Human | NDUFS7 | 374291 | NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) | |
Human | MMAB | 326625 | methylmalonic aciduria (cobalamin deficiency) cblB type | |
Human | UBR1 | 197131 | ubiquitin protein ligase E3 component n-recognin 1 | |
Human | MMAA | 166785 | methylmalonic aciduria (cobalamin deficiency) cblA type | |
Human | NAGS | 162417 | N-acetylglutamate synthase | |
Human | SLC34A3 | 142680 | solute carrier family 34 (type II sodium/phosphate contransporter), member 3 | |
Human | C8orf38 | 137682 | | |
Human | CYP2R1 | 120227 | cytochrome P450, family 2, subfamily R, polypeptide 1 | |
Human | ANTXR2 | 118429 | anthrax toxin receptor 2 | |
Human | NDUFAF2 | 91942 | NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 | |
Human | HSD3B7 | 80270 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | |
Human | C20orf7 | 79133 | | |
Human | DCLRE1C | 64421 | DNA cross-link repair 1C | |
Human | SEPN1 | 57190 | selenoprotein N, 1 | |
Human | MCCC1 | 56922 | methylcrotonoyl-CoA carboxylase 1 (alpha) | |
Human | C10orf2 | 56652 | chromosome 10 open reading frame 2 | |
Human | PEX26 | 55670 | peroxisomal biogenesis factor 26 | |
Human | SLC39A4 | 55630 | solute carrier family 39 (zinc transporter), member 4 | |
Human | PNPO | 55163 | pyridoxamine 5'-phosphate oxidase | |
Human | SBDS | 51119 | Shwachman-Bodian-Diamond syndrome | |
Human | NDUFAF4 | 29078 | NADH dehydrogenase (ubiquinone) complex I, assembly factor 4 | |
Human | OSTM1 | 28962 | osteopetrosis associated transmembrane protein 1 | |
Human | UQCRQ | 27089 | ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa | |
Human | SLC17A5 | 26503 | solute carrier family 17 (acidic sugar transporter), member 5 | |
Human | MMACHC | 25974 | methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria | |