ONTOLOGY REPORT - ANNOTATIONS


Term:Metabolic Diseases
go back to main search page
Accession:RDO:0003148 term browser browse the term
Definition:Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)
Synonyms:exact_synonym: Metabolic Disease;   Thesaurismoses;   Thesaurismosis
 primary_id: MESH:D008659


  • Rat
  • Mouse
  • Human
  • All
  • show annotations for term's descendants
  •     Sort by:
Metabolic Diseases term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Adrb2 adrenoceptor beta 2, surface GBrowse link Susceptibility ISS 18 58,174,958 58,177,000 RGD:1601124 RGD
G Baat bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) GBrowse link Susceptibility ISS 5 66,245,786 66,254,757 RGD:734629 RGD
G Ephx1 epoxide hydrolase 1, microsomal (xenobiotic) GBrowse link ISS 13 96,722,973 96,752,940 RGD:1601066 RGD
G Hspa8 heat shock 70kDa protein 8 GBrowse link IEP 8 43,784,035 43,787,760 RGD:4142786 RGD
G Mgat2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase GBrowse link ISS 6 91,137,262 91,139,751 RGD:1599932 RGD
G Mgat2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase GBrowse link ISS 6 91,137,262 91,139,751 RGD:1599930 RGD
G Nbn nibrin GBrowse link ISS 5 30,541,610 30,576,168 RGD:1600219 RGD
G Slc2a1 solute carrier family 2 (facilitated glucose transporter), member 1 GBrowse link ISS 5 139,690,801 139,719,021 RGD:1624245 RGD
G Srebf1 sterol regulatory element binding transcription factor 1 GBrowse link ISS 10 46,461,684 46,483,646 RGD:1581420 RGD
G Srebf1 sterol regulatory element binding transcription factor 1 GBrowse link Susceptibility ISS 10 46,461,684 46,483,646 RGD:2308809 RGD
G Srebf2 sterol regulatory element binding transcription factor 2 GBrowse link ISS 7 120,522,511 120,580,212 RGD:1581420 RGD
G Tjp2 tight junction protein 2 GBrowse link Susceptibility ISS 1 227,475,386 227,574,457 RGD:734629 RGD
Q Spl3 Serum phospholipid level QTL 3 GBrowse link IAGP 18 32,459,145 80,370,367 RGD:61055 RGD
17-Hydroxysteroid Dehydrogenase Deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Hsd17b3 hydroxysteroid (17-beta) dehydrogenase 3 GBrowse link ISS 17 6,554,164 6,585,525 RGD:7240710 OMIM
2-Methylbutyryl-Coa Dehydrogenase Deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Acadsb acyl-CoA dehydrogenase, short/branched chain GBrowse link ISS 1 190,987,657 191,026,275 RGD:7240710 OMIM
3-methylcrotonyl CoA carboxylase 1 deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Mccc1 methylcrotonoyl-CoA carboxylase 1 (alpha) GBrowse link ISS 2 122,416,660 122,469,557 RGD:7240710 OMIM
3-methylcrotonyl CoA carboxylase 2 deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Mccc2 methylcrotonoyl-CoA carboxylase 2 (beta) GBrowse link ISS 2 30,961,607 31,032,883 RGD:7240710 OMIM
3-Methylglutaconic Aciduria, Type I term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Auh AU RNA binding protein/enoyl-CoA hydratase GBrowse link ISS 17 18,147,850 18,251,863 RGD:7240710 OMIM
6-pyruvoyl-tetrahydropterin synthase deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Pts 6-pyruvoyl-tetrahydropterin synthase GBrowse link ISS 8 53,880,701 53,887,711 RGD:7240710 OMIM
Abetalipoproteinemia term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Mttp microsomal triglyceride transfer protein GBrowse link ISS 2 235,613,710 235,654,848 RGD:1581044 RGD
G Mttp microsomal triglyceride transfer protein GBrowse link ISS 2 235,613,710 235,654,848 RGD:1581043 RGD
G Mttp microsomal triglyceride transfer protein GBrowse link ISS 2 235,613,710 235,654,848 RGD:1581045 RGD
Acatalasia term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Cat catalase GBrowse link ISS 3 88,654,077 88,686,212 RGD:1300375 RGD
G Cat catalase GBrowse link ISS 3 88,654,077 88,686,212 RGD:7240710 OMIM
Acidemia, isovaleric term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ivd isovaleryl-CoA dehydrogenase GBrowse link ISS 3 105,374,429 105,394,861 RGD:7240710 OMIM
Acidosis, Renal Tubular term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Atp6v0a4 ATPase, H+ transporting, lysosomal V0 subunit A4 GBrowse link Susceptibility ISS 4 65,588,970 65,671,150 RGD:1599383 RGD
G Atp6v1b1 ATPase, H transporting, lysosomal V1 subunit B1 GBrowse link Susceptibility ISS 4 117,931,972 117,950,626 RGD:1599372 RGD
G Ctsb cathepsin B GBrowse link IEP 15 42,402,829 42,423,701 RGD:2315534 RGD
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 GBrowse link IEP 7 113,043,365 113,049,779 RGD:4891416 RGD
G Slc4a1 solute carrier family 4 (anion exchanger), member 1 GBrowse link ISS 10 91,454,824 91,471,072 RGD:7240710 OMIM
G Slc4a4 solute carrier family 4, sodium bicarbonate cotransporter, member 4 GBrowse link Susceptibility ISS 14 20,381,545 20,739,216 RGD:61794 RGD
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Acad9 acyl-CoA dehydrogenase family, member 9 GBrowse link ISS 2 122,562,974 122,585,953 RGD:7240710 OMIM
Adenosine monophosphate deaminase deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ampd1 adenosine monophosphate deaminase 1 GBrowse link ISS 2 198,308,512 198,331,019 RGD:7240710 OMIM
Adenylosuccinate lyase deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Adsl adenylosuccinate lyase GBrowse link ISS 7 119,223,582 119,248,151 RGD:7240710 OMIM
Adrenal hyperplasia 2 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 GBrowse link ISS 2 193,500,916 193,507,633 RGD:7240710 OMIM
Adrenal Hyperplasia, Congenital term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 GBrowse link ISS 8 61,793,976 61,805,308 RGD:1599693 RGD
G Cyp11b1 cytochrome P450, family 11, subfamily b, polypeptide 1 GBrowse link ISS 7 112,977,395 112,984,080 RGD:734864 RGD
G Cyp11b1 cytochrome P450, family 11, subfamily b, polypeptide 1 GBrowse link ISS 7 112,977,395 112,984,080 RGD:1600799 RGD
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 GBrowse link ISS 1 251,965,458 251,971,449 RGD:4889141 RGD
G Cyp21a1 cytochrome P450, family 21, subfamily a, polypeptide 1 GBrowse link ISS 20 4,125,357 4,128,518 RGD:4889127 RGD
G Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 GBrowse link ISS 2 193,500,916 193,507,633 RGD:1625113 RGD
G Pde8b phosphodiesterase 8B GBrowse link ISS 2 25,352,725 25,469,209 RGD:7240710 OMIM
G Por P450 (cytochrome) oxidoreductase GBrowse link ISS 12 22,078,629 22,097,301 RGD:4889128 RGD
G Star steroidogenic acute regulatory protein GBrowse link ISS 16 70,642,580 70,647,203 RGD:4145592 RGD
G Star steroidogenic acute regulatory protein GBrowse link Susceptibility ISS 16 70,642,580 70,647,203 RGD:1600070 RGD
S SDT.ZDF-Leprfa/Jtt SDT fatty IED RGD:2314024 RGD
Adrenal hyperplasia, congenital, type 5 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 GBrowse link ISS 1 251,965,458 251,971,449 RGD:7240710 OMIM
Adrenoleukodystrophy term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Abcd1 ATP-binding cassette, subfamily D (ALD), member 1 GBrowse link Susceptibility ISS X 159,614,569 159,635,963 RGD:1598655 RGD
G Abcd1 ATP-binding cassette, subfamily D (ALD), member 1 GBrowse link ISS X 159,614,569 159,635,963 RGD:7240710 OMIM
G Amn amnion associated transmembrane protein GBrowse link ISS 6 136,031,478 136,038,919 RGD:7240710 OMIM
Adult-onset citrullinemia type 2 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Slc25a13 solute carrier family 25 (aspartate/glutamate carrier), member 13 GBrowse link ISS 4 30,822,456 31,006,241 RGD:7240710 OMIM
AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase GBrowse link ISS 9 70,676,744 70,696,865 RGD:7240710 OMIM
Aland Island Eye Disease term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Cacna1f calcium channel, voltage-dependent, L type, alpha 1F subunit GBrowse link ISS X 26,908,850 26,937,165 RGD:7240710 OMIM
Albinism ocular late onset sensorineural deafness term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Mitf microphthalmia-associated transcription factor GBrowse link ISS 4 132,534,187 132,745,669 RGD:7240710 OMIM
G Tyr tyrosinase GBrowse link ISS 1 143,641,257 143,746,315 RGD:7240710 OMIM
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Hps1 Hermansky-Pudlak syndrome 1 homolog (human) GBrowse link ISS 1 248,109,643 248,134,450 RGD:7240710 OMIM
Albinism, Ocular term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Tyr tyrosinase GBrowse link ISS 1 143,641,257 143,746,315 RGD:7240710 OMIM
Albinism, Oculocutaneous term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Slc45a2 solute carrier family 45, member 2 GBrowse link ISS 2 60,349,773 60,383,838 RGD:1599921 RGD
G Tyr tyrosinase GBrowse link IAGP 1 143,641,257 143,746,315 RGD:1599687 RGD
G Tyr tyrosinase GBrowse link ISS 1 143,641,257 143,746,315 RGD:1599686 RGD
G Tyrp1 tyrosinase-related protein 1 GBrowse link ISS 5 99,518,306 99,537,289 RGD:1599692 RGD
Alexander Disease term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Gfap glial fibrillary acidic protein GBrowse link ISS 10 92,059,881 92,068,555 RGD:7240710 OMIM
Alkaptonuria term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Hgd homogentisate 1, 2-dioxygenase GBrowse link ISS 11 64,876,269 64,928,243 RGD:1599472 RGD
G Hgd homogentisate 1, 2-dioxygenase GBrowse link ISS 11 64,876,269 64,928,243 RGD:7240710 OMIM
Alpha-ketoglutarate dehydrogenase deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ogdh oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) GBrowse link ISS 14 87,022,994 87,090,768 RGD:7240710 OMIM
alpha-Mannosidosis term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Man2b1 mannosidase, alpha, class 2B, member 1 GBrowse link ISS 19 24,711,378 24,730,659 RGD:7240710 OMIM
Amino Acid Metabolism, Inborn Errors term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ahcy adenosylhomocysteinase GBrowse link ISS 3 145,544,834 145,560,058 RGD:7240710 OMIM
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 GBrowse link ISS 6 108,495,781 108,516,414 RGD:7240710 OMIM
G Asl argininosuccinate lyase GBrowse link ISS 12 27,702,882 27,720,230 RGD:734610 RGD
G Cps1 carbamoyl-phosphate synthetase 1 GBrowse link ISS 9 65,907,211 66,017,942 RGD:1600715 RGD
G Cth cystathionase (cystathionine gamma-lyase) GBrowse link ISS 2 256,056,562 256,082,248 RGD:1600761 RGD
G Gamt guanidinoacetate N-methyltransferase GBrowse link ISS 7 10,959,990 10,962,720 RGD:1601275 RGD
G Gclc glutamate-cysteine ligase, catalytic subunit GBrowse link ISS 8 82,724,429 82,762,848 RGD:7240710 OMIM
G Hmgcl 3-hydroxymethyl-3-methylglutaryl-CoA lyase GBrowse link ISS 5 154,730,232 154,743,974 RGD:1599500 RGD
G Ivd isovaleryl-CoA dehydrogenase GBrowse link ISS 3 105,374,429 105,394,861 RGD:1600039 RGD
G Nags N-acetylglutamate synthase GBrowse link ISS 10 91,211,490 91,215,624 RGD:1600560 RGD
G Pcca propionyl CoA carboxylase, alpha polypeptide GBrowse link ISS 15 107,659,723 108,028,929 RGD:1600306 RGD
G Pccb propionyl CoA carboxylase, beta polypeptide GBrowse link ISS 8 105,946,482 105,996,472 RGD:1600331 RGD
G Pepd peptidase D GBrowse link ISS 1 87,421,576 87,547,908 RGD:7240710 OMIM
G Phgdh phosphoglycerate dehydrogenase GBrowse link ISS 2 193,147,943 193,177,137 RGD:1600412 RGD
G Prodh proline dehydrogenase (oxidase) 1 GBrowse link ISS 11 84,905,060 84,922,229 RGD:1599206 RGD
G Slc25a15 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 GBrowse link ISS 16 74,280,827 74,301,105 RGD:1599239 RGD
G Slc25a15 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 GBrowse link ISS 16 74,280,827 74,301,105 RGD:1599240 RGD
G Slc7a7 solute carrier family 7 (amino acid transporter light chain, y+L system), member 7 GBrowse link ISS 15 32,431,748 32,471,526 RGD:1624296 RGD
Aminoacylase 1 deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Acy1 aminoacylase 1 GBrowse link ISS 8 111,576,888 111,581,571 RGD:7240710 OMIM
Amyloid Neuropathies, Familial term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ttr transthyretin GBrowse link IEA 18 12,406,571 12,413,680 RGD:1331525 RGD
Amyloidosis IX term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Osmr oncostatin M receptor GBrowse link ISS 2 56,080,700 56,121,463 RGD:7240710 OMIM
Amyloidosis, Familial term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Apoa1 apolipoprotein A-I ISS RGD:7241855 RGD
G Cst3 cystatin C GBrowse link ISS 3 137,650,903 137,654,776 RGD:2314354 RGD
G Fga fibrinogen alpha chain GBrowse link ISS 2 174,737,640 174,753,598 RGD:1601166 RGD
G Gsn gelsolin GBrowse link ISS 3 14,360,245 14,386,313 RGD:1599858 RGD
G Lyz2 lysozyme 2 GBrowse link ISS 7 56,607,708 56,613,004 RGD:1599840 RGD
G Lyz2 lysozyme 2 GBrowse link ISS 7 56,607,708 56,613,004 RGD:1599842 RGD
G Ttr transthyretin GBrowse link IEA 18 12,406,571 12,413,680 RGD:1331525 RGD
G Ttr transthyretin GBrowse link ISS 18 12,406,571 12,413,680 RGD:1580526 RGD
Amyloidosis, familial visceral term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Apoa1 apolipoprotein A-I ISS RGD:7240710 OMIM
