenin, X-linked JBrowse link X 26,439,197 26,450,495 RGD:1599092
G Bglap bone gamma-carboxyglutamate protein JBrowse link 2 187,741,770 187,748,445 RGD:6483581
G Casr calcium-sensing receptor JBrowse link 11 67,188,204 67,262,261 RGD:1598940
RGD:8554872
RGD:7205656
RGD:7205497
RGD:7204717
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 JBrowse link 7 70,333,150 70,340,006 RGD:734871
G Gcm2 glial cells missing transcription factor 2 JBrowse link 17 21,490,402 21,499,516 RGD:8554872
G Pth parathyroid hormone JBrowse link 1 178,215,829 178,218,761 RGD:7242904
RGD:8554872
autosomal dominant hypocalcemia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Casr calcium-sensing receptor JBrowse link 11 67,188,204 67,262,261 RGD:8554872
RGD:7240710
autosomal dominant hypocalcemia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gna11 G protein subunit alpha 11 JBrowse link 7 11,033,400 11,047,284 RGD:7240710
RGD:8554872
Autosomal Dominant Hypocalcemia, with Bartter Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Casr calcium-sensing receptor JBrowse link 11 67,188,204 67,262,261 RGD:8554872
RGD:11554173
autosomal dominant hypophosphatemic rickets term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgf23 fibroblast growth factor 23 JBrowse link 4 159,622,404 159,630,082 RGD:1598933
RGD:8554872
RGD:10044239
RGD:7240710
autosomal dominant pseudohypoaldosteronism type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cul3 cullin 3 JBrowse link 9 86,044,485 86,129,066 RGD:8554872
G Klhl3 kelch-like family member 3 JBrowse link 17 6,924,423 7,029,374 RGD:8554872
G Nr3c2 nuclear receptor subfamily 3, group C, member 2 JBrowse link 19 34,408,275 34,761,003 RGD:1600930
RGD:8554872
RGD:7240710
G Stx16 syntaxin 16 JBrowse link 3 172,154,739 172,183,699 RGD:8554872
autosomal recessive hypercholesterolemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ldlrap1 low density lipoprotein receptor adaptor protein 1 JBrowse link 5 152,964,294 152,987,286 RGD:7240710
RGD:8554872
autosomal recessive hypophosphatemic rickets term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dmp1 dentin matrix acidic phosphoprotein 1 JBrowse link 14 6,889,851 6,923,961 RGD:8554872
RGD:13592920
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 JBrowse link 1 21,748,201 21,813,205 RGD:8554872
RGD:13592920
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
autosomal recessive pseudohypoaldosteronism type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ltbr lymphotoxin beta receptor JBrowse link 4 157,822,838 157,829,291 RGD:8554872
G Scnn1a sodium channel epithelial 1 alpha subunit JBrowse link 4 157,834,339 157,860,472 RGD:8554872
RGD:7240710
G Scnn1b sodium channel epithelial 1 beta subunit JBrowse link 1 191,829,547 191,883,991 RGD:8554872
RGD:7240710
G Scnn1g sodium channel epithelial 1 gamma subunit JBrowse link 1 191,704,397 191,738,271 RGD:8554872
RGD:7240710
G Tnfrsf1a TNF receptor superfamily member 1A JBrowse link 4 157,864,905 157,877,634 RGD:8554872
Barth syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnase1l1 deoxyribonuclease 1-like 1 JBrowse link X 156,429,521 156,438,066 RGD:8554872
G Fkbp1a FKBP prolyl isomerase 1A JBrowse link 3 147,042,944 147,062,725 RGD:13592920
G Mest mesoderm specific transcript JBrowse link 4 58,052,786 58,063,227 RGD:13592920
G Taz tafazzin JBrowse link X 156,421,006 156,429,461 RGD:7240710
RGD:8554872
RGD:11554173
Bartter disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bsnd barttin CLCNK type accessory beta subunit JBrowse link 5 126,071,849 126,080,647 RGD:1600603
RGD:8554872
G Clcnkb chloride voltage-gated channel Kb JBrowse link 5 159,950,384 159,973,576 RGD:11554173
G Kcnj1 potassium voltage-gated channel subfamily J member 1 JBrowse link 8 33,490,280 33,519,127 RGD:11554173
RGD:8554872
G Ren renin JBrowse link 13 50,502,724 50,513,953 RGD:11554173
G Slc12a1 solute carrier family 12 member 1 JBrowse link 3 117,421,531 117,498,372 RGD:1624188
RGD:8554872
RGD:11554173
Bartter disease type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gmppb GDP-mannose pyrophosphorylase B JBrowse link 8 116,826,251 116,856,159 RGD:8554872
G Slc12a1 solute carrier family 12 member 1 JBrowse link 3 117,421,531 117,498,372 RGD:7240710
RGD:8554872
Bartter disease type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnj1 potassium voltage-gated channel subfamily J member 1 JBrowse link 8 33,490,280 33,519,127 RGD:7240710
RGD:8554872
Bartter disease type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clcnka chloride voltage-gated channel Ka JBrowse link 5 159,931,497 159,946,483 RGD:8554872
G Clcnkb chloride voltage-gated channel Kb JBrowse link 5 159,950,384 159,973,576 RGD:7240710
RGD:8554872
Bartter disease type 4A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bsnd barttin CLCNK type accessory beta subunit JBrowse link 5 126,071,849 126,080,647 RGD:7240710
RGD:8554872
Bartter disease type 4b term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clcnka chloride voltage-gated channel Ka JBrowse link 5 159,931,497 159,946,483 RGD:8554872
RGD:7240710
G Clcnkb chloride voltage-gated channel Kb JBrowse link 5 159,950,384 159,973,576 RGD:7240710
Bartter disease type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Maged2 MAGE family member D2 JBrowse link 5 33,174,539 33,182,715 RGD:8554872
RGD:7240710
Bartter Syndrome Type 3, with Hypocalciuria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clcnkb chloride voltage-gated channel Kb JBrowse link 5 159,950,384 159,973,576 RGD:8554872
Beta-Aminoisobutyric Acid, Urinary Excretion of term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agxt2 alanine-glyoxylate aminotransferase 2 JBrowse link 2 60,337,667 60,379,144 RGD:8554872
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hibch 3-hydroxyisobutyryl-CoA hydrolase JBrowse link 9 53,446,185 53,526,727 RGD:7240710
RGD:8554872
beta-ketothiolase deficiency 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: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
Beta-Ureidopropionase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Upb1 beta-ureidopropionase 1 JBrowse link 20 14,167,383 14,193,724 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
bilirubin metabolic disorder term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcc2 ATP binding cassette subfamily C member 2 JBrowse link 1 263,554,426 263,612,556 RGD:1598605
RGD:11554173
RGD:11081004
RGD:631914
G Abcc3 ATP binding cassette subfamily C member 3 JBrowse link 10 82,047,308 82,116,928 RGD:2301069
G Alas2 5'-aminolevulinate synthase 2 JBrowse link X 23,167,576 23,187,356 RGD:11035235
G Bcl2 BCL2, apoptosis regulator JBrowse link 13 26,605,426 26,769,374 RGD:11522763
G Calb1 calbindin 1 JBrowse link 5 29,538,380 29,562,774 RGD:633843
G Csf3 colony stimulating factor 3 JBrowse link 10 86,616,785 86,619,160 RGD:11554173
G F12 coagulation factor XII JBrowse link 17 9,736,577 9,744,420 RGD:8554872
G F7 coagulation factor VII JBrowse link 16 81,824,610 81,834,923 RGD:1304286
G Hgf hepatocyte growth factor JBrowse link 4 15,435,460 15,505,377 RGD:8548604
G Hmbs hydroxymethylbilane synthase JBrowse link 8 48,667,278 48,674,673 RGD:4144803
G Hmgb1 high mobility group box 1 JBrowse link 12 7,082,529 7,090,246 RGD:10402168
G Slc34a1 solute carrier family 34 member 1 JBrowse link 17 9,747,766 9,762,739 RGD:8554872
G Slco1b2 solute carrier organic anion transporter family, member 1B2 JBrowse link 4 175,814,118 175,881,775 RGD:11554173
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:11554173
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 JBrowse link 9 95,295,701 95,302,822 RGD:6482854
RGD:8554872
RGD:11554173
RGD:10769337
RGD:6482855
G Ugt1a2 UDP glucuronosyltransferase 1 family, polypeptide A2 JBrowse link 9 95,285,592 95,302,822 RGD:8554872
G Ugt1a3 UDP glycosyltransferase 1 family, polypeptide A3 JBrowse link 9 95,274,707 95,302,822 RGD:8554872
G Ugt1a5 UDP glucuronosyltransferase family 1 member A5 JBrowse link 9 95,256,628 95,302,822 RGD:8554872
G Ugt1a6 UDP glucuronosyltransferase family 1 member A6 JBrowse link 9 95,241,609 95,302,822 RGD:8554872
G Ugt1a8 UDP glucuronosyltransferase family 1 member A8 JBrowse link 9 95,221,474 95,302,822 RGD:8554872
G Ugt1a9 UDP glucuronosyltransferase family 1 member A9 JBrowse link 9 95,161,157 95,302,822 RGD:8554872
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
Bisphosphoglycerate Mutase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bpgm bisphosphoglycerate mutase JBrowse link 4 61,912,210 61,940,697 RGD:7240710
RGD:1600522
RGD:8554872
Bjornstad syndrome 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
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 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
Broad-Betalipoproteinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apoe apolipoprotein E JBrowse link 1 80,612,894 80,616,820 RGD:8554872
Brown Oculocutaneous Albinism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Oca2 OCA2 melanosomal transmembrane protein JBrowse link 1 114,661,970 114,987,433 RGD:9491819
RGD:8554872
Brunner syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Maoa monoamine oxidase A JBrowse link X 6,554,698 6,620,722 RGD:7240710
RGD:8554872
Butyrylcholinesterase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bche butyrylcholinesterase JBrowse link 2 171,104,476 171,196,186 RGD:734636
RGD:7240710
RGD:8554872
RGD:11554173
G Cask calcium/calmodulin dependent serine protein kinase JBrowse link X 9,815,652 10,156,155 RGD:8554872
Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bche butyrylcholinesterase JBrowse link 2 171,104,476 171,196,186 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
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
CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ca5a carbonic anhydrase 5A JBrowse link 19 54,731,829 54,761,697 RGD:7240710
RGD:8554872
G Cps1 carbamoyl-phosphate synthase 1 JBrowse link 9 74,113,437 74,236,274 RGD:13628400
Carboxypeptidase N Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cpn1 carboxypeptidase N subunit 1 JBrowse link 1 263,733,887 263,762,758 RGD:7240710
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
Carnitine Acetyltransferase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crat carnitine O-acetyltransferase JBrowse link 3 8,967,984 8,981,959 RGD:8554872
carnitine palmitoyltransferase I deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cpt1a carnitine palmitoyltransferase 1A JBrowse link 1 218,568,157 218,629,679 RGD:7240710
RGD:8554872
carnitine palmitoyltransferase II deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cpt2 carnitine palmitoyltransferase 2 JBrowse link 5 127,505,646 127,523,016 RGD:8554872
RGD:13592920
G Czib CXXC motif containing zinc binding protein JBrowse link 5 127,489,349 127,498,734 RGD:8554872
Carnitine Palmitoyltransferase II Deficiency, Infantile term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cpt2 carnitine palmitoyltransferase 2 JBrowse link 5 127,505,646 127,523,016 RGD:7240710
RGD:8554872
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cpt2 carnitine palmitoyltransferase 2 JBrowse link 5 127,505,646 127,523,016 RGD:7240710
RGD:8554872
Carnitine-Acylcarnitine Translocase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc25a20 solute carrier family 25 member 20 JBrowse link 8 117,455,308 117,476,762 RGD:7240710
RGD:8554872
cerebral creatine deficiency syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gamt guanidinoacetate N-methyltransferase JBrowse link 7 12,314,848 12,317,998 RGD:8554872
cerebral folate receptor alpha deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Folr1 folate receptor 1 JBrowse link 1 166,934,457 166,945,864 RGD:7240710
RGD:8554872
Cerebrohepatorenal Syndrome, Variant Types 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:8554872
cerebrotendinous xanthomatosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 JBrowse link 9 81,968,285 81,998,213 RGD:1600872
RGD:8554872
RGD:11554173
RGD:7240710
G Gba glucosylceramidase beta JBrowse link 2 188,511,781 188,522,602 RGD:8554872
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
childhood hypophosphatasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alpl alkaline phosphatase, biomineralization associated JBrowse link 5 156,086,496 156,141,513 RGD:7240710
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
CHITOTRIOSIDASE DEFICIENCY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chit1 chitinase 1 JBrowse link 13 50,947,020 50,994,644 RGD:8554872
RGD:7240710
cholesterol ester storage disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lipa lipase A, lysosomal acid type JBrowse link 1 252,816,536 252,959,348 RGD:1600621
RGD:8554872
RGD:11554173
chronic progressive external ophthalmoplegia 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 Milr1 mast cell immunoglobulin-like receptor 1 JBrowse link 10 94,944,243 94,961,795 RGD:8554872
G Myf5 myogenic factor 5 JBrowse link 7 49,729,533 49,732,974 RGD:8554872
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:737726
RGD:11554173
RGD:8694204
RGD:8694183
RGD:8694170
RGD:8694163
G Polg2 DNA polymerase gamma 2, accessory subunit JBrowse link 10 94,968,836 94,979,259 RGD:8554872
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B JBrowse link 7 76,750,045 76,780,817 RGD:8554872
G Slc25a4 solute carrier family 25 member 4 JBrowse link 16 49,266,903 49,270,698 RGD:1580622
RGD:8554872
RGD:1580620
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
G Twnk twinkle mtDNA helicase JBrowse link 1 264,756,060 264,762,892 RGD:1600544
RGD:8554872
chylomicron retention disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pitpna phosphatidylinositol transfer protein, alpha JBrowse link 10 63,731,767 63,772,049 RGD:13592920
G Sar1b secretion associated, Ras related GTPase 1B JBrowse link 10 37,215,989 37,245,603 RGD:7240710
RGD:8554872
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 Loxhd1 lipoxygenase homology domains 1 JBrowse link 18 73,645,365 73,812,271 RGD:8554872
G Pcsk9 proprotein convertase subtilisin/kexin type 9 JBrowse link 5 126,031,368 126,053,726 RGD:8554872
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
coenzyme Q10 deficiency disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abi1 abl-interactor 1 JBrowse link 17 89,951,662 90,033,334 RGD:8554872
G Aptx aprataxin JBrowse link 5 56,987,714 57,009,481 RGD:8554872
G Ciapin1 cytokine induced apoptosis inhibitor 1 JBrowse link 19 10,596,923 10,612,414 RGD:8554872
G Coq2 coenzyme Q2, polyprenyltransferase JBrowse link 14 10,581,102 10,601,093 RGD:8554872
G Coq8a coenzyme Q8A JBrowse link 13 98,451,629 98,480,438 RGD:8554872
G Coq9 coenzyme Q9 JBrowse link 19 10,583,855 10,596,848 RGD:13592920
RGD:8554872
G Pdss1 decaprenyl diphosphate synthase subunit 1 JBrowse link 17 90,033,432 90,072,506 RGD:8554872
G Pdss2 decaprenyl diphosphate synthase subunit 2 JBrowse link 20 47,966,513 48,192,747 RGD:13592920
RGD:8554872
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mitf melanocyte inducing transcription factor JBrowse link 4 130,172,484 130,425,496 RGD:8554872
RGD:7240710
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 JBrowse link 6 99,282,850 99,350,367 RGD:8554872
RGD:7240710
Combined Malonic and Methylmalonic Aciduria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acsf3 acyl-CoA synthetase family member 3 JBrowse link 19 55,594,801 55,635,312 RGD:7240710
RGD:8554872
combined oxidative phosphorylation deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aars2 alanyl-tRNA synthetase 2, mitochondrial JBrowse link 9 17,869,301 17,881,762 RGD:8554872
RGD:13592920
G Aifm1 apoptosis inducing factor, mitochondria associated 1 JBrowse link X 135,304,063 135,343,062 RGD:8554872
RGD:13592920
G Atp5f1a ATP synthase F1 subunit alpha JBrowse link 18 74,156,553 74,164,490 RGD:13592920
G Avil advillin JBrowse link 7 70,292,565 70,310,588 RGD:8554872
G Copb2 coatomer protein complex subunit beta 2 JBrowse link 8 106,582,339 106,603,763 RGD:8554872
G Ears2 glutamyl-tRNA synthetase 2, mitochondrial JBrowse link 1 191,997,512 192,025,350 RGD:8554872
RGD:13592920
G Elac2 elaC ribonuclease Z 2 JBrowse link 10 51,478,378 51,501,167 RGD:13592920
G Fars2 phenylalanyl-tRNA synthetase 2, mitochondrial JBrowse link 17 29,006,981 29,438,906 RGD:13592920
G Gfm1 G elongation factor, mitochondrial 1 JBrowse link 2 164,601,575 164,646,478 RGD:8554872
RGD:13592920
G Gtpbp3 GTP binding protein 3 JBrowse link 16 19,897,135 19,902,226 RGD:13592920
G Lyrm4 LYR motif containing 4 JBrowse link 17 29,439,042 29,552,773 RGD:13592920
G Mphosph9 M-phase phosphoprotein 9 JBrowse link 12 37,700,282 37,766,487 RGD:8554872
G Mrpl3 mitochondrial ribosomal protein L3 JBrowse link 8 113,603,533 113,626,893 RGD:13592920
G Mrpl44 mitochondrial ribosomal protein L44 JBrowse link 9 85,542,763 85,547,814 RGD:13592920
G Mrps16 mitochondrial ribosomal protein S16 JBrowse link 15 4,351,292 4,353,694 RGD:8554872
RGD:13592920
G Mrps22 mitochondrial ribosomal protein S22 JBrowse link 8 106,604,421 106,617,591 RGD:8554872
RGD:13592920
G Mtfmt mitochondrial methionyl-tRNA formyltransferase JBrowse link 8 70,952,209 70,986,393 RGD:13592920
G Mto1 mitochondrial tRNA translation optimization 1 JBrowse link 8 85,807,703 85,832,263 RGD:13592920
G Nars2 asparaginyl-tRNA synthetase 2, mitochondrial JBrowse link 1 161,922,132 162,035,817 RGD:13592920
G Pnpt1 polyribonucleotide nucleotidyltransferase 1 JBrowse link 14 113,530,470 113,561,645 RGD:13592920
G Rab33a RAB33A, member RAS oncogene family JBrowse link X 135,348,799 135,360,204 RGD:8554872
G RGD1563482 similar to hypothetical protein FLJ38663 JBrowse link 12 37,680,152 37,682,994 RGD:8554872
RGD:13592920
G Rmnd1 required for meiotic nuclear division 1 homolog JBrowse link 1 40,948,843 40,982,669 RGD:13592920
G Sfxn4 sideroflexin 4 JBrowse link 1 282,213,610 282,236,851 RGD:13592920
G Tars2 threonyl-tRNA synthetase 2, mitochondrial JBrowse link 2 197,861,071 197,881,347 RGD:13592920
G Tsfm Ts translation elongation factor, mitochondrial JBrowse link 7 70,311,948 70,319,389 RGD:8554872
RGD:13592920
G Tufm Tu translation elongation factor, mitochondrial JBrowse link 1 197,903,582 197,907,189 RGD:8554872
RGD:13592920
G Vars2 valyl-tRNA synthetase 2, mitochondrial JBrowse link 20 3,588,462 3,599,514 RGD:13592920
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 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 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mto1 mitochondrial tRNA translation optimization 1 JBrowse link 8 85,807,703 85,832,263 RGD:7240710
RGD:8554872
Combined Oxidative Phosphorylation Deficiency 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fam13c family with sequence similarity 13, member C JBrowse link 20 19,358,869 19,470,212 RGD:8554872
G Frem2 FRAS1 related extracellular matrix 2 JBrowse link 2 142,747,501 142,885,604 RGD:8554872
G Pacs1 phosphofurin acidic cluster sorting protein 1 JBrowse link 1 220,515,117 220,645,611 RGD:8554872
G Rmnd1 required for meiotic nuclear division 1 homolog JBrowse link 1 40,948,843 40,982,669 RGD:7240710
RGD:8554872
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:8554872
G Tsen54 tRNA splicing endonuclease subunit 54 JBrowse link 10 104,358,401 104,366,926 RGD:8554872
Combined Oxidative Phosphorylation Deficiency 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ears2 glutamyl-tRNA synthetase 2, mitochondrial JBrowse link 1 191,997,512 192,025,350 RGD:7240710
RGD:8554872
Combined Oxidative Phosphorylation Deficiency 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnpt1 polyribonucleotide nucleotidyltransferase 1 JBrowse link 14 113,530,470 113,561,645 RGD:7240710
RGD:8554872
Combined Oxidative Phosphorylation Deficiency 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fars2 phenylalanyl-tRNA synthetase 2, mitochondrial JBrowse link 17 29,006,981 29,438,906 RGD:7240710
RGD:8554872
G Lyrm4 LYR motif containing 4 JBrowse link 17 29,439,042 29,552,773 RGD:8554872
Combined Oxidative Phosphorylation Deficiency 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mtfmt mitochondrial methionyl-tRNA formyltransferase JBrowse link 8 70,952,209 70,986,393 RGD:7240710
RGD:8554872
Combined Oxidative Phosphorylation Deficiency 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mrpl44 mitochondrial ribosomal protein L44 JBrowse link 9 85,542,763 85,547,814 RGD:7240710
RGD:8554872
Combined Oxidative Phosphorylation Deficiency 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Elac2 elaC ribonuclease Z 2 JBrowse link 10 51,478,378 51,501,167 RGD:7240710
RGD:8554872
Combined Oxidative Phosphorylation Deficiency 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sfxn4 sideroflexin 4 JBrowse link 1 282,213,610 282,236,851 RGD:7240710
RGD:8554872
Combined Oxidative Phosphorylation Deficiency 19 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lyrm4 LYR motif containing 4 JBrowse link 17 29,439,042 29,552,773 RGD:7240710
RGD:8554872
Combined Oxidative Phosphorylation Deficiency 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mrps16 mitochondrial ribosomal protein S16 JBrowse link 15 4,351,292 4,353,694 RGD:7240710
RGD:8554872
Combined Oxidative Phosphorylation Deficiency 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vars2 valyl-tRNA synthetase 2, mitochondrial JBrowse link 20 3,588,462 3,599,514 RGD:7240710
RGD:8554872
Combined Oxidative Phosphorylation Deficiency 21 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tars2 threonyl-tRNA synthetase 2, mitochondrial JBrowse link 2 197,861,071 197,881,347 RGD:7240710
RGD:8554872
Combined Oxidative Phosphorylation Deficiency 22 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp5f1a ATP synthase F1 subunit alpha JBrowse link 18 74,156,553 74,164,490 RGD:7240710
RGD:8554872
Combined Oxidative Phosphorylation Deficiency 23 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gtpbp3 GTP binding protein 3 JBrowse link 16 19,897,135 19,902,226 RGD:7240710
RGD:8554872
Combined Oxidative Phosphorylation Deficiency 24 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nars2 asparaginyl-tRNA synthetase 2, mitochondrial JBrowse link 1 161,922,132 162,035,817 RGD:7240710
RGD:8554872
Combined Oxidative Phosphorylation Deficiency 25 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mars2 methionyl-tRNA synthetase 2, mitochondrial JBrowse link 9 64,434,814 64,437,730 RGD:7240710
RGD:8554872
