| | | also see: inborn errors amino acid metabolism, hepatic porphyrias, glucosephosphate dehydrogenase deficiency, cytochrome c oxidase deficiency, inborn errors renal tubular transport, inborn genetic diseases, familial amyloidosis, inborn amino acid transport disorders, inborn errors carbohydrate metabolism, metabolic diseases |
| synonym: inborn metabolism errors |
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| Top genes for inborn errors metabolism : |
| ABAT human also called: 4aminobutyrate aminotransferase, gabaat, gabat, gaba aminotransferase, abat, npd009, gaba transferase, gamma aminon butyrate transaminase publications |
| ACAT1 human also called: acat, mat, thil, acetoacetyl coenzyme a thiolase, acetyl coenzyme a acetyltransferase 1, acat1 publications |
| APOB human also called: apob 100, fldb, apolipoprotein b, apob48, apolipoprotein b48, apob publications |
| ARSF human also called: arylsulfatase f, asf, arsf publications |
| ATIC human also called: purh, aicarft impchase, aicar, impchase, atic, 5aminoimidazole4 carboxamide ribonucleotide formyltransferase imp cyclohydrolase, aicarft publications |
| BCHE human also called: bche, butyrylcholinesterase, che1 publications |
| BOLL human also called: boule, bol drosophila boule homolog like, boll publications |
| Btd mouse also called: btd, biotinidase publications |
| CA2 human also called: carbonic anhydrase ii ca ii, carbonic dehydratase, carbonate dehydratase ii, caii, carbonic anhydrase b, ca ii, ca2, carbonic anhydrase ii publications |
| COMMD1 human also called: mgc27155, chromosome 2 open reading frame 5 murr1, c2orf5, copper metabolism gene murr1, commd1, murr1 publications |
| COMMD5 human also called: mgc72046, hypertension related calcium regulated, ht002, hypertension related calcium regulated gene, hcarg, commd5 publications |
| CPT2 human also called: cpt1, cpt2, carnitine palmitoyltransferase ii, cptase publications |
| CYP11B2 human also called: cyp11bl, cytochrome p450 subfamily xib polypeptide 2, cpn2, steroid 18hydroxylase aldosterone synthase p450c18 p450aldo, aldos, steroid 11beta monooxygenase, steroid 18hydroxylase, p450c18, cyp11b, cyp11b2, cytochrome p450 subfamily xib steroid 11beta hydroxylase polypeptide 2, aldosterone synthase, steroid 11beta 18hydroxylase, p450aldo publications |
| CYP17A1 human also called: p450c17, steroid 17alpha hydroxylase 17 20 lyase, steroid 17alpha monooxygenase, cytochrome p450 xviia1, cpt7, cytochrome p450 family 17, cyp17, cyp17a1, s17ah, cytochrome p450 subfamily xvii steroid 17alpha hydroxylase adrenal hyperplasia publications |
| CYP19A1 human also called: flavoprotein linked monooxygenase, aro, cpv1, cytochrome p450 family 19, p450arom, aromatase, cytochrome p450 subfamily xix aromatization of androgens, aro1, cyp19, cyp19a1, microsomal monooxygenase, estrogen synthetase, mgc104309, cyar publications |
| CYP7B1 human also called: cytochrome p450 family 7 subfamily b polypeptide 1, cytochrome p450 subfamily viib oxysterol 7 alpha hydroxylase polypeptide 1, cp7b, oxysterol 7alpha hydroxylase, cyp7b1 publications |
| Car2 mouse also called: ai131712, lvtw5, caii, ca ii, carbonic anhydrase 2, ltw5, car2 publications |
| Commd5 rat also called: hypertension related calcium regulated, hypertension related calcium regulated gene, hcarg, commd5 publications |
| DDC human also called: aadc, ddc, aromatic lamino acid decarboxylase, dopa decarboxylase aromatic lamino acid decarboxylase publications |
| DMGDH human also called: dmgdhd, me2glydh, dmgdh, dimethylglycine dehydrogenase publications |
| ETFA human also called: ema, electron transfer flavoprotein alpha polypeptide, ga2, madd, electron transfer flavoprotein alpha subunit, etfa, electron transferring flavoprotein alpha polypeptide glutaric aciduria ii publications |
| ETFB human also called: electron transferring flavoprotein beta polypeptide, etfb, electron transfer flavoprotein beta polypeptide, madd, fp585, electron transfer flavoprotein beta subunit publications |
| ETFDH human also called: madd, etf ubiquinone oxidoreductase, etfdh, etfqo, electron transfer flavoprotein ubiquinone oxidoreductase, electron transferring flavoprotein dehydrogenase publications |
| Edg4 mouse also called: lpa2, ipa2, edg4, endothelial differentiation lysophosphatidic acid gprotein coupled receptor 4 publications |
| FGB human also called: mgc120405, mgc104327, fibrinogen beta chain, fibrinogen b beta polypeptide, fibrinogen beta chain preproprotein, fgb publications |
| FMO3 human also called: dj127d3 1, flavin containing monooxygenase3, fmoii, mgc34400, flavin containing monooxygenase 3, fmo3 publications |
| G6PD human also called: glucose6 phosphate dehydrogenase, g6pd, g6pd1, glucose6 phosphate dehydrogenase g6pd publications |
| GH1 human also called: pituitary growth hormone, hghn, ghn, growth hormone 1, gh1 publications |
| GK human also called: glycerol kinase, gkd publications |