G Fga fibrinogen alpha chain GBrowse link ISS 2 174,737,640 174,753,598 RGD:7240710 OMIM
Amyloidosis, Hereditary, Transthyretin-Related term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ttr transthyretin GBrowse link ISS 18 12,406,571 12,413,680 RGD:7240710 OMIM
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Por P450 (cytochrome) oxidoreductase GBrowse link ISS 12 22,078,629 22,097,301 RGD:7240710 OMIM
ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Fgfr2 fibroblast growth factor receptor 2 GBrowse link ISS 1 189,482,975 189,589,279 RGD:7240710 OMIM
Arginine:Glycine Amidinotransferase Deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Gatm glycine amidinotransferase (L-arginine:glycine amidinotransferase) GBrowse link ISS 3 109,558,043 109,565,432 RGD:7240710 OMIM
Argininosuccinic Aciduria term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Asl argininosuccinate lyase GBrowse link ISS 12 27,702,882 27,720,230 RGD:7240710 OMIM
Aromatase deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISS RGD:7240710 OMIM
Aromatic amino acid decarboxylase deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ddc dopa decarboxylase (aromatic L-amino acid decarboxylase) GBrowse link ISS 14 92,698,636 92,788,635 RGD:7240710 OMIM
Arthritis, Gouty term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Mmp3 matrix metallopeptidase 3 GBrowse link ISS 8 4,315,601 4,329,146 RGD:7241254 RGD
Aspartylglucosaminuria term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Aga aspartylglucosaminidase GBrowse link ISS 16 41,383,536 41,395,394 RGD:7240710 OMIM
Autosomal dominant distal renal tubular acidosis term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Slc4a1 solute carrier family 4 (anion exchanger), member 1 GBrowse link ISS 10 91,454,824 91,471,072 RGD:7240710 OMIM
Barth Syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Taz tafazzin GBrowse link ISS X 160,319,389 160,326,974 RGD:7240710 OMIM
Bartter Syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Bsnd Bartter syndrome, infantile, with sensorineural deafness (Barttin) GBrowse link ISS 5 127,542,219 127,551,017 RGD:1600603 RGD
G Kcnj1 potassium inwardly-rectifying channel, subfamily J, member 1 GBrowse link ISS 8 32,158,243 32,162,370 RGD:1580799 RGD
G Slc12a1 solute carrier family 12 (sodium/potassium/chloride transporters), member 1 GBrowse link ISS 3 112,455,897 112,534,752 RGD:1624188 RGD
G Slc12a3 solute carrier family 12 (sodium/chloride transporters), member 3 GBrowse link ISS 19 11,070,329 11,109,634 RGD:1580588 RGD
Bartter syndrome, antenatal , type 2 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Kcnj1 potassium inwardly-rectifying channel, subfamily J, member 1 GBrowse link ISS 8 32,158,243 32,162,370 RGD:7240710 OMIM
Bartter syndrome, antenatal type 1 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Slc12a1 solute carrier family 12 (sodium/potassium/chloride transporters), member 1 GBrowse link ISS 3 112,455,897 112,534,752 RGD:7240710 OMIM
Bartter syndrome, type 3 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Clcnkb chloride channel, voltage-sensitive Kb GBrowse link ISS 5 160,294,294 160,305,991 RGD:7240710 OMIM
Bartter Syndrome, Type 4A term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Bsnd Bartter syndrome, infantile, with sensorineural deafness (Barttin) GBrowse link ISS 5 127,542,219 127,551,017 RGD:7240710 OMIM
Bartter Syndrome, Type 4b term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Clcnka chloride channel, voltage-sensitive Ka GBrowse link ISS 5 160,274,377 160,290,369 RGD:7240710 OMIM
G Clcnkb chloride channel, voltage-sensitive Kb GBrowse link ISS 5 160,294,294 160,305,991 RGD:7240710 OMIM
Beta ketothiolase deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Acat1 acetyl-CoA acetyltransferase 1 GBrowse link ISS 8 57,044,478 57,072,970 RGD:7240710 OMIM
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Hibch 3-hydroxyisobutyryl-CoA hydrolase GBrowse link ISS 9 45,564,702 45,645,252 RGD:7240710 OMIM
beta-Mannosidosis term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Manba mannosidase, beta A, lysosomal GBrowse link ISS 2 232,983,989 233,077,788 RGD:7240710 OMIM
Beta-Ureidopropionase Deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Upb1 ureidopropionase, beta GBrowse link ISS 20 13,715,995 13,743,261 RGD:7240710 OMIM
Bile acid synthesis defect, congenital, 1 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Hsd3b7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 GBrowse link ISS 1 187,085,808 187,089,078 RGD:7240710 OMIM
Bile acid synthesis defect, congenital, 2 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Akr1d1 aldo-keto reductase family 1, member D1 GBrowse link ISS 4 64,972,908 65,005,896 RGD:7240710 OMIM
Bile acid synthesis defect, congenital, 4 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Amacr alpha-methylacyl-CoA racemase GBrowse link ISS 2 60,332,292 60,344,326 RGD:7240710 OMIM
Biotinidase Deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Btd biotinidase GBrowse link ISS 16 7,111,351 7,141,809 RGD:7240710 OMIM
BISPHOSPHOGLYCERATE MUTASE DEFICIENCY term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Bpgm 2,3-bisphosphoglycerate mutase GBrowse link ISS 4 61,858,884 61,888,007 RGD:7240710 OMIM
Brain Diseases, Metabolic, Inborn term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Gcdh glutaryl-CoA dehydrogenase GBrowse link ISS 19 24,919,470 24,925,943 RGD:704404 RGD
G Mc2r melanocortin 2 receptor (adrenocorticotropic hormone) GBrowse link ISS 18 64,591,344 64,601,883 RGD:1600747 RGD
G Mc2r melanocortin 2 receptor (adrenocorticotropic hormone) GBrowse link ISS 18 64,591,344 64,601,883 RGD:1600745 RGD
G Ndufs1 NADH dehydrogenase (ubiquinone) Fe-S protein 1 GBrowse link ISS 9 61,798,141 61,831,964 RGD:1556706 RGD
G Ndufs4 NADH dehydrogenase (ubiquinone) Fe-S protein 4 GBrowse link ISS 2 45,839,236 46,479,619 RGD:6484689 RGD
Canavan Disease term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Aspa aspartoacylase GBrowse link Model IAGP 10 60,178,509 60,199,207 RGD:1599298 RGD
G Aspa aspartoacylase GBrowse link Susceptibility ISS 10 60,178,509 60,199,207 RGD:1599291 RGD
G Aspa aspartoacylase GBrowse link ISS 10 60,178,509 60,199,207 RGD:7240710 OMIM
G Cspg4 chondroitin sulfate proteoglycan 4 GBrowse link ISS 8 60,610,835 60,645,877 RGD:5686858 RGD
G Glud1 glutamate dehydrogenase 1 GBrowse link ISS 16 9,965,718 9,999,254 RGD:6484588 RGD
S TRM/Kyo tremor rat Model TAS RGD:628404 RGD
S W-AspatmKyo IED RGD:628403 RGD
S W-AspatmKyo IED RGD:628404 RGD
Carbamoyl-Phosphate Synthase I Deficiency Disease term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Cps1 carbamoyl-phosphate synthetase 1 GBrowse link ISS 9 65,907,211 66,017,942 RGD:7240710 OMIM
Carbohydrate Metabolism, Inborn Errors term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Acat1 acetyl-CoA acetyltransferase 1 GBrowse link ISS 8 57,044,478 57,072,970 RGD:2326222 RGD
G Gk glycerol kinase GBrowse link ISS X 72,416,872 72,493,296 RGD:1601343 RGD
G Hmgcl 3-hydroxymethyl-3-methylglutaryl-CoA lyase GBrowse link IAGP 5 154,730,232 154,743,974 RGD:2326182 RGD
G Mpi mannose phosphate isomerase (mapped) GBrowse link ISS 8 61,298,820 61,306,727 RGD:1600452 RGD
G Oxct1 3-oxoacid CoA transferase 1 GBrowse link ISS 2 53,189,358 53,217,848 RGD:2326201 RGD
G Taldo1 transaldolase 1 GBrowse link ISS 1 201,582,856 201,593,187 RGD:1599293 RGD
G Tpi1 triosephosphate isomerase 1 GBrowse link ISS 4 160,933,341 160,936,871 RGD:1599584 RGD
Carboxypeptidase N Deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Cpn1 carboxypeptidase N, polypeptide 1 ISS RGD:7240710 OMIM
Carnitine palmitoyl transferase 1A deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Cpt1a carnitine palmitoyltransferase 1a, liver GBrowse link ISS 1 205,852,800 205,912,972 RGD:7240710 OMIM
Carnitine Palmitoyltransferase II Deficiency, Infantile term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Cpt2 carnitine palmitoyltransferase 2 GBrowse link ISS 5 129,007,685 129,025,501 RGD:7240710 OMIM
Carnitine Palmitoyltransferase II Deficiency, Late-Onset term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Cpt2 carnitine palmitoyltransferase 2 GBrowse link ISS 5 129,007,685 129,025,501 RGD:7240710 OMIM
Carnitine-Acylcarnitine Translocase Deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Slc25a20 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 GBrowse link ISS 8 113,715,211 113,737,063 RGD:7240710 OMIM
Cataract, Juvenile, With Microcornea And Glucosuria term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Slc16a12 solute carrier family 16, member 12 (monocarboxylic acid transporter 12) GBrowse link ISS 1 238,643,040 238,665,699 RGD:7240710 OMIM
Cerebral Amyloid Angiopathy, App-Related term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G App amyloid beta (A4) precursor protein GBrowse link ISS 11 24,457,855 24,693,851 RGD:7240710 OMIM
Cerebral Amyloid Angiopathy, Familial term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Cst3 cystatin C GBrowse link ISS 3 137,650,903 137,654,776 RGD:7240710 OMIM
Ceroid lipofuscinosis, neuronal 1, infantile term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ppt1 palmitoyl-protein thioesterase 1 GBrowse link ISS 5 142,153,498 142,173,401 RGD:7240710 OMIM
Ceroid lipofuscinosis, neuronal 3, Juvenile term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Cln3 ceroid-lipofuscinosis, neuronal 3 GBrowse link ISS 1 185,713,096 185,724,375 RGD:7240710 OMIM
Ceroid lipofuscinosis, neuronal 4 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Cln6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant GBrowse link ISS 8 66,987,057 67,002,013 RGD:7240710 OMIM
Ceroid lipofuscinosis, neuronal 5 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Cln5 ceroid-lipofuscinosis, neuronal 5 GBrowse link ISS 15 87,080,071 87,089,784 RGD:7240710 OMIM
Ceroid lipofuscinosis, neuronal 8 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Cln8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) GBrowse link ISS 16 79,569,745 79,579,636 RGD:7240710 OMIM
Ceroid Lipofuscinosis, Neuronal, 1 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ppt1 palmitoyl-protein thioesterase 1 GBrowse link ISS 5 142,153,498 142,173,401 RGD:7240710 OMIM
Ceroid Lipofuscinosis, Neuronal, 10 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ctsd cathepsin D GBrowse link ISS 1 202,619,669 202,631,545 RGD:7240710 OMIM
Ceroid Lipofuscinosis, Neuronal, 2 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Tpp1 tripeptidyl peptidase I GBrowse link ISS 1 163,490,394 163,496,517 RGD:7240710 OMIM
Ceroid Lipofuscinosis, Neuronal, 6 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Cln6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant GBrowse link ISS 8 66,987,057 67,002,013 RGD:7240710 OMIM
Cholesterol Ester Storage Disease term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Lipa lipase A, lysosomal acid, cholesterol esterase GBrowse link ISS 1 238,466,493 238,500,195 RGD:1600621 RGD
Chondrodysplasia Punctata, Rhizomelic term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Agps alkylglycerone phosphate synthase ISS RGD:1300366 RGD
G Gnpat glyceronephosphate O-acyltransferase GBrowse link ISS 19 55,033,777 55,059,491 RGD:704404 RGD
G Pex7 peroxisomal biogenesis factor 7 GBrowse link ISS 1 15,099,265 15,163,734 RGD:704404 RGD
G Pex7 peroxisomal biogenesis factor 7 GBrowse link ISS 1 15,099,265 15,163,734 RGD:7240710 OMIM
Chylomicron retention disease term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Sar1b SAR1 homolog B (S. cerevisiae) GBrowse link ISS 10 37,283,985 37,313,599 RGD:7240710 OMIM
Citrullinemia term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ass1 argininosuccinate synthase 1 GBrowse link Susceptibility ISS 3 10,578,717 10,622,332 RGD:1599301 RGD
G Ass1 argininosuccinate synthase 1 GBrowse link ISS 3 10,578,717 10,622,332 RGD:7240710 OMIM
G Slc25a13 solute carrier family 25 (aspartate/glutamate carrier), member 13 GBrowse link Susceptibility ISS 4 30,822,456 31,006,241 RGD:1599242 RGD
G Slc25a13 solute carrier family 25 (aspartate/glutamate carrier), member 13 GBrowse link ISS 4 30,822,456 31,006,241 RGD:1599241 RGD
G Slc25a15 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 GBrowse link ISS 16 74,280,827 74,301,105 RGD:1599239 RGD
G Slc25a15 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 GBrowse link ISS 16 74,280,827 74,301,105 RGD:1599240 RGD
COENZYME Q10 DEFICIENCY, PRIMARY, 1 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Coq2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase GBrowse link ISS 14 10,189,565 10,208,996 RGD:7240710 OMIM
