Human | MMAB | 326625 | methylmalonic aciduria (cobalamin deficiency) cblB type | |
Human | MMAA | 166785 | methylmalonic aciduria (cobalamin deficiency) cblA type | |
Human | NAGS | 162417 | N-acetylglutamate synthase | |
Human | NDUFAF2 | 91942 | NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 | |
Human | C20orf7 | 79133 | | |
Human | MCCC1 | 56922 | methylcrotonoyl-CoA carboxylase 1 (alpha) | |
Human | MRPS16 | 51021 | mitochondrial ribosomal protein S16 | |
Human | NDUFAF4 | 29078 | NADH dehydrogenase (ubiquinone) complex I, assembly factor 4 | |
Human | MMADHC | 27249 | methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria | |
Human | MMACHC | 25974 | methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria | |
Human | EIF2B5 | 8893 | eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa | |
Human | EIF2B2 | 8892 | eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa | |
Human | EIF2B3 | 8891 | eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa | |
Human | EIF2B4 | 8890 | eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa | |
Human | PAX8 | 7849 | paired box 8 | |
Human | SLC22A5 | 6584 | solute carrier family 22 (organic cation/carnitine transporter), member 5 | |
Human | SLC5A5 | 6528 | solute carrier family 5 (sodium/iodide cotransporter), member 5 | |
Human | SLC2A1 | 6513 | solute carrier family 2 (facilitated glucose transporter), member 1 | |
Human | PDHA1 | 5160 | pyruvate dehydrogenase (lipoamide) alpha 1 | |
Human | PCCB | 5096 | propionyl CoA carboxylase, beta polypeptide | |
Human | PCCA | 5095 | propionyl CoA carboxylase, alpha polypeptide | |
Human | OTC | 5009 | ornithine carbamoyltransferase | |
Human | NDUFS6 | 4726 | NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase) | |
Human | NDUFS4 | 4724 | NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase) | |
Human | NDUFV1 | 4723 | NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa | |