ONTOLOGY REPORT - ANNOTATIONS

Term:Carbohydrate Metabolism, Inborn Errors
go back to main search page
Accession:RDO:0001064 term browser browse the term
Synonyms:exact_synonym: Carbohydrate Metabolism, Inborn Error
 primary_id: MESH:D002239

  • Rat
  • Mouse
  • Human
  • All
  • show annotations for term's descendants
  •     Sort by:
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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 Carboxylase Deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Cycs cytochrome c, somatic GBrowse link ISS 4 78,825,878 78,827,978 RGD:704404 RGD
G Cycs cytochrome c, somatic GBrowse link ISS 4 78,825,878 78,827,978 RGD:1302549 RGD
Neuraminidase 1 deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Neu1 neuraminidase 1 GBrowse link ISS 20 3,999,317 4,003,800 RGD:7240710 OMIM
Pentosuria term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Dcxr dicarbonyl L-xylulose reductase ISS RGD:7240710 OMIM
Phosphoenolpyruvate carboxykinase 2 deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Pck2 phosphoenolpyruvate carboxykinase 2 (mitochondrial) GBrowse link ISS 15 33,671,834 33,680,613 RGD:7240710 OMIM
Phosphoenolpyruvate carboxykinase deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Pck1 phosphoenolpyruvate carboxykinase 1 (soluble) GBrowse link ISS 3 164,012,410 164,018,359 RGD:7240710 OMIM
Phosphoglycerate Dehydrogenase Deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Phgdh phosphoglycerate dehydrogenase GBrowse link ISS 2 193,147,943 193,177,137 RGD:7240710 OMIM
Primary hyperoxaluria type 1 term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Agxt alanine-glyoxylate aminotransferase GBrowse link ISS 9 92,412,128 92,422,075 RGD:7240710 OMIM
Primary hyperoxaluria type 2 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:7240710 OMIM
Pyruvate Carboxylase Deficiency Disease term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Pc pyruvate carboxylase GBrowse link ISS 1 207,112,853 207,212,737 RGD:1601549 RGD
G Pc pyruvate carboxylase GBrowse link ISS 1 207,112,853 207,212,737 RGD:737741 RGD
G Pc pyruvate carboxylase GBrowse link ISS 1 207,112,853 207,212,737 RGD:7240710 OMIM
Pyruvate Dehydrogenase Complex Deficiency 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:704409 RGD
G Acadsb acyl-CoA dehydrogenase, short/branched chain GBrowse link ISS 1 190,987,657 191,026,275 RGD:704409 RGD
G Acadvl acyl-CoA dehydrogenase, very long chain GBrowse link ISS 10 56,856,233 56,861,380 RGD:704409 RGD
G Acat1 acetyl-CoA acetyltransferase 1 GBrowse link ISS 8 57,044,478 57,072,970 RGD:704409 RGD
G Pdha1 pyruvate dehydrogenase (lipoamide) alpha 1 GBrowse link ISS X 55,899,491 55,913,319 RGD:731230 RGD
G Pdha1 pyruvate dehydrogenase (lipoamide) alpha 1 GBrowse link ISS X 55,899,491 55,913,319 RGD:7240710 OMIM
G Pdhb pyruvate dehydrogenase (lipoamide) beta GBrowse link ISS 15 18,737,449 18,743,391 RGD:1599115 RGD
G Pdhb pyruvate dehydrogenase (lipoamide) beta GBrowse link ISS 15 18,737,449 18,743,391 RGD:7240710 OMIM
Pyruvate Dehydrogenase E2 Deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Dlat dihydrolipoamide S-acetyltransferase GBrowse link ISS 8 53,989,491 54,014,779 RGD:7240710 OMIM
Pyruvate Dehydrogenase E3-Binding Protein Deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Pdx1 pancreatic and duodenal homeobox 1 ISS RGD:7240710 OMIM
Pyruvate Kinase Deficiency of Red Cells term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Pklr pyruvate kinase, liver and RBC GBrowse link ISS 2 181,214,853 181,223,505 RGD:7240710 OMIM
Ribose 5-Phosphate Isomerase Deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Rpia ribose 5-phosphate isomerase A GBrowse link ISS 4 103,934,938 103,960,574 RGD:7240710 OMIM
Sucrase-isomaltase deficiency, congenital term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Si sucrase-isomaltase (alpha-glucosidase) GBrowse link ISS 2 163,520,975 163,601,280 RGD:7240710 OMIM
Transaldolase Deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Taldo1 transaldolase 1 GBrowse link ISS 1 201,582,856 201,593,187 RGD:7240710 OMIM
Trehalase Deficiency term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Treh trehalase (brush-border membrane glycoprotein) GBrowse link ISS 8 47,631,777 47,645,166 RGD:7240710 OMIM
Term paths to the root
Path 1
Term Annotations click to browse term
  Diseases 30466
    Congenital, Hereditary, and Neonatal Diseases and Abnormalities 3906
      Genetic Diseases, Inborn 2876
        Metabolism, Inborn Errors 1001
          Carbohydrate Metabolism, Inborn Errors 203
            Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome 0
            Congenital Disorders of Glycosylation + 28
            D-glycericacidemia 0
            De Vivo disease 1
            Fructose Metabolism, Inborn Errors + 7
            Fructose and Galactose Intolerance 0
            Fucosidosis 3
            Galactosemias 8
            Glucose/Galactose Malabsorption 1
            Glucosephosphate Dehydrogenase Deficiency + 1
            Glycogen Storage Disease + 44
            Hyperglycerolemia 1
            Hyperoxaluria, Primary + 4
            Hyperproglucagonemia 0
            Lactase Deficiency, Congenital 1
            Lactose Intolerance + 1
            Mannosidase Deficiency Diseases + 2
            Mucolipidoses + 8
            Mucopolysaccharidoses + 22
            Multiple Carboxylase Deficiency + 4
            Myopathy with Storage of Glycoproteins and Glycosaminoglycans 0
            Pentosuria 1
            Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial 0
            Phosphoenolpyruvate carboxykinase deficiency 1
            Phosphoglycerate Dehydrogenase Deficiency 1
            Polysaccharide, Storage of Unusual 0
            Pyruvate Metabolism, Inborn Errors + 53
            Ribose 5-Phosphate Isomerase Deficiency 1
            Sucrase-isomaltase deficiency, congenital 1
            Transaldolase Deficiency 1
            Trehalase Deficiency 1
            Triosephosphate Isomerase Deficiency 0
            Xylosidase Deficiency 0
paths to the root

Contact Us |  About Us |  Jobs at RGD