Combined Saposin Deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Psap prosaposin GBrowse link ISS 20 27,595,048 27,621,574 RGD:7240710 OMIM
Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Cyp11b1 cytochrome P450, family 11, subfamily b, polypeptide 1 GBrowse link ISS 7 112,977,395 112,984,080 RGD:7240710 OMIM
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Cyp21a1 cytochrome P450, family 21, subfamily a, polypeptide 1 GBrowse link ISS 20 4,125,357 4,128,518 RGD:7240710 OMIM
Congenital atransferrinemia term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Tf transferrin GBrowse link ISS 8 108,217,774 108,244,487 RGD:7240710 OMIM
Congenital chloride diarrhea term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Slc26a3 solute carrier family 26, member 3 GBrowse link ISS 6 49,305,008 49,346,008 RGD:7240710 OMIM
Congenital disorder of glycosylation type 1A term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Pmm2 phosphomannomutase 2 GBrowse link ISS 10 7,001,340 7,022,517 RGD:7240710 OMIM
Congenital disorder of glycosylation type 1B term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Mpi mannose phosphate isomerase (mapped) GBrowse link ISS 8 61,298,820 61,306,727 RGD:7240710 OMIM
Congenital disorder of glycosylation type 1C term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Alg6 ALG6, alpha-1,3-glucosyltransferase GBrowse link ISS 5 120,404,086 120,453,774 RGD:7240710 OMIM
Congenital disorder of glycosylation type 1D term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Alg3 ALG3, alpha-1,3- mannosyltransferase GBrowse link ISS 11 82,507,540 82,535,341 RGD:7240710 OMIM
Congenital disorder of glycosylation type 1E term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Dpm1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit GBrowse link ISS 3 159,373,861 159,393,404 RGD:7240710 OMIM
Congenital disorder of glycosylation type 1F term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Mpdu1 mannose-P-dolichol utilization defect 1 GBrowse link ISS 10 56,474,179 56,480,188 RGD:7240710 OMIM
Congenital disorder of glycosylation type 1G term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Alg12 asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase GBrowse link ISS 7 127,109,296 127,123,482 RGD:7240710 OMIM
Congenital disorder of glycosylation type 1H term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Alg8 ALG8, alpha-1,3-glucosyltransferase GBrowse link ISS 1 154,607,442 154,628,227 RGD:7240710 OMIM
Congenital disorder of glycosylation type 1I term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Alg2 ALG2, alpha-1,3/1,6-mannosyltransferase GBrowse link ISS 5 64,092,017 64,096,576 RGD:7240710 OMIM
Congenital disorder of glycosylation type 1J term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Dpagt1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) GBrowse link ISS 8 47,305,087 47,311,488 RGD:7240710 OMIM
Congenital disorder of glycosylation type 1K term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Alg1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase GBrowse link ISS 10 10,460,098 10,470,815 RGD:7240710 OMIM
Congenital disorder of glycosylation type 1L term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Alg9 alpha-1,2-mannosyltransferase GBrowse link ISS 8 54,131,722 54,194,200 RGD:7240710 OMIM
Congenital disorder of glycosylation type 2A term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Mgat2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase GBrowse link ISS 6 91,137,262 91,139,751 RGD:7240710 OMIM
Congenital disorder of glycosylation type 2D term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G B4galt1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 GBrowse link ISS 5 58,196,388 58,243,231 RGD:7240710 OMIM
Congenital disorder of glycosylation type 2E term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Cog7 component of oligomeric golgi complex 7 GBrowse link ISS 1 180,753,411 180,812,765 RGD:7240710 OMIM
Congenital disorder of glycosylation, type 2C term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Slc35c1 solute carrier family 35, member C1 GBrowse link ISS 3 76,847,879 76,854,414 RGD:7240710 OMIM
Congenital disorder of glycosylation, type 2G term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Cog1 component of oligomeric golgi complex 1 GBrowse link ISS 10 103,279,513 103,292,311 RGD:7240710 OMIM
Congenital Disorder Of Glycosylation, Type IIF term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Slc35a1 solute carrier family 35 (CMP-sialic acid transporter), member A1 GBrowse link ISS 5 51,271,752 51,290,346 RGD:7240710 OMIM
Congenital Disorder Of Glycosylation, Type IIH term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Cog8 component of oligomeric golgi complex 8 GBrowse link ISS 19 36,904,222 36,914,972 RGD:7240710 OMIM
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Cog5 component of oligomeric golgi complex 5 GBrowse link ISS 6 49,523,386 50,200,662 RGD:7240710 OMIM
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Cog4 component of oligomeric golgi complex 4 GBrowse link ISS 19 40,769,219 40,803,409 RGD:7240710 OMIM
Congenital Disorder Of Glycosylation, Type In term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Rft1 RFT1 homolog (S. cerevisiae) GBrowse link ISS 16 6,058,924 6,092,957 RGD:7240710 OMIM
Congenital Disorder of Glycosylation, Type Io term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Dpm3 dolichyl-phosphate mannosyltransferase polypeptide 3 GBrowse link ISS 2 181,439,451 181,439,966 RGD:7240710 OMIM
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Alg11 ALG11, alpha-1,2-mannosyltransferase GBrowse link ISS 16 74,600,058 74,607,303 RGD:7240710 OMIM
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Srd5a3 steroid 5 alpha-reductase 3 GBrowse link ISS 14 34,318,370 34,333,413 RGD:7240710 OMIM
Congenital Disorders of Glycosylation term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G B4galt1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 GBrowse link ISS 5 58,196,388 58,243,231 RGD:1599432 RGD
G Pmm2 phosphomannomutase 2 GBrowse link ISS 10 7,001,340 7,022,517 RGD:1599134 RGD
G Pmm2 phosphomannomutase 2 GBrowse link ISS 10 7,001,340 7,022,517 RGD:1599132 RGD
Coproporphyria, Hereditary term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Cpox coproporphyrinogen oxidase GBrowse link ISS 11 42,748,703 42,758,686 RGD:7240710 OMIM
Corneal dystrophy, gelatinous drop-like term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Tacstd2 tumor-associated calcium signal transducer 2 GBrowse link ISS 4 97,803,151 97,804,851 RGD:7240710 OMIM
Cortisone reductase deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G H6pd hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) GBrowse link ISS 5 167,093,827 167,125,298 RGD:7240710 OMIM
Costeff optic atrophy syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Opa3 optic atrophy 3 GBrowse link ISS 1 78,592,874 78,611,029 RGD:7240710 OMIM
Creatine deficiency, X-linked term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Slc6a8 solute carrier family 6 (neurotransmitter transporter, creatine), member 8 GBrowse link ISS X 159,570,789 159,580,093 RGD:7240710 OMIM
CREATINE PHOSPHOKINASE, ELEVATED SERUM term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Cav3 caveolin 3 GBrowse link ISS 4 148,294,428 148,310,380 RGD:7240710 OMIM
Crigler Najjar syndrome, type 1 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ugt1a1 UDP glucuronosyltransferase 1 family, polypeptide A1 GBrowse link ISS 9 87,091,241 87,098,362 RGD:6482851 RGD
G Ugt1a1 UDP glucuronosyltransferase 1 family, polypeptide A1 GBrowse link ISS 9 87,091,241 87,098,362 RGD:6482856 RGD
G Ugt1a1 UDP glucuronosyltransferase 1 family, polypeptide A1 GBrowse link ISS 9 87,091,241 87,098,362 RGD:7240710 OMIM
Crigler Najjar syndrome, type 2 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ugt1a1 UDP glucuronosyltransferase 1 family, polypeptide A1 GBrowse link ISS 9 87,091,241 87,098,362 RGD:7240710 OMIM
Crigler-Najjar Syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ugt1a1 UDP glucuronosyltransferase 1 family, polypeptide A1 GBrowse link Susceptibility ISS 9 87,091,241 87,098,362 RGD:1600438 RGD
S Gunn-Ugt1a1jBluHsdRrrc Gunn rat Model TAS RGD:2292495 RGD
Cystinosis term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ctns cystinosin, lysosomal cystine transporter GBrowse link Susceptibility ISS 10 60,060,254 60,075,352 RGD:1601022 RGD
Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ctns cystinosin, lysosomal cystine transporter GBrowse link ISS 10 60,060,254 60,075,352 RGD:7240710 OMIM
Cystinosis, ocular nonnephropathic term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ctns cystinosin, lysosomal cystine transporter GBrowse link ISS 10 60,060,254 60,075,352 RGD:7240710 OMIM
Cystinuria term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Slc3a1 solute carrier family 3, member 1 GBrowse link Susceptibility ISS 6 8,385,186 8,419,465 RGD:1600015 RGD
G Slc3a1 solute carrier family 3, member 1 GBrowse link ISS 6 8,385,186 8,419,465 RGD:7240710 OMIM
G Slc7a9 solute carrier family 7 (glycoprotein-associated amino acid transporter light chain, bo,+ system), member 9 GBrowse link ISS 1 87,976,440 87,999,102 RGD:737767 RGD
G Slc7a9 solute carrier family 7 (glycoprotein-associated amino acid transporter light chain, bo,+ system), member 9 GBrowse link ISS 1 87,976,440 87,999,102 RGD:7240710 OMIM
Cytochrome-c Oxidase Deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Cox15 cytochrome c oxidase assembly homolog 15 (yeast) GBrowse link ISS 1 247,077,102 247,093,757 RGD:1598470 RGD
G Lrpprc leucine-rich pentatricopeptide repeat containing GBrowse link ISS 6 8,086,606 8,168,261 RGD:1600676 RGD
D-2-HYDROXYGLUTARIC ACIDURIA 1 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G D2hgdh D-2-hydroxyglutarate dehydrogenase GBrowse link ISS 9 93,100,369 93,119,170 RGD:7240710 OMIM
D-2-HYDROXYGLUTARIC ACIDURIA 2 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Idh2 isocitrate dehydrogenase 2 (NADP+), mitochondrial GBrowse link ISS 1 135,876,052 135,895,373 RGD:7240710 OMIM
D-BIFUNCTIONAL PROTEIN DEFICIENCY term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 GBrowse link ISS 18 45,157,435 45,251,606 RGD:7240710 OMIM
De Vivo disease term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Slc2a1 solute carrier family 2 (facilitated glucose transporter), member 1 GBrowse link ISS 5 139,690,801 139,719,021 RGD:7240710 OMIM
Dementia, familial British term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Itm2b integral membrane protein 2B GBrowse link ISS 15 54,005,134 54,028,036 RGD:7240710 OMIM
Desmosterolosis term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Dhcr24 24-dehydrocholesterol reductase GBrowse link ISS 5 127,637,438 127,662,621 RGD:7240710 OMIM
Diarrhea 3, Secretory Sodium, Congenital term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Spint2 serine peptidase inhibitor, Kunitz type, 2 GBrowse link ISS 1 84,393,845 84,416,299 RGD:7240710 OMIM
Dihydropyrimidinase Deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Dpys dihydropyrimidinase GBrowse link ISS 7 75,368,238 75,446,160 RGD:7240710 OMIM
Dihydropyrimidine Dehydrogenase Deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Dpyd dihydropyrimidine dehydrogenase GBrowse link ISS 2 214,931,901 215,818,809 RGD:7240710 OMIM
Dimethylglycine Dehydrogenase Deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Dmgdh dimethylglycine dehydrogenase GBrowse link ISS 2 23,976,563 24,052,766 RGD:7240710 OMIM
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Por P450 (cytochrome) oxidoreductase GBrowse link ISS 12 22,078,629 22,097,301 RGD:7240710 OMIM
Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Spr sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase) GBrowse link ISS 4 119,365,578 119,369,308 RGD:7240710 OMIM
Ethylmalonic encephalopathy term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ethe1 ethylmalonic encephalopathy 1 GBrowse link ISS 1 79,875,629 79,890,681 RGD:7240710 OMIM
Fabry Disease term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Gla galactosidase, alpha GBrowse link ISS X 122,044,703 122,056,327 RGD:1601350 RGD
G Gla galactosidase, alpha GBrowse link ISS X 122,044,703 122,056,327 RGD:7240710 OMIM
G Il1a interleukin 1 alpha GBrowse link ISS 3 116,913,612 116,924,114 RGD:6907117 RGD
Fanconi Syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Slc17a2 solute carrier family 17 (sodium phosphate), member 2 GBrowse link ISS 17 48,557,119 48,573,741 RGD:7240710 OMIM
G Slc2a2 solute carrier family 2 (facilitated glucose transporter), member 2 GBrowse link ISS 2 116,036,501 116,065,834 RGD:7240710 OMIM
G Slc34a1 solute carrier family 34 (sodium phosphate), member 1 GBrowse link ISS 17 15,262,929 15,277,902 RGD:7242923 RGD
G Slc34a1 solute carrier family 34 (sodium phosphate), member 1 GBrowse link ISS 17 15,262,929 15,277,902 RGD:7240710 OMIM
Fanconi-Bickel Syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Slc2a2 solute carrier family 2 (facilitated glucose transporter), member 2 GBrowse link ISS 2 116,036,501 116,065,834 RGD:7240710 OMIM
Farber Lipogranulomatosis term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Asah1 N-acylsphingosine amidohydrolase (acid ceramidase) 1 GBrowse link ISS 16 54,279,253 54,311,084 RGD:7240710 OMIM
Finnish lethal neonatal metabolic syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Bcs1l BC1 (ubiquinol-cytochrome c reductase) synthesis-like GBrowse link ISS 9 73,939,024 73,943,055 RGD:7240710 OMIM
Fructose Intolerance term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Aldob aldolase B, fructose-bisphosphate GBrowse link ISS 5 66,283,165 66,296,171 RGD:1300369 RGD
G Aldob aldolase B, fructose-bisphosphate GBrowse link Susceptibility ISS 5 66,283,165 66,296,171 RGD:1599063 RGD
G Aldob aldolase B, fructose-bisphosphate GBrowse link ISS 5 66,283,165 66,296,171 RGD:7240710 OMIM
Fructose Metabolism, Inborn Errors term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Fbp1 fructose-1,6-bisphosphatase 1 GBrowse link ISS 17 7,795,717 7,818,041 RGD:7240710 OMIM
Fructose-1,6-Diphosphatase Deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Fbp1 fructose-1,6-bisphosphatase 1 GBrowse link ISS 17 7,795,717 7,818,041 RGD:1601165 RGD
G Fbp1 fructose-1,6-bisphosphatase 1 GBrowse link ISS 17 7,795,717 7,818,041 RGD:7240710 OMIM
Fructosuria term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Khk ketohexokinase GBrowse link ISS 6 25,428,263 25,438,497 RGD:7240710 OMIM
Fucosidosis term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Fuca1 fucosidase, alpha-L- 1, tissue GBrowse link ISS 5 154,703,722 154,720,971 RGD:704404 RGD
G Fuca1 fucosidase, alpha-L- 1, tissue GBrowse link ISS 5 154,703,722 154,720,971 RGD:1598969 RGD
G Fuca1 fucosidase, alpha-L- 1, tissue GBrowse link ISS 5 154,703,722 154,720,971 RGD:7240710 OMIM
Fumaric aciduria term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Fh fumarate hydratase GBrowse link ISS 13 91,329,837 91,355,722 RGD:7240710 OMIM
Galactosemias term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Akr1b1 aldo-keto reductase family 1, member B1 (aldose reductase) GBrowse link IEP 4 61,645,438 61,659,530 RGD:1599728 RGD
G Cryaa crystallin, alpha A IEP RGD:1600994 RGD
G Ddit3 DNA-damage inducible transcript 3 GBrowse link IEP 7 67,247,749 67,252,571 RGD:1599728 RGD
G Gale UDP-galactose-4-epimerase GBrowse link ISS 5 154,745,853 154,750,357 RGD:704404 RGD
G Gale UDP-galactose-4-epimerase GBrowse link ISS 5 154,745,853 154,750,357 RGD:7240710 OMIM
G Galk1 galactokinase 1 GBrowse link ISS 10 106,116,774 106,120,951 RGD:7240710 OMIM
G Galt galactose-1-phosphate uridylyltransferase GBrowse link ISS 5 59,185,418 59,188,642 RGD:704404 RGD
G Galt galactose-1-phosphate uridylyltransferase GBrowse link ISS 5 59,185,418 59,188,642 RGD:7240710 OMIM
Gamma aminobutyric acid transaminase deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Abat 4-aminobutyrate aminotransferase GBrowse link ISS 10 7,040,725 7,137,154 RGD:7240710 OMIM
Gamma-cystathionase deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Cth cystathionase (cystathionine gamma-lyase) GBrowse link ISS 2 256,056,562 256,082,248 RGD:7240710 OMIM
Gangliosidoses, GM2 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Gm2a GM2 ganglioside activator GBrowse link ISS 10 40,502,175 40,514,708 RGD:1598993 RGD
G Snca synuclein, alpha (non A4 component of amyloid precursor) GBrowse link ISS 4 89,613,731 89,722,807 RGD:6480199 RGD
G Sncb synuclein, beta GBrowse link ISS 17 15,907,498 15,915,705 RGD:6480199 RGD
Gangliosidosis, GM1 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Glb1 galactosidase, beta 1 GBrowse link ISS 8 118,791,550 118,864,281 RGD:1598983 RGD
G Glb1 galactosidase, beta 1 GBrowse link ISS 8 118,791,550 118,864,281 RGD:7240710 OMIM
Gaucher Disease term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Chit1 chitinase 1 (chitotriosidase) GBrowse link ISS 13 47,095,240 47,109,367 RGD:7240710 OMIM
G Gba glucosidase, beta, acid ISS RGD:5508431 RGD
G Gba glucosidase, beta, acid ISS RGD:5508423 RGD
G Gba glucosidase, beta, acid ISS RGD:7240710 OMIM
G Il4 interleukin 4 GBrowse link ISS 10 39,074,582 39,080,134 RGD:5128511 RGD
G Mogs mannosyl-oligosaccharide glucosidase GBrowse link ISS 4 117,327,609 117,331,012 RGD:704404 RGD
Gaucher Disease, Atypical, Due To Saposin C Deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Psap prosaposin GBrowse link ISS 20 27,595,048 27,621,574 RGD:7240710 OMIM
Gaucher Disease, Perinatal Lethal term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Gba glucosidase, beta, acid ISS RGD:7240710 OMIM
Gaucher-like disease term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Gba glucosidase, beta, acid ISS RGD:7240710 OMIM
Gilbert Disease term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ugt1a1 UDP glucuronosyltransferase 1 family, polypeptide A1 GBrowse link ISS 9 87,091,241 87,098,362 RGD:7240710 OMIM
Gitelman Syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Slc12a3 solute carrier family 12 (sodium/chloride transporters), member 3 GBrowse link ISS 19 11,070,329 11,109,634 RGD:7240710 OMIM
Glucose/Galactose Malabsorption term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Slc5a1 solute carrier family 5 (sodium/glucose cotransporter), member 1 GBrowse link ISS 14 83,311,232 83,370,657 RGD:7240710 OMIM
Glucosephosphate Dehydrogenase Deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G G6pd glucose-6-phosphate dehydrogenase GBrowse link ISS X 160,186,450 160,192,316 RGD:7240710 OMIM
Glutamate formiminotransferase deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ftcd formiminotransferase cyclodeaminase GBrowse link ISS 20 12,470,291 12,483,807 RGD:7240710 OMIM
Glutamine deficiency, congenital term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Glul glutamate-ammonia ligase ISS RGD:7240710 OMIM
Glutaric aciduria 1 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Gcdh glutaryl-CoA dehydrogenase GBrowse link ISS 19 24,919,470 24,925,943 RGD:7240710 OMIM
Glutathione synthetase deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Gss glutathione synthetase GBrowse link ISS 3 146,057,517 146,087,820 RGD:1599324 RGD
G Gss glutathione synthetase GBrowse link ISS 3 146,057,517 146,087,820 RGD:7240710 OMIM
Glycine N-Methyltransferase Deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Gnmt glycine N-methyltransferase GBrowse link ISS 9 10,127,092 10,130,444 RGD:7240710 OMIM
Glycogen Storage Disease term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Gys2 glycogen synthase 2 GBrowse link ISS 4 179,984,036 180,018,819 RGD:1600764 RGD
G Gys2 glycogen synthase 2 GBrowse link ISS 4 179,984,036 180,018,819 RGD:704404 RGD
G Gys2 glycogen synthase 2 GBrowse link ISS 4 179,984,036 180,018,819 RGD:7240710 OMIM
G Phka1 phosphorylase kinase, alpha 1 GBrowse link ISS X 90,553,527 90,692,073 RGD:1599893 RGD
G Phka2 phosphorylase kinase, alpha 2 GBrowse link ISS X 55,463,178 55,580,783 RGD:1601388 RGD
G Phkg2 phosphorylase kinase, gamma 2 (testis) GBrowse link IAGP 1 186,858,077 186,870,601 RGD:737724 RGD
G Phkg2 phosphorylase kinase, gamma 2 (testis) GBrowse link ISS 1 186,858,077 186,870,601 RGD:737724 RGD
G Prkag2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit GBrowse link ISS 4 5,620,992 5,667,438 RGD:1580717 RGD
G Pygl phosphorylase, glycogen, liver GBrowse link ISS 6 92,298,339 92,341,347 RGD:1599374 RGD
G Slc2a2 solute carrier family 2 (facilitated glucose transporter), member 2 GBrowse link ISS 2 116,036,501 116,065,834 RGD:1624253 RGD
Glycogen Storage Disease 0, Liver term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Gys2 glycogen synthase 2 GBrowse link ISS 4 179,984,036 180,018,819 RGD:7240710 OMIM
Glycogen Storage Disease 0, Muscle term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Gys1 glycogen synthase 1, muscle GBrowse link ISS 1 95,907,458 95,928,150 RGD:7240710 OMIM
Glycogen Storage Disease IB term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Slc37a4 solute carrier family 37 (glucose-6-phosphate transporter), member 4 GBrowse link ISS 8 47,363,896 47,369,981 RGD:7240710 OMIM
Glycogen Storage Disease IC term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Slc37a4 solute carrier family 37 (glucose-6-phosphate transporter), member 4 GBrowse link ISS 8 47,363,896 47,369,981 RGD:7240710 OMIM
GLYCOGEN STORAGE DISEASE IXa1 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Phka2 phosphorylase kinase, alpha 2 GBrowse link ISS X 55,463,178 55,580,783 RGD:7240710 OMIM
Glycogen Storage Disease IXB term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Phkb phosphorylase kinase, beta GBrowse link ISS 19 22,373,355 22,561,509 RGD:7240710 OMIM
Glycogen Storage Disease IXC term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Phkg2 phosphorylase kinase, gamma 2 (testis) GBrowse link ISS 1 186,858,077 186,870,601 RGD:7240710 OMIM
Glycogen Storage Disease of Heart, Lethal Congenital term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Prkag2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit GBrowse link ISS 4 5,620,992 5,667,438 RGD:7240710 OMIM
Glycogen Storage Disease Type I term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G G6pc glucose-6-phosphatase, catalytic subunit GBrowse link ISS 10 90,393,531 90,403,485 RGD:704404 RGD
G G6pc glucose-6-phosphatase, catalytic subunit GBrowse link ISS 10 90,393,531 90,403,485 RGD:7240710 OMIM
G Slc37a4 solute carrier family 37 (glucose-6-phosphate transporter), member 4 GBrowse link TAS 8 47,363,896 47,369,981 RGD:61591 RGD
G Slc37a4 solute carrier family 37 (glucose-6-phosphate transporter), member 4 GBrowse link ISS 8 47,363,896 47,369,981 RGD:1599000 RGD
G Slc37a4 solute carrier family 37 (glucose-6-phosphate transporter), member 4 GBrowse link ISS 8 47,363,896 47,369,981 RGD:704404 RGD
Glycogen Storage Disease Type II term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Gaa glucosidase, alpha, acid ISS RGD:1302856 RGD
G Gaa glucosidase, alpha, acid ISS RGD:7240710 OMIM
Glycogen Storage Disease Type IIb term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Lamp2 lysosomal-associated membrane protein 2 GBrowse link ISS X 6,908,285 6,951,772 RGD:7240710 OMIM
Glycogen Storage Disease Type III term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Agl amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase GBrowse link IEA 2 212,985,676 213,041,451 RGD:1331525 RGD
G Agl amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase GBrowse link ISS 2 212,985,676 213,041,451 RGD:1566516 RGD
G Agl amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase GBrowse link Susceptibility ISS 2 212,985,676 213,041,451 RGD:1601129 RGD
G Agl amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase GBrowse link ISS 2 212,985,676 213,041,451 RGD:7240710 OMIM
Glycogen Storage Disease Type IV term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Gbe1 glucan (1,4-alpha-), branching enzyme 1 GBrowse link ISS 11 8,720,408 8,975,471 RGD:1601279 RGD
G Gbe1 glucan (1,4-alpha-), branching enzyme 1 GBrowse link ISS 11 8,720,408 8,975,471 RGD:7240710 OMIM
Glycogen Storage Disease Type V term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Pygm phosphorylase, glycogen, muscle GBrowse link ISS 1 209,166,701 209,181,588 RGD:1599985 RGD
G Pygm phosphorylase, glycogen, muscle GBrowse link ISS 1 209,166,701 209,181,588 RGD:7240710 OMIM
Glycogen Storage Disease Type VI term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Pygl phosphorylase, glycogen, liver GBrowse link ISS 6 92,298,339 92,341,347 RGD:7240710 OMIM
Glycogen Storage Disease Type VII term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Pfkm phosphofructokinase, muscle GBrowse link ISS 7 136,826,122 136,846,040 RGD:1599108 RGD
G Pfkm phosphofructokinase, muscle GBrowse link ISS 7 136,826,122 136,846,040 RGD:7240710 OMIM
Glycogen Storage Disease Type VIII term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Phka2 phosphorylase kinase, alpha 2 GBrowse link ISS X 55,463,178 55,580,783 RGD:7240710 OMIM
Glycogen Storage Disease XII term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Aldoa aldolase A, fructose-bisphosphate GBrowse link ISS 1 185,970,658 185,974,615 RGD:7240710 OMIM
Glycogen Storage Disease XIII term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Eno3 enolase 3, beta, muscle GBrowse link ISS 10 57,536,965 57,542,317 RGD:7240710 OMIM
