Human | MMAB | 326625 | methylmalonic aciduria (cobalamin deficiency) cblB type | |
Human | TSEN54 | 283989 | TSEN54 tRNA splicing endonuclease subunit | |
Human | MMAA | 166785 | methylmalonic aciduria (cobalamin deficiency) cblA type | |
Human | NDUFAF2 | 91942 | NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 | |
Human | C20orf7 | 79133 | | |
Human | WNK1 | 65125 | WNK lysine deficient protein kinase 1 | |
Human | C10orf2 | 56652 | chromosome 10 open reading frame 2 | |
Human | CHD7 | 55636 | chromodomain helicase DNA binding protein 7 | |
Human | MRPS16 | 51021 | mitochondrial ribosomal protein S16 | |
Human | PSAT1 | 29968 | phosphoserine aminotransferase 1 | |
Human | NDUFAF4 | 29078 | NADH dehydrogenase (ubiquinone) complex I, assembly factor 4 | |
Human | UQCRQ | 27089 | ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa | |
Human | MMACHC | 25974 | methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria | |
Human | TSFM | 10102 | Ts translation elongation factor, mitochondrial | |
Human | SEMA3E | 9723 | sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E | |
Human | ST3GAL5 | 8869 | ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | |
Human | SUCLA2 | 8803 | succinate-CoA ligase, ADP-forming, beta subunit | |
Human | COLQ | 8292 | collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase | Poor feeding due to muscle weakness |
Human | PAX8 | 7849 | paired box 8 | |
Human | UQCRB | 7381 | ubiquinol-cytochrome c reductase binding protein | |
Human | TK2 | 7084 | thymidine kinase 2, mitochondrial | |
Human | SLC16A2 | 6567 | solute carrier family 16, member 2 (thyroid hormone transporter) | |
Human | SLC6A8 | 6535 | solute carrier family 6 (neurotransmitter transporter), member 8 | |
Human | RAPSN | 5913 | receptor-associated protein of the synapse | |
Human | MAP2K2 | 5605 | mitogen-activated protein kinase kinase 2 | |