Combined Oxidative Phosphorylation Deficiency 26 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trmt5 tRNA methyltransferase 5 JBrowse link 6 96,164,579 96,171,680 RGD:7240710
RGD:8554872
Combined Oxidative Phosphorylation Deficiency 27 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cars2 cysteinyl-tRNA synthetase 2, mitochondrial JBrowse link 16 83,288,613 83,325,706 RGD:7240710
RGD:8554872
Combined Oxidative Phosphorylation Deficiency 28 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc25a26 solute carrier family 25 member 26 JBrowse link 4 126,522,335 126,615,402 RGD:8554872
RGD:7240710
Combined Oxidative Phosphorylation Deficiency 29 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Txn2 thioredoxin 2 JBrowse link 7 119,144,350 119,158,173 RGD:8554872
RGD:7240710
Combined Oxidative Phosphorylation Deficiency 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B JBrowse link 7 76,750,045 76,780,817 RGD:8554872
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872
G Tsfm Ts translation elongation factor, mitochondrial JBrowse link 7 70,311,948 70,319,389 RGD:7240710
RGD:8554872
Combined Oxidative Phosphorylation Deficiency 30 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trmt10c tRNA methyltransferase 10C, mitochondrial RNase P subunit JBrowse link 11 47,047,342 47,052,420 RGD:8554872
RGD:7240710
Combined Oxidative Phosphorylation Deficiency 31 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mipep mitochondrial intermediate peptidase JBrowse link 15 41,084,180 41,192,621 RGD:8554872
RGD:7240710
Combined Oxidative Phosphorylation Deficiency 32 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mrps34 mitochondrial ribosomal protein S34 JBrowse link 10 14,257,001 14,258,132 RGD:8554872
RGD:7240710
Combined Oxidative Phosphorylation Deficiency 33 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C1qbp complement C1q binding protein JBrowse link 10 57,613,876 57,618,527 RGD:8554872
RGD:7240710
Combined Oxidative Phosphorylation Deficiency 34 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mrps7 mitochondrial ribosomal protein S7 JBrowse link 10 104,155,805 104,158,840 RGD:8554872
RGD:7240710
Combined Oxidative Phosphorylation Deficiency 35 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trit1 tRNA isopentenyltransferase 1 JBrowse link 5 140,711,943 140,756,893 RGD:8554872
RGD:7240710
Combined Oxidative Phosphorylation Deficiency 36 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mrps2 mitochondrial ribosomal protein S2 JBrowse link 3 7,051,695 7,056,726 RGD:8554872
RGD:7240710
Combined Oxidative Phosphorylation Deficiency 37 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Micos13 mitochondrial contact site and cristae organizing system subunit 13 JBrowse link 9 10,446,567 10,449,566 RGD:8554872
RGD:7240710
Combined Oxidative Phosphorylation Deficiency 39 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gfm2 G elongation factor, mitochondrial 2 JBrowse link 2 27,949,195 27,984,045 RGD:8554872
RGD:7240710
Combined Oxidative Phosphorylation Deficiency 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tufm Tu translation elongation factor, mitochondrial JBrowse link 1 197,903,582 197,907,189 RGD:7240710
RGD:8554872
Combined Oxidative Phosphorylation Deficiency 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mrps22 mitochondrial ribosomal protein S22 JBrowse link 8 106,604,421 106,617,591 RGD:7240710
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 Oxidative Phosphorylation Deficiency 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aars2 alanyl-tRNA synthetase 2, mitochondrial JBrowse link 9 17,869,301 17,881,762 RGD:7240710
RGD:8554872
G Sdhd succinate dehydrogenase complex subunit D JBrowse link 8 55,028,125 55,037,604 RGD:8554872
Combined Oxidative Phosphorylation Deficiency 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mrpl3 mitochondrial ribosomal protein L3 JBrowse link 8 113,603,533 113,626,893 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 adrenal hyperplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Avpr1a arginine vasopressin receptor 1A JBrowse link 7 67,341,366 67,345,290 RGD:11554173
G Avpr2 arginine vasopressin receptor 2 JBrowse link X 156,889,006 156,892,707 RGD:11554173
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 JBrowse link 8 62,798,317 62,809,848 RGD:1599693
G Cyp11b1 cytochrome P450, family 11, subfamily b, polypeptide 1 RGD:1600799
RGD:734864