Glycogen Storage Disease XIV term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Pgm1 phosphoglucomutase 1 GBrowse link ISS 5 120,595,650 120,655,915 RGD:7240710 OMIM
GLYCOGEN STORAGE DISEASE XV term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Gyg1 glycogenin 1 GBrowse link ISS 2 105,264,657 105,307,070 RGD:7240710 OMIM
Glycogen Storage Disease, Type IXD term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Phka1 phosphorylase kinase, alpha 1 GBrowse link ISS X 90,553,527 90,692,073 RGD:7240710 OMIM
Glycosuria, Renal term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Slc5a2 solute carrier family 5 (sodium/glucose cotransporter), member 2 GBrowse link ISS 1 187,523,230 187,529,351 RGD:1599049 RGD
G Slc5a2 solute carrier family 5 (sodium/glucose cotransporter), member 2 GBrowse link ISS 1 187,523,230 187,529,351 RGD:737731 RGD
Gout term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Adrb3 adrenoceptor beta 3 GBrowse link ISS 16 69,163,620 69,166,384 RGD:5684422 RGD
G Hp haptoglobin GBrowse link ISS 19 39,443,016 39,447,566 RGD:1626362 RGD
Griscelli syndrome type 1 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Myo5a myosin VA GBrowse link ISS 8 79,909,224 80,027,290 RGD:7240710 OMIM
Griscelli syndrome type 2 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Rab27a RAB27A, member RAS oncogene family GBrowse link ISS 8 77,798,830 77,861,090 RGD:7240710 OMIM
Griscelli syndrome type 3 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Mlph melanophilin GBrowse link ISS 9 90,113,308 90,149,114 RGD:7240710 OMIM
Hartnup Disease term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Slc6a19 solute carrier family 6 (neutral amino acid transporter), member 19 GBrowse link Susceptibility ISS 1 30,393,331 30,412,094 RGD:1600035 RGD
G Slc6a19 solute carrier family 6 (neutral amino acid transporter), member 19 GBrowse link ISS 1 30,393,331 30,412,094 RGD:7240710 OMIM
Hawkinsinuria term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Hpd 4-hydroxyphenylpyruvate dioxygenase GBrowse link ISS 12 34,548,320 34,558,371 RGD:7240710 OMIM
Hemochromatosis term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Bmp2 bone morphogenetic protein 2 GBrowse link ISS 3 121,372,692 121,381,236 RGD:7240710 OMIM
G Hamp hepcidin antimicrobial peptide GBrowse link ISS 1 85,978,120 85,980,059 RGD:1599358 RGD
G Hamp hepcidin antimicrobial peptide GBrowse link ISS 1 85,978,120 85,980,059 RGD:704404 RGD
G Hfe hemochromatosis GBrowse link ISS 17 48,469,927 48,478,502 RGD:7207252 RGD
G Hfe hemochromatosis GBrowse link ISS 17 48,469,927 48,478,502 RGD:7240710 OMIM
G Hfe2 hemochromatosis type 2 (juvenile) GBrowse link ISS 2 191,329,644 191,333,525 RGD:1599478 RGD
G Tfr2 transferrin receptor 2 GBrowse link ISS 12 19,638,502 19,655,420 RGD:1599386 RGD
Hemochromatosis, Type 2B term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Hamp hepcidin antimicrobial peptide GBrowse link ISS 1 85,978,120 85,980,059 RGD:7240710 OMIM
Hemochromatosis, type 3 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Tfr2 transferrin receptor 2 GBrowse link ISS 12 19,638,502 19,655,420 RGD:7240710 OMIM
Hemochromatosis, type 4 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Slc40a1 solute carrier family 40 (iron-regulated transporter), member 1 GBrowse link ISS 9 44,977,430 44,995,358 RGD:7240710 OMIM
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Gpi glucose-6-phosphate isomerase GBrowse link ISS 1 86,658,836 86,686,712 RGD:7240710 OMIM
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Hk1 hexokinase 1 ISS RGD:7240710 OMIM
Hepatolenticular Degeneration term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Atp7b ATPase, Cu++ transporting, beta polypeptide GBrowse link IAGP 16 74,607,988 74,680,080 RGD:2292672 RGD
G Atp7b ATPase, Cu++ transporting, beta polypeptide GBrowse link IED 16 74,607,988 74,680,080 RGD:734622 RGD
G Atp7b ATPase, Cu++ transporting, beta polypeptide GBrowse link ISS 16 74,607,988 74,680,080 RGD:7240710 OMIM
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 IED RGD:2307322 RGD
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase GBrowse link IED 2 27,127,504 27,149,580 RGD:2292672 RGD
G Smpd1 sphingomyelin phosphodiesterase 1, acid lysosomal GBrowse link Severity IED 1 163,278,970 163,282,813 RGD:1601345 RGD
Q Hcuc1 Hepatic copper content QTL 1 IAGP RGD:619607 RGD
Q Hcuc2 Hepatic copper content QTL 2 GBrowse link IAGP 16 1 40,096,622 RGD:619607 RGD
Q Hcuc3 Hepatic copper content QTL 3 GBrowse link IAGP 2 217,985,582 238,139,978 RGD:629572 RGD
Q Hcuc4 Hepatic copper content QTL 4 GBrowse link IAGP 10 70,191,595 77,091,834 RGD:629572 RGD
Hermanski-Pudlak Syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ap3b1 adaptor-related protein complex 3, beta 1 subunit GBrowse link ISS 2 24,670,078 24,872,770 RGD:1578409 RGD
G Ccl5 chemokine (C-C motif) ligand 5 GBrowse link ISS 10 71,605,791 71,610,330 RGD:4891476 RGD
G Hps1 Hermansky-Pudlak syndrome 1 homolog (human) GBrowse link ISS 1 248,109,643 248,134,450 RGD:1625056 RGD
G Hps1 Hermansky-Pudlak syndrome 1 homolog (human) GBrowse link ISS 1 248,109,643 248,134,450 RGD:7240710 OMIM
G Hps3 Hermansky-Pudlak syndrome 3 homolog (human) GBrowse link ISS 2 105,135,644 105,177,925 RGD:1599538 RGD
G Hps4 Hermansky-Pudlak syndrome 4 GBrowse link ISS 19 14,326,654 14,355,770 RGD:1599546 RGD
G Hps6 Hermansky-Pudlak syndrome 6 GBrowse link ISS 1 251,226,344 251,228,953 RGD:632833 RGD
S FH IAGP RGD:1300411 RGD
S TM/Kyo tester moriyama rat IAGP RGD:1300411 RGD
Hermansky Pudlak syndrome 2 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ap3b1 adaptor-related protein complex 3, beta 1 subunit GBrowse link ISS 2 24,670,078 24,872,770 RGD:7240710 OMIM
HHH syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Slc25a15 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 GBrowse link ISS 16 74,280,827 74,301,105 RGD:7240710 OMIM
Histidinemia term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Hal histidine ammonia lyase GBrowse link ISS 7 30,520,913 30,551,145 RGD:7240710 OMIM
HMG CoA lyase deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Hmgcl 3-hydroxymethyl-3-methylglutaryl-CoA lyase GBrowse link ISS 5 154,730,232 154,743,974 RGD:7240710 OMIM
Holocarboxylase Synthetase Deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Hlcs holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) GBrowse link ISS 11 34,382,010 34,539,032 RGD:7240710 OMIM
Homocystinuria term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Cbs cystathionine beta synthase GBrowse link ISS 20 10,047,478 10,075,520 RGD:1600622 RGD
G Cbs cystathionine beta synthase GBrowse link ISS 20 10,047,478 10,075,520 RGD:7240710 OMIM
G Fcrls Fc receptor-like S, scavenger receptor GBrowse link ISS 2 179,283,609 179,294,282 RGD:1601421 RGD
G Mthfr methylenetetrahydrofolate reductase (NAD(P)H) GBrowse link ISS 5 165,112,850 165,126,885 RGD:1601421 RGD
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase GBrowse link ISS 17 5,086,219 5,118,086 RGD:5508189 RGD
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Mthfr methylenetetrahydrofolate reductase (NAD(P)H) GBrowse link ISS 5 165,112,850 165,126,885 RGD:7240710 OMIM
Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase GBrowse link ISS 17 5,086,219 5,118,086 RGD:7240710 OMIM
Hutchinson Gilford progeria syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Lmna lamin A/C GBrowse link ISS 2 180,595,724 180,616,354 RGD:7240710 OMIM
Hydroxyacyl-coa dehydrogenase, type 2, deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 GBrowse link ISS X 41,489,343 41,491,788 RGD:7240710 OMIM
Hyperargininemia term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Arg1 arginase, liver GBrowse link Susceptibility ISS 1 20,998,894 21,011,275 RGD:1599208 RGD
G Arg1 arginase, liver GBrowse link ISS 1 20,998,894 21,011,275 RGD:7240710 OMIM
G Arg2 arginase type II GBrowse link ISS 6 101,901,653 101,928,282 RGD:734607 RGD
Hyperbilirubinemia, Hereditary term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Abcc2 ATP-binding cassette, subfamily C (CFTR/MRP), member 2 IED RGD:631914 RGD
Hyperbilirubinemia, Transient Familial Neonatal term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ugt1a1 UDP glucuronosyltransferase 1 family, polypeptide A1 GBrowse link ISS 9 87,091,241 87,098,362 RGD:7240710 OMIM
HYPERCHLORHIDROSIS, ISOLATED term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Car12 carbonic anyhydrase 12 GBrowse link ISS 8 71,017,732 71,070,729 RGD:7240710 OMIM
Hypercholanemia, Familial term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Baat bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) GBrowse link ISS 5 66,245,786 66,254,757 RGD:7240710 OMIM
G Ephx1 epoxide hydrolase 1, microsomal (xenobiotic) GBrowse link ISS 13 96,722,973 96,752,940 RGD:7240710 OMIM
G Tjp2 tight junction protein 2 GBrowse link ISS 1 227,475,386 227,574,457 RGD:7240710 OMIM
HYPERCHOLESTEROLEMIA, FAMILIAL term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Abca1 ATP-binding cassette, subfamily A (ABC1), member 1 GBrowse link ISS 5 70,493,357 70,583,729 RGD:7240710 OMIM
G Apoa2 apolipoprotein A-II GBrowse link ISS 13 87,114,734 87,116,372 RGD:7240710 OMIM
G Ephx2 epoxide hydrolase 2, cytoplasmic GBrowse link ISS 15 45,497,660 45,556,101 RGD:7240710 OMIM
G Fh fumarate hydratase GBrowse link ISS 13 91,329,837 91,355,722 RGD:7240710 OMIM
G Ghr growth hormone receptor GBrowse link ISS 2 52,496,517 52,658,066 RGD:7240710 OMIM
G Itih4 inter-alpha-trypsin inhibitor heavy chain family, member 4 GBrowse link ISS 16 6,319,608 6,334,782 RGD:7240710 OMIM
G Ldlr low density lipoprotein receptor GBrowse link ISS 8 20,824,040 20,846,920 RGD:7240710 OMIM
Hyperglycerolemia term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Gk glycerol kinase GBrowse link ISS X 72,416,872 72,493,296 RGD:7240710 OMIM
Hyperglycinemia, Nonketotic term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Amt aminomethyltransferase Susceptibility ISS RGD:1599106 RGD
G Amt aminomethyltransferase ISS RGD:7240710 OMIM
G Gcsh glycine cleavage system protein H (aminomethyl carrier) GBrowse link ISS 19 47,091,226 47,101,983 RGD:704404 RGD
G Gcsh glycine cleavage system protein H (aminomethyl carrier) GBrowse link ISS 19 47,091,226 47,101,983 RGD:7240710 OMIM
G Gldc glycine dehydrogenase (decarboxylating) GBrowse link ISS 1 233,846,690 233,925,736 RGD:7240710 OMIM
HYPERGLYCINURIA term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Slc36a2 solute carrier family 36 (proton/amino acid symporter), member 2 GBrowse link ISS 10 40,562,983 40,590,958 RGD:7240710 OMIM
G Slc6a19 solute carrier family 6 (neutral amino acid transporter), member 19 GBrowse link ISS 1 30,393,331 30,412,094 RGD:7240710 OMIM
G Slc6a20 solute carrier family 6 (proline IMINO transporter), member 20 GBrowse link ISS 8 128,412,080 128,452,212 RGD:7240710 OMIM
Hyperhomocysteinemia term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ahcy adenosylhomocysteinase GBrowse link IED 3 145,544,834 145,560,058 RGD:1598896 RGD
G Bche butyrylcholinesterase GBrowse link IED 2 164,329,613 164,427,994 RGD:1599454 RGD
G Cbs cystathionine beta synthase GBrowse link IAGP 20 10,047,478 10,075,520 RGD:1600624 RGD
G Cxcl1 chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha) GBrowse link ISS 14 18,690,339 18,692,118 RGD:5135249 RGD
G Cxcl5 chemokine (C-X-C motif) ligand 5 GBrowse link ISS 14 18,825,357 18,826,269 RGD:5135249 RGD
G Ece1 endothelin converting enzyme 1 GBrowse link IPM 5 156,635,656 156,735,783 RGD:4892572 RGD
G Ednra endothelin receptor type A GBrowse link IEP 19 32,042,366 32,108,153 RGD:4892572 RGD
G Fcrls Fc receptor-like S, scavenger receptor GBrowse link ISS 2 179,283,609 179,294,282 RGD:1601421 RGD
G Icam1 intercellular adhesion molecule 1 GBrowse link IEP 8 20,040,177 20,051,939 RGD:4144131 RGD
G Il1b interleukin 1 beta GBrowse link ISS 3 116,964,422 116,970,867 RGD:7175168 RGD
G Mthfr methylenetetrahydrofolate reductase (NAD(P)H) GBrowse link ISS 5 165,112,850 165,126,885 RGD:1601421 RGD
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase GBrowse link ISS 17 68,782,708 68,867,101 RGD:1601425 RGD
G Ngf nerve growth factor (beta polypeptide) GBrowse link IEP 2 197,621,726 197,632,960 RGD:5144149 RGD
G Nppb natriuretic peptide B GBrowse link IEP 5 165,062,348 165,063,650 RGD:1642265 RGD
Hyperlipidemia, Familial Combined term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Add1 adducin 1 (alpha) GBrowse link ISS 14 81,750,430 81,808,919 RGD:1559299 RGD
G Alpl alkaline phosphatase, liver/bone/kidney GBrowse link ISS 5 156,501,739 156,558,727 RGD:1601173 RGD
G Apob apolipoprotein B GBrowse link ISS 6 31,508,060 31,548,083 RGD:1601200 RGD
G Apoc3 apolipoprotein C-III ISS RGD:5685674 RGD
G Apoc3 apolipoprotein C-III No_Association ISS RGD:5685676 RGD
