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 | NDUFAF4 | 29078 | NADH dehydrogenase (ubiquinone) complex I, assembly factor 4 | |
Human | AIFM1 | 9131 | apoptosis-inducing factor, mitochondrion-associated, 1 | INFERRED, Score=800, UMLKSK CUI: C0009421 |
Human | SLC7A7 | 9056 | solute carrier family 7 (amino acid transporter light chain, y+L system), member 7 | Coma may occur after force feeding of high protein diet |
Human | KYNU | 8942 | kynureninase | |
Human | TNNT2 | 7139 | troponin T type 2 (cardiac) | INFERRED, Score=800, UMLKSK CUI: C0009421 |
Human | TKT | 7086 | transketolase | Stupor, coma, death (if untreated) |
Human | ABCC8 | 6833 | ATP-binding cassette, sub-family C (CFTR/MRP), member 8 | |
Human | SLC22A5 | 6584 | solute carrier family 22 (organic cation/carnitine transporter), member 5 | |
Human | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma | INFERRED, Score=800, UMLKSK CUI: C0009421 |
Human | PCCB | 5096 | propionyl CoA carboxylase, beta polypeptide | |
Human | PCCA | 5095 | propionyl CoA carboxylase, alpha polypeptide | |
Human | OTC | 5009 | ornithine carbamoyltransferase | |
Human | NTRK3 | 4916 | neurotrophic tyrosine kinase, receptor, type 3 | trkB mRNA was also transiently increased in the dentate gyrus following cerebral ischemia and hypoglycemic coma; these treatments had no effect on trk and trkC mRNAs. |
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 | |
Human | NDUFS2 | 4720 | NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase) | |
Human | NDUFS1 | 4719 | NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) | |
Human | NDUFA1 | 4694 | NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa | |