Human | NDUFS7 | 374291 | NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) | INFERRED, Score=800, UMLKSK CUI: C0001122 |
Human | MMAB | 326625 | methylmalonic aciduria (cobalamin deficiency) cblB type | INFERRED, Score=800, UMLKSK CUI: C0001122 |
Human | NEWENTRY | 192343 | Record to support submission of GeneRIFs for a gene not in Gene (human; man). | INFERRED, Score=800, UMLKSK CUI: C0001122 |
Human | MMAA | 166785 | methylmalonic aciduria (cobalamin deficiency) cblA type | INFERRED, Score=800, UMLKSK CUI: C0001122 |
Human | C8orf38 | 137682 | | INFERRED, Score=800, UMLKSK CUI: C0001122 |
Human | NDUFAF2 | 91942 | NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 | INFERRED, Score=800, UMLKSK CUI: C0001122 |
Human | PUS1 | 80324 | pseudouridylate synthase 1 | INFERRED, Score=800, UMLKSK CUI: C0001122 |
Human | C20orf7 | 79133 | | INFERRED, Score=800, UMLKSK CUI: C0001122 |
Human | C10orf2 | 56652 | chromosome 10 open reading frame 2 | INFERRED, Score=800, UMLKSK CUI: C0001122 |
Human | PDP1 | 54704 | pyruvate dehyrogenase phosphatase catalytic subunit 1 | INFERRED, Score=800, UMLKSK CUI: C0001122 |
Human | MRPS16 | 51021 | mitochondrial ribosomal protein S16 | INFERRED, Score=800, UMLKSK CUI: C0001122 |
Human | IGK@ | 50802 | | A Bence Jones V kappa l light chain monoclonal antibody fragment is reported that is responsible for myeloma-associated proximal tubulopathy with increased phosphaturia manifested as tubular acidosis and phosphate loss |
Human | NDUFAF4 | 29078 | NADH dehydrogenase (ubiquinone) complex I, assembly factor 4 | INFERRED, Score=800, UMLKSK CUI: C0001122 |
Human | UQCRQ | 27089 | ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa | INFERRED, Score=800, UMLKSK CUI: C0001122 |
Human | ISCU | 23479 | iron-sulfur cluster assembly enzyme | INFERRED, Score=800, UMLKSK CUI: C0001122 |
Human | MLYCD | 23417 | malonyl-CoA decarboxylase | INFERRED, Score=800, UMLKSK CUI: C0001122 |
Human | TSFM | 10102 | Ts translation elongation factor, mitochondrial | INFERRED, Score=800, UMLKSK CUI: C0001122 |
Human | RANBP9 | 10048 | RAN binding protein 9 | INFERRED, Score=800, UMLKSK CUI: C0001122 |
Human | SCO2 | 9997 | SCO2 cytochrome c oxidase assembly protein | INFERRED, Score=800, UMLKSK CUI: C0001122 |
Human | MED12 | 9968 | mediator complex subunit 12 | INFERRED, Score=800, UMLKSK CUI: C0001122 |
Human | PIAS2 | 9063 | protein inhibitor of activated STAT, 2 | INFERRED, Score=800, UMLKSK CUI: C0001122 |
Human | SUCLA2 | 8803 | succinate-CoA ligase, ADP-forming, beta subunit | INFERRED, Score=800, UMLKSK CUI: C0001122 |
Human | SUCLG1 | 8802 | succinate-CoA ligase, alpha subunit | INFERRED, Score=800, UMLKSK CUI: C0001122 |
Human | GPR65 | 8477 | G protein-coupled receptor 65 | TDAG8 may play biological roles in immune response and cellular transformation under conditions accompanying tissue acidosis |
Human | PDHX | 8050 | pyruvate dehydrogenase complex, component X | INFERRED, Score=800, UMLKSK CUI: C0001122 |