G Apoc3 apolipoprotein C-III ISS RGD:1601225 RGD
G Apoe apolipoprotein E GBrowse link ISS 1 79,003,634 79,006,387 RGD:1601231 RGD
G Apoe apolipoprotein E GBrowse link ISS 1 79,003,634 79,006,387 RGD:1578481 RGD
G Lipc lipase, hepatic GBrowse link ISS 8 75,323,442 75,450,353 RGD:1580512 RGD
G Lpl lipoprotein lipase GBrowse link ISS 16 22,533,105 22,556,905 RGD:7240710 OMIM
G Pparg peroxisome proliferator-activated receptor gamma GBrowse link ISS 4 151,492,220 151,617,331 RGD:1580689 RGD
G Thbd thrombomodulin GBrowse link ISS 3 137,158,955 137,162,607 RGD:1601645 RGD
G Usf1 upstream transcription factor 1 GBrowse link ISS 13 87,336,705 87,344,466 RGD:7240710 OMIM
Hyperlipoproteinemia Type I term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Apoc2 apolipoprotein C-II GBrowse link ISS 1 78,979,034 78,984,002 RGD:7240710 OMIM
G Lpl lipoprotein lipase GBrowse link ISS 16 22,533,105 22,556,905 RGD:1302536 RGD
G Lpl lipoprotein lipase GBrowse link ISS 16 22,533,105 22,556,905 RGD:1580533 RGD
G Lpl lipoprotein lipase GBrowse link ISS 16 22,533,105 22,556,905 RGD:7240710 OMIM
Hyperlipoproteinemia Type II term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Adrb2 adrenoceptor beta 2, surface GBrowse link ISS 18 58,174,958 58,177,000 RGD:1601121 RGD
G Apoa1 apolipoprotein A-I ISS RGD:1601186 RGD
G Apob apolipoprotein B GBrowse link ISS 6 31,508,060 31,548,083 RGD:1626106 RGD
G Apob apolipoprotein B GBrowse link ISS 6 31,508,060 31,548,083 RGD:1580998 RGD
G Apob apolipoprotein B GBrowse link ISS 6 31,508,060 31,548,083 RGD:1578415 RGD
G Apob apolipoprotein B GBrowse link ISS 6 31,508,060 31,548,083 RGD:7240710 OMIM
G Ldlr low density lipoprotein receptor GBrowse link IEA 8 20,824,040 20,846,920 RGD:1331525 RGD
G Ldlr low density lipoprotein receptor GBrowse link ISS 8 20,824,040 20,846,920 RGD:1581824 RGD
G Ldlr low density lipoprotein receptor GBrowse link ISS 8 20,824,040 20,846,920 RGD:5490248 RGD
G Ldlr low density lipoprotein receptor GBrowse link ISS 8 20,824,040 20,846,920 RGD:7240710 OMIM
G Ldlrap1 low density lipoprotein receptor adaptor protein 1 GBrowse link ISS 5 153,504,535 153,527,523 RGD:1626106 RGD
G Mmp9 matrix metallopeptidase 9 GBrowse link ISS 3 155,985,473 155,993,433 RGD:1642031 RGD
G Mttp microsomal triglyceride transfer protein GBrowse link ISS 2 235,613,710 235,654,848 RGD:1625482 RGD
G Pcsk9 proprotein convertase subtilisin/kexin type 9 GBrowse link ISS 5 127,501,476 127,524,289 RGD:1626106 RGD
G Pcsk9 proprotein convertase subtilisin/kexin type 9 GBrowse link ISS 5 127,501,476 127,524,289 RGD:1581001 RGD
G Pcsk9 proprotein convertase subtilisin/kexin type 9 GBrowse link ISS 5 127,501,476 127,524,289 RGD:1580998 RGD
G Pcsk9 proprotein convertase subtilisin/kexin type 9 GBrowse link ISS 5 127,501,476 127,524,289 RGD:1581002 RGD
Hyperlipoproteinemia Type III term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Apoc3 apolipoprotein C-III ISS RGD:1578447 RGD
G Apoe apolipoprotein E GBrowse link IEA 1 79,003,634 79,006,387 RGD:1331525 RGD
G Apoe apolipoprotein E GBrowse link ISS 1 79,003,634 79,006,387 RGD:7240710 OMIM
Hyperlipoproteinemia Type IV term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
S HTG Prague hypertriglyceridemic TAS RGD:1299960 RGD
Hyperlipoproteinemia Type V term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Apoa5 apolipoprotein A-V GBrowse link ISS 8 49,253,538 49,255,777 RGD:7240710 OMIM
Hyperlysinemias term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Aass aminoadipate-semialdehyde synthase GBrowse link ISS 4 49,479,938 49,539,782 RGD:7240710 OMIM
Hyperoxaluria, Primary term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Grhpr glyoxylate reductase/hydroxypyruvate reductase GBrowse link ISS 5 61,536,652 61,545,982 RGD:1599318 RGD
HYPEROXALURIA, PRIMARY, TYPE III term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Hoga1 4-hydroxy-2-oxoglutarate aldolase 1 GBrowse link ISS 1 248,779,289 248,806,403 RGD:7240710 OMIM
Hyperphenylalaninemia, BH4-Deficient, B term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Gch1 GTP cyclohydrolase 1 GBrowse link ISS 15 23,023,996 23,139,794 RGD:7240710 OMIM
HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Qdpr quinoid dihydropteridine reductase GBrowse link ISS 14 70,741,998 70,755,600 RGD:7240710 OMIM
Hyperprolinemia term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Prodh proline dehydrogenase (oxidase) 1 GBrowse link ISS 11 84,905,060 84,922,229 RGD:7240710 OMIM
G Prodh2 proline dehydrogenase (oxidase) 2 GBrowse link ISS 1 85,546,014 85,559,530 RGD:7240710 OMIM
Hyperprolinemia type 2 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Aldh4a1 aldehyde dehydrogenase 4 family, member A1 GBrowse link ISS 5 158,437,691 158,453,827 RGD:7240710 OMIM
Hypoalphalipoproteinemias term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Abca1 ATP-binding cassette, subfamily A (ABC1), member 1 GBrowse link ISS 5 70,493,357 70,583,729 RGD:7240710 OMIM
G Apoa1 apolipoprotein A-I ISS RGD:7240710 OMIM
Hypobetalipoproteinemia, Familial, 2 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Angptl3 angiopoietin-like 3 GBrowse link ISS 5 119,479,669 119,484,358 RGD:7240710 OMIM
Hypobetalipoproteinemias term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Apob apolipoprotein B GBrowse link ISS 6 31,508,060 31,548,083 RGD:1601203 RGD
G Apob apolipoprotein B GBrowse link Susceptibility ISS 6 31,508,060 31,548,083 RGD:1599164 RGD
G Apob apolipoprotein B GBrowse link ISS 6 31,508,060 31,548,083 RGD:7240710 OMIM
G Apoc2 apolipoprotein C-II GBrowse link ISS 1 78,979,034 78,984,002 RGD:1601212 RGD
G Pcsk9 proprotein convertase subtilisin/kexin type 9 GBrowse link ISS 5 127,501,476 127,524,289 RGD:1580999 RGD
Hypokalemic Periodic Paralysis term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Cacna1s calcium channel, voltage-dependent, L type, alpha 1S subunit ISS RGD:704404 RGD
G Cacna1s calcium channel, voltage-dependent, L type, alpha 1S subunit ISS RGD:1300372 RGD
G Kcne3 potassium voltage-gated channel, Isk-related family, member 3 GBrowse link ISS 1 157,558,044 157,565,008 RGD:1600040 RGD
HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Cacna1s calcium channel, voltage-dependent, L type, alpha 1S subunit ISS RGD:7240710 OMIM
Hypokalemic Periodic Paralysis, Type 2 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Scn4a sodium channel, voltage-gated, type IV, alpha subunit GBrowse link ISS 10 95,710,710 95,760,323 RGD:7240710 OMIM
Hypolipoproteinemias term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Abca1 ATP-binding cassette, subfamily A (ABC1), member 1 GBrowse link ISS 5 70,493,357 70,583,729 RGD:1600951 RGD
G Apoa1 apolipoprotein A-I ISS RGD:734583 RGD
G Il1b interleukin 1 beta GBrowse link ISS 3 116,964,422 116,970,867 RGD:1625405 RGD
Hypomagnesemia 1, Intestinal term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Trpm6 transient receptor potential cation channel, subfamily M, member 6 GBrowse link ISS 1 222,363,324 222,502,191 RGD:7240710 OMIM
Hypomagnesemia 2, renal term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Fxyd2 FXYD domain-containing ion transport regulator 2 GBrowse link ISS 8 48,379,075 48,385,553 RGD:7240710 OMIM
HYPOMAGNESEMIA 3, RENAL term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Cldn16 claudin 16 GBrowse link ISS 11 76,313,985 76,334,074 RGD:7240710 OMIM
Hypomagnesemia 4, Renal term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Egf epidermal growth factor GBrowse link ISS 2 227,103,900 227,195,062 RGD:7240710 OMIM
Hypomagnesemia 5, Renal, with Ocular Involvement term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Cldn19 claudin 19 GBrowse link ISS 5 139,838,014 139,842,711 RGD:7240710 OMIM
Hypomagnesemia primary term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Egf epidermal growth factor GBrowse link ISS 2 227,103,900 227,195,062 RGD:6906911 RGD
Hypophosphatasia term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Alpl alkaline phosphatase, liver/bone/kidney GBrowse link Susceptibility ISS 5 156,501,739 156,558,727 RGD:1599076 RGD
Hypophosphatasia, Adult term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Alpl alkaline phosphatase, liver/bone/kidney GBrowse link ISS 5 156,501,739 156,558,727 RGD:7240710 OMIM
Hypophosphatasia, Childhood term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Alpl alkaline phosphatase, liver/bone/kidney GBrowse link ISS 5 156,501,739 156,558,727 RGD:7240710 OMIM
Hypophosphatasia, Infantile term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Alpl alkaline phosphatase, liver/bone/kidney GBrowse link ISS 5 156,501,739 156,558,727 RGD:7240710 OMIM
Hypophosphatemia, Familial term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Clcn5 chloride channel, voltage-sensitive 5 GBrowse link ISS X 27,383,769 27,409,877 RGD:704404 RGD
G Fgf23 fibroblast growth factor 23 GBrowse link TAS 4 163,468,604 163,476,325 RGD:1303356 RGD
G Fgf23 fibroblast growth factor 23 GBrowse link ISS 4 163,468,604 163,476,325 RGD:1598933 RGD
Hypophosphatemic Rickets with Hypercalciuria, Hereditary term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Pth parathyroid hormone GBrowse link ISS 1 171,240,596 171,243,528 RGD:7242924 RGD
G Slc34a1 solute carrier family 34 (sodium phosphate), member 1 GBrowse link ISS 17 15,262,929 15,277,902 RGD:7242925 RGD
G Slc34a1 solute carrier family 34 (sodium phosphate), member 1 GBrowse link ISS 17 15,262,929 15,277,902 RGD:7242924 RGD
G Slc34a3 solute carrier family 34 (sodium phosphate), member 3 GBrowse link ISS 3 3,393,502 3,399,042 RGD:7240710 OMIM
Hypophosphatemic Rickets, Autosomal Dominant term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Fgf23 fibroblast growth factor 23 GBrowse link ISS 4 163,468,604 163,476,325 RGD:7240710 OMIM
Hypophosphatemic Rickets, Autosomal Recessive, 1 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Dmp1 dentin matrix acidic phosphoprotein 1 GBrowse link ISS 14 6,637,127 6,644,100 RGD:7240710 OMIM
Hypophosphatemic Rickets, Autosomal Recessive, 2 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 GBrowse link ISS 1 21,223,678 21,287,411 RGD:6906930 RGD
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 GBrowse link ISS 1 21,223,678 21,287,411 RGD:6906931 RGD
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 GBrowse link ISS 1 21,223,678 21,287,411 RGD:7240710 OMIM
Hypophosphatemic Rickets, X-Linked Dominant term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Bglap bone gamma-carboxyglutamate (gla) protein GBrowse link ISS 2 180,482,313 180,483,290 RGD:7207229 RGD
G Phex phosphate regulating endopeptidase homolog, X-linked GBrowse link ISS X 58,911,144 59,168,857 RGD:7240710 OMIM
Hypophosphatemic Rickets, X-Linked Recessive term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Clcn5 chloride channel, voltage-sensitive 5 GBrowse link ISS X 27,383,769 27,409,877 RGD:7240710 OMIM
Hypouricemia, Renal, 2 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Slc2a9 solute carrier family 2 (facilitated glucose transporter), member 9 GBrowse link ISS 14 77,624,411 77,740,695 RGD:7240710 OMIM
Ichthyosis, X-Linked term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Sts steroid sulfatase (microsomal), isozyme S GBrowse link ISS X 63,915,803 63,923,834 RGD:7240710 OMIM
Iminoglycinuria term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Slc36a2 solute carrier family 36 (proton/amino acid symporter), member 2 GBrowse link ISS 10 40,562,983 40,590,958 RGD:7240710 OMIM
G Slc6a19 solute carrier family 6 (neutral amino acid transporter), member 19 GBrowse link ISS 1 30,393,331 30,412,094 RGD:7240710 OMIM
G Slc6a20 solute carrier family 6 (proline IMINO transporter), member 20 GBrowse link ISS 8 128,412,080 128,452,212 RGD:7240710 OMIM
Isobutyryl-CoA dehydrogenase deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Acad8 acyl-CoA dehydrogenase family, member 8 GBrowse link ISS 8 26,629,337 26,632,170 RGD:7240710 OMIM
Jaundice, Chronic Idiopathic term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Abcc2 ATP-binding cassette, subfamily C (CFTR/MRP), member 2 IED RGD:69812 RGD
G Abcc2 ATP-binding cassette, subfamily C (CFTR/MRP), member 2 Susceptibility ISS RGD:1598616 RGD
G Abcc2 ATP-binding cassette, subfamily C (CFTR/MRP), member 2 ISS RGD:7240710 OMIM
G Abcc3 ATP-binding cassette, subfamily C (CFTR/MRP), member 3 GBrowse link IEP 10 82,986,552 83,030,799 RGD:1598620 RGD
G Abcc3 ATP-binding cassette, subfamily C (CFTR/MRP), member 3 GBrowse link ISS 10 82,986,552 83,030,799 RGD:1300327 RGD
G Slco1a1 solute carrier organic anion transporter family, member 1a1 Model IEP RGD:1598620 RGD
G Slco1a4 solute carrier organic anion transporter family, member 1a4 Model IEP RGD:1598620 RGD