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 JBrowse link 7 116,248,759 116,255,205 RGD:8554872
RGD:13592920
G Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 JBrowse link 7 116,155,928 116,161,781 RGD:13592920
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 JBrowse link 1 266,422,127 266,429,947 RGD:4889141
RGD:8554872
RGD:11554173
G Cyp21a1 cytochrome P450, family 21, subfamily a, polypeptide 1 JBrowse link 20 4,486,213 4,489,358 RGD:4889127
G Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 JBrowse link 2 200,712,895 200,722,429 RGD:8554872
RGD:11554173
G Htr4 5-hydroxytryptamine receptor 4 JBrowse link 18 57,637,013 57,820,317 RGD:11554173
G Pde8b phosphodiesterase 8B JBrowse link 2 24,718,548 24,955,533 RGD:11554173
G Por cytochrome p450 oxidoreductase JBrowse link 12 23,998,411 24,017,063 RGD:4889128
RGD:11554173
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha JBrowse link 10 97,940,705 97,959,199 RGD:11554173
G Star steroidogenic acute regulatory protein JBrowse link 16 71,036,204 71,040,847 RGD:1600070
RGD:13592920
RGD:8554872
RGD:4145592
G Tnxb tenascin XB RGD:8554872
Congenital Adrenal Hyperplasia due to 11-Beta-Hydroxylase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 JBrowse link 7 116,248,759 116,255,205 RGD:7240710
RGD:8554872
Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cbx2 chromobox 2 JBrowse link 10 108,132,105 108,140,935 RGD:8554872
G Col5a2 collagen type V alpha 2 chain JBrowse link 9 52,091,088 52,238,735 RGD:8554872
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:8554872
G Dsp desmoplakin JBrowse link 17 27,286,811 27,334,453 RGD:8554872
G Igfals insulin-like growth factor binding protein, acid labile subunit JBrowse link 10 14,240,308 14,243,554 RGD:12910854
G Igfbp3 insulin-like growth factor binding protein 3 JBrowse link 14 87,457,647 87,465,374 RGD:12910854
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:8554872
G Tgfb2 transforming growth factor, beta 2 JBrowse link 13 105,039,639 105,142,010 RGD:8554872
G Tnxb tenascin XB RGD:8554872
Congenital Adrenal Hypoplasia with Precocious Puberty term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nr0b1 nuclear receptor subfamily 0, group B, member 1 JBrowse link X 54,734,385 54,738,513 RGD:8554872
congenital bile acid synthesis defect term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akr1d1 aldo-keto reductase family 1, member D1 JBrowse link 4 65,110,706 65,143,930 RGD:8554872
G Cyp7b1 cytochrome P450 family 7 subfamily B member 1 JBrowse link 2 102,701,903 102,871,257 RGD:8554872
congenital bile acid synthesis defect 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hsd3b7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 JBrowse link 1 199,248,084 199,251,745 RGD:7240710
RGD:8554872
G Tjp2 tight junction protein 2 JBrowse link 1 241,945,816 242,084,044 RGD:8554872
congenital bile acid synthesis defect 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akr1d1 aldo-keto reductase family 1, member D1 JBrowse link 4 65,110,706 65,143,930 RGD:7240710
RGD:8554872
RGD:11554173
congenital bile acid synthesis defect 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp7b1 cytochrome P450 family 7 subfamily B member 1 JBrowse link 2 102,701,903 102,871,257 RGD:7240710
RGD:8554872
congenital bile acid synthesis defect 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Amacr alpha-methylacyl-CoA racemase JBrowse link 2 60,949,276 60,961,342 RGD:7240710
RGD:8554872
congenital bile acid synthesis defect 5 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
RGD:7240710
congenital bile acid synthesis defect 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acox2 acyl-CoA oxidase 2 JBrowse link 15 18,449,304 18,481,472 RGD:8554872
RGD:7240710
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 generalized lipodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 JBrowse link 3 4,044,741 4,055,384 RGD:10047097
RGD:11554173
RGD:8554872
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin JBrowse link 1 225,035,956 225,046,137 RGD:8554872
RGD:11554173
congenital generalized lipodystrophy type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 JBrowse link 3 4,044,741 4,055,384 RGD:8554872
RGD:7240710
congenital generalized lipodystrophy type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin JBrowse link 1 225,035,956 225,046,137 RGD:8554872
RGD:7240710
G Pparg peroxisome proliferator-activated receptor gamma JBrowse link 4 147,274,055 147,399,383 RGD:13592920