| GLDC human also called: glycine dehydrogenase decarboxylating glycine decarboxylase glycine cleavage system protein p, gldc, gcsp, gce, glycine decarboxylase pprotein, hygn1, nkh, otthump00000044451 publications |
| GNE human also called: inclusion body myopathy 2 autosomal recessive, dmrv, udpn acetylglucosamine2 epimerase nacetylmannosamine kinase, gne, ibm2, glcne, myopathy distal with rimmed vacuoles, uae1, nacylmannosamine kinase publications |
| Gdf5 mouse also called: gdf5, brachypodism, cdmp1, growth differentiation factor 5, cartilage derived morphogenetic protein1 publications |
| HESX1 human also called: rpx, hesx1, homeo box expressed in es cells 1 publications |
| HNF4A human also called: hepatic nuclear factor 4 alpha, hnf4a8, nr2a21, flj39654, mody1, mody, hnf4a, hnf4a7, nr2a1, hnf4 alpha, transcription factor14, tcf14, hnf4, tcf, hnf4a9, hepatocyte nuclear factor 4 alpha publications |
| IL12RB1 human also called: il12r beta1, mgc34454, interleukin12 receptor beta1 chain, interleukin 12 receptor beta 1, il12rb, il12 receptor beta component, il12rb1 publications |
| L1cam mouse also called: ncaml1, l1cam, cd171, l1 cell adhesion molecule publications |
| Large mouse also called: froggy, myodystrophy, myd, gyltl1a, like glycosyltransferase, mkiaa0609, large publications |
| MC4R human also called: mc4r, mgc126851, melanocortin 4 receptor publications |
| MTR human also called: mtr, 5methyltetrahydrofolate homocysteine methyltransferase, 5methyltetrahydrofolate homocysteine methyltransferase 1 publications |
| MUT human also called: mcm, methylmalonyl coenzyme a mutase, otthump00000039926, mut publications |
| MVK human also called: mvlk, mvk, mevalonate kinase, lh receptor mrna binding protein, lrbp publications |
| NDUFS4 human also called: aqdq, nadh dehydrogenase ubiquinone fes protein 4 18kd nadh coenzyme q reductase, nadh dehydrogenase ubiquinone fes protein 4 18kd nadh coenzyme q, ndufs4, mitochondrial respiratory chain complex i 18kd subunit, nadh dehydrogenase ubiquinone fes protein 4 18kda nadh coenzyme q reductase publications |
| Nmbr mouse also called: neuromedin b receptor, nmbr publications |
| Npc1 mouse also called: npc1, c85354, d18ertd139e, a430089e03rik, lcsd, spm, nmf164, niemann pick type c1, sphingomyelinosis, d18ertd723e publications |
| Oat mouse also called: ai194874, oat, ornithine aminotransferase publications |
| Otc mouse also called: otc, ornithine transcarbamylase, sparse fur, spf, ai265390 publications |
| PCCA human also called: propanoyl coa carbon dioxide ligase alpha subunit, pcca, propionyl coenzyme a carboxylase alpha polypeptide, pcca complementation group, propionyl coa carboxylase alpha chain mitochondrial, pccase alpha subunit publications |
| PCCB human also called: dkfzp451e113, propionyl coenzyme a carboxylase beta polypeptide, pccb publications |
| PPGB human also called: gsl, beta galactosidase protective, glb2, ctsa, ppgb, ppca, ngbe, beta galactosidase 2, protective protein for beta galactosidase, protective protein for beta galactosidase cathepsin a publications |
| PROP1 human also called: prophet of pit1 paired like homeodomain transcription factor, prop1 publications |
| Pcca mouse also called: pcca, c79630, propionyl coenzyme a carboxylase alpha polypeptide, propionyl coa carboxylase alpha publications |
| RPIA human also called: rpi, ribose 5phosphate isomerase a ribose 5phosphate epimerase, rpia publications |
| SERPINA6 human also called: serine or cysteine proteinase inhibitor clade a alpha1 antiproteinase antitrypsin member 6, serpina6, corticosteroid binding globulin, transcortin, cbg publications |
| SFTPB human also called: pulmonary surfactant associated protein b 18kd, sftb3, spb, sftp3, surfactant pulmonary associated protein b, sftpb, pspb publications |
| SLC6A8 human also called: mgc87396, ct1, solute carrier family 6 neurotransmitter transporter creatine member 8, crtr, slc6a8 publications |
| Slc4a2 rat also called: solute carrier family 4 member 2 anion exchange protein 2, anion exchanger, aep2, slc4a2, ae2, solute carrier family 4 member 2 publications |
| TALDO1 human also called: tal, dihydroxyacetone transferase, taldo1, glycerone transferase, talh, taldor, transaldolase 1 publications |
| TNXB human also called: tenascin xb1, tnx, hexabrachion like, tnxb, xbs, tnxbs, otthump00000062664, tnxb2, hxbl, tenascin xb, tnxb1, tenascinx, tenascin xb2, tenx publications |
| TPO human also called: thyroperoxidase, thyroid microsomal antigen, tpx, msa, thyroid peroxidase, tpo publications |
| TRPM6 human also called: hsh, hmgx, homg, chak2, hypomagnesemia secondary hypocalcemia, trpm6, transient receptor potential cation channel subfamily m member 6 publications |
| XPNPEP1 human also called: xprolyl aminopeptidase aminopeptidase p 1 soluble samp xpnpep xpnpepl, xpnpep, xprolyl aminopeptidase aminopeptidase p like, xpnpepl1, otthump00000058856, samp, xpnpep1, xpnpepl, xprolyl aminopeptidase aminopeptidase p 1 soluble publications |
| Top webpages for inborn errors metabolism: more are being identified and will be added. |
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