Kanzaki disease term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Naga N-acetyl galactosaminidase, alpha GBrowse link ISS 7 120,706,129 120,714,429 RGD:7240710 OMIM
KELLEY-SEEGMILLER SYNDROME term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Hprt1 hypoxanthine phosphoribosyltransferase 1 GBrowse link ISS X 139,929,647 139,961,616 RGD:7240710 OMIM
Krabbe Disease, Atypical, due to Saposin A Deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Psap prosaposin GBrowse link ISS 20 27,595,048 27,621,574 RGD:7240710 OMIM
L-2-HYDROXYGLUTARIC ACIDURIA term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G L2hgdh L-2-hydroxyglutarate dehydrogenase GBrowse link ISS 6 91,730,715 91,771,825 RGD:7240710 OMIM
Lactase Deficiency, Congenital term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Lct lactase GBrowse link ISS 13 40,990,315 41,043,388 RGD:7240710 OMIM
Lactate dehydrogenase deficiency type A term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ldha lactate dehydrogenase A GBrowse link ISS 1 97,403,077 97,412,547 RGD:7240710 OMIM
Lactose Intolerance, Adult Type term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Mcm6 minichromosome maintenance complex component 6 GBrowse link ISS 13 41,045,677 41,070,868 RGD:7240710 OMIM
Lecithin Acyltransferase Deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Lcat lecithin cholesterol acyltransferase GBrowse link ISS 19 35,781,507 35,784,966 RGD:1581778 RGD
G Lcat lecithin cholesterol acyltransferase GBrowse link ISS 19 35,781,507 35,784,966 RGD:7240710 OMIM
Leigh Disease term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Bcs1l BC1 (ubiquinol-cytochrome c reductase) synthesis-like GBrowse link ISS 9 73,939,024 73,943,055 RGD:7240710 OMIM
G Cox15 cytochrome c oxidase assembly homolog 15 (yeast) GBrowse link ISS 1 247,077,102 247,093,757 RGD:1598467 RGD
G Cox15 cytochrome c oxidase assembly homolog 15 (yeast) GBrowse link ISS 1 247,077,102 247,093,757 RGD:7240710 OMIM
G Dld dihydrolipoamide dehydrogenase GBrowse link ISS 6 49,185,188 49,205,894 RGD:7240710 OMIM
G Lrpprc leucine-rich pentatricopeptide repeat containing GBrowse link ISS 6 8,086,606 8,168,261 RGD:1600674 RGD
G Lrpprc leucine-rich pentatricopeptide repeat containing GBrowse link ISS 6 8,086,606 8,168,261 RGD:1600676 RGD
G Mt-nd3 mitochondrially encoded NADH dehydrogenase 3 GBrowse link ISS MT 9,451 9,798 RGD:5507824 RGD
G Mt-nd5 mitochondrially encoded NADH dehydrogenase 5 GBrowse link ISS MT 11,736 13,565 RGD:5491185 RGD
G Mt-nd6 mitochondrially encoded NADH dehydrogenase 6 GBrowse link ISS MT 13,543 14,061 RGD:6482231 RGD
G Ndufa10 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex 10 GBrowse link ISS 9 91,655,135 91,689,653 RGD:7240710 OMIM
G Ndufa12 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12 GBrowse link ISS 7 31,349,357 31,376,151 RGD:7240710 OMIM
G Ndufa2 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2 GBrowse link ISS 18 29,441,774 29,443,863 RGD:7240710 OMIM
G Ndufa9 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9 GBrowse link ISS 4 163,208,781 163,237,542 RGD:7240710 OMIM
G Ndufaf2 NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 GBrowse link ISS 2 39,269,415 39,382,833 RGD:7240710 OMIM
G Ndufaf6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 GBrowse link ISS 5 24,893,573 24,918,247 RGD:7240710 OMIM
G Ndufs2 NADH dehydrogenase (ubiquinone) Fe-S protein 2 GBrowse link ISS 13 87,124,431 87,137,497 RGD:6482269 RGD
G Ndufs3 NADH dehydrogenase (ubiquinone) Fe-S protein 3 GBrowse link ISS 3 75,256,383 75,263,560 RGD:704404 RGD
G Ndufs3 NADH dehydrogenase (ubiquinone) Fe-S protein 3 GBrowse link ISS 3 75,256,383 75,263,560 RGD:7240710 OMIM
G Ndufs4 NADH dehydrogenase (ubiquinone) Fe-S protein 4 GBrowse link ISS 2 45,839,236 46,479,619 RGD:6484669 RGD
G Ndufs4 NADH dehydrogenase (ubiquinone) Fe-S protein 4 GBrowse link ISS 2 45,839,236 46,479,619 RGD:6484662 RGD
G Ndufs4 NADH dehydrogenase (ubiquinone) Fe-S protein 4 GBrowse link ISS 2 45,839,236 46,479,619 RGD:6484698 RGD
G Ndufs4 NADH dehydrogenase (ubiquinone) Fe-S protein 4 GBrowse link ISS 2 45,839,236 46,479,619 RGD:7240710 OMIM
G Ndufs7 NADH dehydrogenase (ubiquinone) Fe-S protein 7 GBrowse link ISS 7 10,963,916 10,971,188 RGD:704404 RGD
G Ndufs7 NADH dehydrogenase (ubiquinone) Fe-S protein 7 GBrowse link ISS 7 10,963,916 10,971,188 RGD:7240710 OMIM
G Ndufs8 NADH dehydrogenase (ubiquinone) Fe-S protein 8 GBrowse link ISS 1 206,433,596 206,437,478 RGD:704404 RGD
G Ndufs8 NADH dehydrogenase (ubiquinone) Fe-S protein 8 GBrowse link ISS 1 206,433,596 206,437,478 RGD:7240710 OMIM
G Ndufv1 NADH dehydrogenase (ubiquinone) flavoprotein 1 GBrowse link ISS 1 206,590,023 206,595,056 RGD:704404 RGD
G Sdha succinate dehydrogenase complex, subunit A, flavoprotein (Fp) GBrowse link ISS 1 29,739,359 29,764,329 RGD:724604 RGD
G Sdha succinate dehydrogenase complex, subunit A, flavoprotein (Fp) GBrowse link ISS 1 29,739,359 29,764,329 RGD:7240710 OMIM
G Surf1 surfeit 1 GBrowse link ISS 3 5,810,638 5,813,475 RGD:634132 RGD
G Surf1 surfeit 1 GBrowse link ISS 3 5,810,638 5,813,475 RGD:1599193 RGD
G Surf1 surfeit 1 GBrowse link ISS 3 5,810,638 5,813,475 RGD:7240710 OMIM
Leigh syndrome , French Canadian type term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Lrpprc leucine-rich pentatricopeptide repeat containing GBrowse link ISS 6 8,086,606 8,168,261 RGD:7240710 OMIM
Leigh Syndrome, X-Linked term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Pdha1 pyruvate dehydrogenase (lipoamide) alpha 1 GBrowse link ISS X 55,899,491 55,913,319 RGD:7240710 OMIM
Lesch-Nyhan Syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Hprt1 hypoxanthine phosphoribosyltransferase 1 GBrowse link ISS X 139,929,647 139,961,616 RGD:7240710 OMIM
Leukodystrophy, Globoid Cell term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Galc galactosylceramidase GBrowse link ISS 6 122,355,659 122,416,986 RGD:7240710 OMIM
Leukodystrophy, Hypomyelinating, 2 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Gjc2 gap junction protein, gamma 2 GBrowse link ISS 10 45,480,937 45,488,651 RGD:7240710 OMIM
Leukodystrophy, Hypomyelinating, 4 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Hspd1 heat shock protein 1 (chaperonin) GBrowse link ISS 9 53,884,193 53,895,043 RGD:7240710 OMIM
Leukodystrophy, Hypomyelinating, 5 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Fam126a family with sequence similarity 126, member A GBrowse link ISS 4 6,500,425 6,559,978 RGD:7240710 OMIM
Leukodystrophy, Metachromatic term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Arsa arylsulfatase A GBrowse link ISS 7 127,790,208 127,792,734 RGD:1358435 RGD
G Arsa arylsulfatase A GBrowse link ISS 7 127,790,208 127,792,734 RGD:1358434 RGD
G Arsa arylsulfatase A GBrowse link ISS 7 127,790,208 127,792,734 RGD:7240710 OMIM
G Mal mal, T-cell differentiation protein GBrowse link ISS 3 115,166,671 115,190,432 RGD:1358761 RGD
Liddle Syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Scnn1b sodium channel, nonvoltage-gated 1, beta GBrowse link ISS 1 180,682,622 180,748,068 RGD:7240710 OMIM
G Scnn1g sodium channel, nonvoltage-gated 1, gamma GBrowse link ISS 1 180,555,660 180,589,534 RGD:7240710 OMIM
Lipase deficiency combined term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Lmf1 lipase maturation factor 1 GBrowse link ISS 10 14,831,884 14,918,491 RGD:7240710 OMIM
Lipid Metabolism, Inborn Errors term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Abcg5 ATP-binding cassette, subfamily G (WHITE), member 5 GBrowse link ISS 6 8,027,647 8,064,425 RGD:1300331 RGD
G Abcg8 ATP-binding cassette, subfamily G (WHITE), member 8 GBrowse link ISS 6 8,064,631 8,083,271 RGD:631968 RGD
G Apoc2 apolipoprotein C-II GBrowse link No_Association ISS 1 78,979,034 78,984,002 RGD:1601206 RGD
G Cpt1a carnitine palmitoyltransferase 1a, liver GBrowse link ISS 1 205,852,800 205,912,972 RGD:1600732 RGD
G Cpt2 carnitine palmitoyltransferase 2 GBrowse link ISS 5 129,007,685 129,025,501 RGD:1600742 RGD
G Dhcr24 24-dehydrocholesterol reductase GBrowse link ISS 5 127,637,438 127,662,621 RGD:1600897 RGD
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 GBrowse link ISS 18 45,157,435 45,251,606 RGD:1599968 RGD
G Lipc lipase, hepatic GBrowse link ISS 8 75,323,442 75,450,353 RGD:7240710 OMIM
G Lpl lipoprotein lipase GBrowse link ISS 16 22,533,105 22,556,905 RGD:7240710 OMIM
G Mvk mevalonate kinase ISS RGD:1600528 RGD
G Npy5r neuropeptide Y receptor Y5 GBrowse link Susceptibility ISS 16 24,765,175 24,773,132 RGD:1625492 RGD
G Ppara peroxisome proliferator activated receptor alpha GBrowse link ISS 7 123,729,774 123,807,090 RGD:1580230 RGD
G Slc25a20 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 GBrowse link ISS 8 113,715,211 113,737,063 RGD:7240710 OMIM
Lipidoses term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Srebf1 sterol regulatory element binding transcription factor 1 GBrowse link IEP 10 46,461,684 46,483,646 RGD:2308821 RGD
G Srebf2 sterol regulatory element binding transcription factor 2 GBrowse link IEP 7 120,522,511 120,580,212 RGD:2308821 RGD
LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 GBrowse link ISS 3 4,769,863 4,781,045 RGD:7240710 OMIM
LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Bscl2 Berardinelli-Seip congenital lipodystrophy 2 (seipin) GBrowse link ISS 1 211,509,675 211,518,963 RGD:7240710 OMIM
Lipodystrophy, Congenital Generalized, Type 3 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Cav1 caveolin 1, caveolae protein GBrowse link ISS 4 42,956,102 42,989,057 RGD:7240710 OMIM
Lipodystrophy, Congenital Generalized, Type 4 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ptrf polymerase I and transcript release factor GBrowse link ISS 10 89,893,481 89,905,343 RGD:7240710 OMIM
Lipoid congenital adrenal hyperplasia term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Star steroidogenic acute regulatory protein GBrowse link ISS 16 70,642,580 70,647,203 RGD:7240710 OMIM
LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Hadha hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit GBrowse link ISS 6 26,173,798 26,191,433 RGD:7240710 OMIM
Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Clcn5 chloride channel, voltage-sensitive 5 GBrowse link ISS X 27,383,769 27,409,877 RGD:7240710 OMIM
Lysinuric Protein Intolerance term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Slc7a7 solute carrier family 7 (amino acid transporter light chain, y+L system), member 7 GBrowse link ISS 15 32,431,748 32,471,526 RGD:7240710 OMIM
Lysosomal acid lipase deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Lipa lipase A, lysosomal acid, cholesterol esterase GBrowse link ISS 1 238,466,493 238,500,195 RGD:7240710 OMIM
Lysosomal Storage Diseases term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Aga aspartylglucosaminidase GBrowse link Susceptibility ISS 16 41,383,536 41,395,394 RGD:1598773 RGD
G Ctsa cathepsin A GBrowse link ISS 3 155,866,335 155,871,998 RGD:1599169 RGD
Malonic aciduria term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Mlycd malonyl-CoA decarboxylase GBrowse link ISS 19 49,637,193 49,653,016 RGD:7240710 OMIM
Maple Syrup Urine Disease term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Acadm acyl-CoA dehydrogenase, C-4 to C-12 straight chain GBrowse link ISS 2 251,866,645 251,890,729 RGD:1300334 RGD
G Bcat2 branched chain amino acid transaminase 2, mitochondrial GBrowse link ISS 1 96,038,287 96,055,622 RGD:1300291 RGD
G Bckdha branched chain ketoacid dehydrogenase E1, alpha polypeptide GBrowse link ISS 1 80,837,906 80,866,672 RGD:737779 RGD
G Bckdha branched chain ketoacid dehydrogenase E1, alpha polypeptide GBrowse link ISS 1 80,837,906 80,866,672 RGD:7240710 OMIM
G Bckdhb branched chain keto acid dehydrogenase E1, beta polypeptide GBrowse link ISS 8 88,997,979 89,191,017 RGD:1599466 RGD
G Bckdhb branched chain keto acid dehydrogenase E1, beta polypeptide GBrowse link ISS 8 88,997,979 89,191,017 RGD:7240710 OMIM
G Dbt dihydrolipoamide branched chain transacylase E2 GBrowse link ISS 2 212,759,312 212,788,180 RGD:734877 RGD
G Dbt dihydrolipoamide branched chain transacylase E2 GBrowse link ISS 2 212,759,312 212,788,180 RGD:7240710 OMIM
G Dld dihydrolipoamide dehydrogenase GBrowse link ISS 6 49,185,188 49,205,894 RGD:7240710 OMIM
Maternally Inherited Leigh Syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Mt-atp6 mitochondrially encoded ATP synthase 6 GBrowse link ISS MT 7,919 8,599 RGD:5490262 RGD
G Mt-atp6 mitochondrially encoded ATP synthase 6 GBrowse link ISS MT 7,919 8,599 RGD:5490270 RGD
G Mt-atp6 mitochondrially encoded ATP synthase 6 GBrowse link ISS MT 7,919 8,599 RGD:5490291 RGD
G Mt-nd1 mitochondrially encoded NADH dehydrogenase 1 GBrowse link ISS MT 2,740 3,694 RGD:5148009 RGD