congenital generalized lipodystrophy type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cav1 caveolin 1 JBrowse link 4 44,597,123 44,630,206 RGD:7240710
RGD:8554872
congenital generalized lipodystrophy type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cavin1 caveolae associated protein 1 JBrowse link 10 88,862,513 88,874,495 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
congenital intrinsic factor deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cblif cobalamin binding intrinsic factor JBrowse link 1 228,118,048 228,132,296 RGD:7240710
RGD:8554872
RGD:11049582
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
congenital secretory chloride diarrhea 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc26a3 solute carrier family 26 member 3 JBrowse link 6 50,725,085 50,766,306 RGD:7240710
RGD:8554872
congenital secretory sodium diarrhea 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Spint2 serine peptidase inhibitor, Kunitz type, 2 JBrowse link 1 87,199,373 87,221,826 RGD:7240710
RGD:8554872
Congenital Visceral Steatosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adk adenosine kinase JBrowse link 15 3,033,535 3,435,888 RGD:1300259
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
Coproporphyria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cpox coproporphyrinogen oxidase JBrowse link 11 44,039,665 44,049,648 RGD:8554872
cortisone reductase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G H6pd hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) JBrowse link 5 166,994,683 167,030,441 RGD:1625067
RGD:11554173
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 JBrowse link 13 111,946,626 111,996,536 RGD:1625067
RGD:11554173
cortisone reductase deficiency 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G H6pd hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) JBrowse link 5 166,994,683 167,030,441 RGD:8554872
RGD:7240710
cortisone reductase deficiency 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 JBrowse link 13 111,946,626 111,996,536 RGD:7240710
RGD:8554872
Coumarin Resistance term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp2a3 cytochrome P450, family 2, subfamily a, polypeptide 3 JBrowse link 1 83,653,248 83,662,118 RGD:8554872
G Cyp2c11 cytochrome P450, subfamily 2, polypeptide 11 JBrowse link 1 257,676,172 258,004,428 RGD:7240710
G F9 coagulation factor IX JBrowse link X 143,097,507 143,141,791 RGD:7240710
RGD:8554872
G Vkorc1 vitamin K epoxide reductase complex, subunit 1 JBrowse link 1 199,338,785 199,341,306 RGD:7240710
RGD:8554872
Coumarin Sensitivity term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp2a3 cytochrome P450, family 2, subfamily a, polypeptide 3 JBrowse link 1 83,653,248 83,662,118 RGD:8554872
G F9 coagulation factor IX JBrowse link X 143,097,507 143,141,791 RGD:8554872
G Vkorc1 vitamin K epoxide reductase complex, subunit 1 JBrowse link 1 199,338,785 199,341,306 RGD:8554872
Cowden-Like Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha JBrowse link 2 118,831,350 118,861,456 RGD:8554872
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:8554872
G Sdhb succinate dehydrogenase complex iron sulfur subunit B JBrowse link 5 159,484,378 159,505,063 RGD:8554872
Creatine Phosphokinase, Elevated Serum term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ano5 anoctamin 5 JBrowse link 1 106,873,580 106,971,769 RGD:11570564
RGD:8554872
G Astn2 astrotactin 2 JBrowse link 5 81,179,614 82,168,528 RGD:8554872
G Capn3 calpain 3 JBrowse link 3 112,227,486 112,278,408 RGD:8554872
G Cav3 caveolin 3 JBrowse link 4 144,382,945 144,398,919 RGD:7240710
RGD:8554872
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:8554872
G Gaa glucosidase, alpha, acid JBrowse link 10 108,395,873 108,412,999 RGD:8554872
G Gdap1 ganglioside-induced differentiation-associated-protein 1 JBrowse link 5 1,328,963 1,347,946 RGD:8554872
G Gmppb GDP-mannose pyrophosphorylase B JBrowse link 8 116,826,251 116,856,159 RGD:8554872
G Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 JBrowse link 1 114,453,033 114,653,787 RGD:8554872
G Lama2 laminin subunit alpha 2 JBrowse link 1 18,491,264 19,143,486 RGD:8554872
G Opa1 OPA1, mitochondrial dynamin like GTPase JBrowse link 11 74,717,600 74,793,902 RGD:8554872
G Pkd1 polycystin 1, transient receptor potential channel interacting JBrowse link 10 13,914,057 13,962,008 RGD:8554872
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
G Sgcb sarcoglycan, beta JBrowse link 14 37,113,194 37,128,623 RGD:8554872