Medium chain acyl CoA dehydrogenase deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Acadm acyl-CoA dehydrogenase, C-4 to C-12 straight chain GBrowse link ISS 2 251,866,645 251,890,729 RGD:7240710 OMIM
Megalencephalic leukoencephalopathy with subcortical cysts term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Mlc1 megalencephalic leukoencephalopathy with subcortical cysts 1 GBrowse link ISS 7 127,265,491 127,288,102 RGD:7240710 OMIM
MELAS Syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Mt-co3 mitochondrially encoded cytochrome c oxidase III GBrowse link ISS MT 8,599 9,382 RGD:5491184 RGD
G Mt-nd1 mitochondrially encoded NADH dehydrogenase 1 GBrowse link ISS MT 2,740 3,694 RGD:5490235 RGD
G Mt-nd5 mitochondrially encoded NADH dehydrogenase 5 GBrowse link ISS MT 11,736 13,565 RGD:5491173 RGD
G Mt-nd5 mitochondrially encoded NADH dehydrogenase 5 GBrowse link ISS MT 11,736 13,565 RGD:5491184 RGD
G Mt-nd5 mitochondrially encoded NADH dehydrogenase 5 GBrowse link ISS MT 11,736 13,565 RGD:5507825 RGD
Menkes Kinky Hair Syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Atp7a ATPase, Cu++ transporting, alpha polypeptide GBrowse link ISS X 94,192,540 94,249,776 RGD:734621 RGD
G Atp7a ATPase, Cu++ transporting, alpha polypeptide GBrowse link ISS X 94,192,540 94,249,776 RGD:7240710 OMIM
G Lox lysyl oxidase GBrowse link ISS 18 47,896,674 47,970,829 RGD:1581895 RGD
S ACI/N A X C 9935, Irish TAS RGD:1004 RGD
Metabolism, Inborn Errors term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Acaca acetyl-CoA carboxylase alpha GBrowse link ISS 10 72,483,772 72,677,134 RGD:7240710 OMIM
G Bche butyrylcholinesterase GBrowse link Susceptibility ISS 2 164,329,613 164,427,994 RGD:1601328 RGD
G Bche butyrylcholinesterase GBrowse link ISS 2 164,329,613 164,427,994 RGD:7240710 OMIM
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISS RGD:1600830 RGD
G Cyp7b1 cytochrome P450, family 7, subfamily b, polypeptide 1 GBrowse link ISS 2 103,102,679 103,271,273 RGD:7240710 OMIM
G Ddc dopa decarboxylase (aromatic L-amino acid decarboxylase) GBrowse link ISS 14 92,698,636 92,788,635 RGD:5128849 RGD
G Decr1 2,4-dienoyl CoA reductase 1, mitochondrial GBrowse link ISS 5 30,492,196 30,520,172 RGD:7240710 OMIM
G Dhfr dihydrofolate reductase GBrowse link ISS 2 22,607,093 22,828,487 RGD:7240710 OMIM
G Dio1 deiodinase, iodothyronine, type I GBrowse link ISS 5 128,385,702 128,404,015 RGD:7240710 OMIM
G Esr1 estrogen receptor 1 GBrowse link ISS 1 35,523,680 35,759,891 RGD:1601096 RGD
G Fmo3 flavin containing monooxygenase 3 GBrowse link ISS 13 78,659,513 78,678,524 RGD:1626461 RGD
G Gphn gephyrin GBrowse link ISS 6 100,833,004 101,302,957 RGD:1558665 RGD
G H6pd hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) GBrowse link ISS 5 167,093,827 167,125,298 RGD:1625067 RGD
G Hagh hydroxyacyl glutathione hydrolase GBrowse link ISS 10 14,106,047 14,117,459 RGD:7240710 OMIM
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase GBrowse link ISS 2 27,127,504 27,149,580 RGD:7240710 OMIM
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 GBrowse link ISS 13 109,063,491 109,089,468 RGD:1625067 RGD
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 GBrowse link ISS 19 35,336,342 35,341,585 RGD:1625078 RGD
G Itpa inosine triphosphatase (nucleoside triphosphate pyrophosphatase) GBrowse link ISS 3 118,298,330 118,310,110 RGD:7240710 OMIM
G Klk1 kallikrein 1 GBrowse link ISS 1 94,624,828 94,628,822 RGD:7240710 OMIM
G Ldhb lactate dehydrogenase B GBrowse link ISS 4 180,061,567 180,079,473 RGD:7240710 OMIM
G Lig1 ligase I, DNA, ATP-dependent GBrowse link ISS 1 73,728,892 73,767,429 RGD:1600089 RGD
G Ltc4s leukotriene C4 synthase GBrowse link ISS 10 35,786,877 35,788,838 RGD:7240710 OMIM
G Mmab methylmalonic aciduria (cobalamin deficiency) cblB type ISS RGD:1600420 RGD
G Mocs1 molybdenum cofactor synthesis 1 GBrowse link ISS 9 6,759,531 6,779,930 RGD:1558665 RGD
G Mocs1 molybdenum cofactor synthesis 1 GBrowse link ISS 9 6,759,531 6,779,930 RGD:1624402 RGD
G Mocs1 molybdenum cofactor synthesis 1 GBrowse link ISS 9 6,759,531 6,779,930 RGD:1600439 RGD
G Mocs2 molybdenum cofactor synthesis 2 GBrowse link ISS 2 46,948,321 46,960,060 RGD:1558665 RGD
G Mocs2 molybdenum cofactor synthesis 2 GBrowse link ISS 2 46,948,321 46,960,060 RGD:1556492 RGD
G Mthfd1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase GBrowse link ISS 6 98,849,446 98,916,936 RGD:7240710 OMIM
G Nat2 N-acetyltransferase 2 (arylamine N-acetyltransferase) GBrowse link ISS 16 23,855,555 23,876,531 RGD:7240710 OMIM
G Ndufs1 NADH dehydrogenase (ubiquinone) Fe-S protein 1 GBrowse link ISS 9 61,798,141 61,831,964 RGD:1556706 RGD
G Ndufs2 NADH dehydrogenase (ubiquinone) Fe-S protein 2 GBrowse link ISS 13 87,124,431 87,137,497 RGD:1600573 RGD
G Pla2g4a phospholipase A2, group IVA (cytosolic, calcium-dependent) GBrowse link ISS 13 64,135,729 64,280,815 RGD:7240710 OMIM
G Slc22a5 solute carrier family 22 (organic cation/carnitine transporter), member 5 GBrowse link ISS 10 39,311,729 39,338,718 RGD:1624241 RGD
G Suox sulfite oxidase GBrowse link Susceptibility ISS 7 1,973,471 1,976,040 RGD:1600121 RGD
G Tbx19 T-box 19 GBrowse link ISS 13 80,890,762 80,913,604 RGD:1599334 RGD
G Uqcrb ubiquinol-cytochrome c reductase binding protein GBrowse link ISS 7 67,958,363 67,963,730 RGD:1599707 RGD
Metachromatic Leukodystrophy due to Saposin B Deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Psap prosaposin GBrowse link ISS 20 27,595,048 27,621,574 RGD:7240710 OMIM
Metal Metabolism, Inborn Errors term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Trpm6 transient receptor potential cation channel, subfamily M, member 6 GBrowse link ISS 1 222,363,324 222,502,191 RGD:1599669 RGD
Methionine Adenosyltransferase Deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Mat1a methionine adenosyltransferase I, alpha GBrowse link ISS 16 17,548,582 17,563,989 RGD:1599915 RGD
G Mat1a methionine adenosyltransferase I, alpha GBrowse link ISS 16 17,548,582 17,563,989 RGD:7240710 OMIM
Methylmalonic acidemia with homocystinuria term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Mmachc methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria GBrowse link ISS 5 136,995,231 137,001,367 RGD:7240710 OMIM
Methylmalonic Aciduria and Homocystinuria, CblD Type term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Mmadhc methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria GBrowse link ISS 3 31,224,132 31,242,473 RGD:7240710 OMIM
Methylmalonic Aciduria and Homocystinuria, CblF Type term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Lmbrd1 LMBR1 domain containing 1 GBrowse link ISS 9 23,426,569 23,511,388 RGD:7240710 OMIM
Methylmalonic aciduria cblA type term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Mmaa methylmalonic aciduria (cobalamin deficiency) cblA type GBrowse link ISS 19 30,455,554 30,487,154 RGD:7240710 OMIM
Methylmalonic aciduria cblB type term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Mmab methylmalonic aciduria (cobalamin deficiency) cblB type ISS RGD:7240710 OMIM
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Mut methylmalonyl CoA mutase GBrowse link ISS 9 16,065,495 16,093,956 RGD:7240710 OMIM
METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Cd320 CD320 molecule GBrowse link ISS 7 16,338,136 16,343,892 RGD:7240710 OMIM
Methylmalonyl-CoA Epimerase Deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Mcee methylmalonyl CoA epimerase GBrowse link ISS 1 118,832,889 118,856,087 RGD:7240710 OMIM
Mevalonate Kinase Deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Mvk mevalonate kinase ISS RGD:7240710 OMIM
Microvillus inclusion disease term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Myo5b myosin Vb GBrowse link ISS 18 71,381,068 71,580,824 RGD:7240710 OMIM
MITOCHONDRIAL COMPLEX IV DEFICIENCY term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Coa5 cytochrome C oxidase assembly factor 5 GBrowse link ISS 9 36,365,008 36,375,515 RGD:7240710 OMIM
G Cox14 COX14 cytochrome c oxidase assembly GBrowse link ISS 7 138,451,395 138,469,295 RGD:7240710 OMIM
G Cox6b1 cytochrome c oxidase subunit VIb polypeptide 1 GBrowse link ISS 1 85,669,891 85,677,195 RGD:7240710 OMIM
G Fastkd2 FAST kinase domains 2 GBrowse link ISS 9 62,416,429 62,438,600 RGD:7240710 OMIM
MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH METHYLMALONIC ACIDURIA) term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Sucla2 succinate-CoA ligase, ADP-forming, beta subunit GBrowse link ISS 15 54,214,262 54,267,830 RGD:7240710 OMIM
Molybdenum cofactor deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Gphn gephyrin GBrowse link ISS 6 100,833,004 101,302,957 RGD:7240710 OMIM
G Mocs1 molybdenum cofactor synthesis 1 GBrowse link ISS 9 6,759,531 6,779,930 RGD:7240710 OMIM
G Mocs2 molybdenum cofactor synthesis 2 GBrowse link ISS 2 46,948,321 46,960,060 RGD:7240710 OMIM
Mucolipidoses term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Gnptg N-acetylglucosamine-1-phosphate transferase, gamma subunit GBrowse link ISS 10 14,482,982 14,487,901 RGD:1599045 RGD
G Mcoln1 mucolipin 1 GBrowse link ISS 12 2,640,030 2,653,923 RGD:1599926 RGD
G Neu1 neuraminidase 1 GBrowse link ISS 20 3,999,317 4,003,800 RGD:704404 RGD
MUCOLIPIDOSIS II ALPHA/BETA term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Gnptab N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits GBrowse link ISS 7 25,084,137 25,149,880 RGD:7240710 OMIM
MUCOLIPIDOSIS III ALPHA/BETA term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Gnptab N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits GBrowse link ISS 7 25,084,137 25,149,880 RGD:7240710 OMIM
MUCOLIPIDOSIS IV term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Mcoln1 mucolipin 1 GBrowse link ISS 12 2,640,030 2,653,923 RGD:7240710 OMIM
Mucopolysaccharidoses term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Gusb glucuronidase, beta GBrowse link ISS 12 27,744,409 27,757,755 RGD:704404 RGD
G Hyal1 hyaluronoglucosaminidase 1 GBrowse link ISS 8 112,824,562 112,826,875 RGD:1599811 RGD
Mucopolysaccharidosis I term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Idua iduronidase, alpha-L- ISS RGD:1599894 RGD
G Idua iduronidase, alpha-L- ISS RGD:7240710 OMIM
Mucopolysaccharidosis II term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ids iduronate 2-sulfatase GBrowse link ISS X 156,641,266 156,661,031 RGD:1599819 RGD
G Ids iduronate 2-sulfatase GBrowse link ISS X 156,641,266 156,661,031 RGD:7240710 OMIM
Mucopolysaccharidosis III term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Coasy CoA synthase GBrowse link Susceptibility ISS 10 90,099,616 90,103,476 RGD:1642057 RGD
G Gns glucosamine (N-acetyl)-6-sulfatase GBrowse link ISS 7 60,672,492 60,702,306 RGD:1599248 RGD
G Gns glucosamine (N-acetyl)-6-sulfatase GBrowse link ISS 7 60,672,492 60,702,306 RGD:7240710 OMIM
G Naglu N-acetylglucosaminidase, alpha GBrowse link ISS 10 90,085,836 90,093,926 RGD:7241012 RGD
G Naglu N-acetylglucosaminidase, alpha GBrowse link ISS 10 90,085,836 90,093,926 RGD:7241016 RGD
G Naglu N-acetylglucosaminidase, alpha GBrowse link ISS 10 90,085,836 90,093,926 RGD:7241018 RGD
G Naglu N-acetylglucosaminidase, alpha GBrowse link ISS 10 90,085,836 90,093,926 RGD:7241013 RGD
G Naglu N-acetylglucosaminidase, alpha GBrowse link ISS 10 90,085,836 90,093,926 RGD:7240710 OMIM
Mucopolysaccharidosis IV term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Galns galactosamine (N-acetyl)-6-sulfate sulfatase GBrowse link ISS 19 52,859,282 52,890,422 RGD:704404 RGD
G Galns galactosamine (N-acetyl)-6-sulfate sulfatase GBrowse link ISS 19 52,859,282 52,890,422 RGD:7240710 OMIM
G Glb1 galactosidase, beta 1 GBrowse link ISS 8 118,791,550 118,864,281 RGD:1598984 RGD
G Glb1 galactosidase, beta 1 GBrowse link ISS 8 118,791,550 118,864,281 RGD:7240710 OMIM
MUCOPOLYSACCHARIDOSIS TYPE IX term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Hyal1 hyaluronoglucosaminidase 1 GBrowse link ISS 8 112,824,562 112,826,875 RGD:7240710 OMIM
Mucopolysaccharidosis VI term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Arsb arylsulfatase B GBrowse link Susceptibility IAGP 2 24,067,560 24,223,821 RGD:631738 RGD
G Arsb arylsulfatase B GBrowse link ISS 2 24,067,560 24,223,821 RGD:7240710 OMIM
Mucopolysaccharidosis VII term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Gusb glucuronidase, beta GBrowse link ISS 12 27,744,409 27,757,755 RGD:7240710 OMIM
Multiple Acyl Coenzyme A Dehydrogenase Deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Etfa electron-transfer-flavoprotein, alpha polypeptide GBrowse link ISS 8 59,013,798 59,072,013 RGD:7240710 OMIM
G Etfb electron-transfer-flavoprotein, beta polypeptide GBrowse link ISS 1 93,820,124 93,834,288 RGD:7240710 OMIM
G