Human | NDUFS7 | 374291 | NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) | Progressive disorder, usually with rapid, relentless course |
Human | KCTD7 | 154881 | potassium channel tetramerization domain containing 7 | |
Human | C8orf38 | 137682 | | Progressive disorder, usually with rapid, relentless course |
Human | NIPA1 | 123606 | non imprinted in Prader-Willi/Angelman syndrome 1 | |
Human | SPG11 | 80208 | spastic paraplegia 11 (autosomal recessive) | |
Human | C10orf2 | 56652 | chromosome 10 open reading frame 2 | |
Human | ZFYVE26 | 23503 | zinc finger, FYVE domain containing 26 | |
Human | SETX | 23064 | senataxin | |
Human | POLG2 | 11232 | polymerase (DNA directed), gamma 2, accessory subunit | |
Human | SLC12A6 | 9990 | solute carrier family 12 (potassium/chloride transporter), member 6 | |
Human | KIAA0196 | 9897 | KIAA0196 | |
Human | CYP7B1 | 9420 | cytochrome P450, family 7, subfamily B, polypeptide 1 | |
Human | IKBKAP | 8518 | inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein | |
Human | PLA2G6 | 8398 | phospholipase A2, group VI (cytosolic, calcium-independent) | |
Human | PABPN1 | 8106 | poly(A) binding protein, nuclear 1 | |
Human | AAAS | 8086 | achalasia, adrenocortical insufficiency, alacrimia | |
Human | TH | 7054 | tyrosine hydroxylase | tyrosine hydroxylase deficiency results not in predominating dystonia, a largely nondegenerative condition, but in a progressive often lethal neurometabolic disorder, which can be improved but not cured by L-dopa |
Human | TBP | 6908 | TATA box binding protein | |
Human | SURF1 | 6834 | surfeit 1 | Progressive disorder, usually with rapid, relentless course |
Human | SPAST | 6683 | spastin | |
Human | SDHA | 6389 | succinate dehydrogenase complex, subunit A, flavoprotein (Fp) | Progressive disorder, usually with rapid, relentless course |
Human | MAPK10 | 5602 | mitogen-activated protein kinase 10 | |
Human | POLG | 5428 | polymerase (DNA directed), gamma | |
Human | NDUFS8 | 4728 | NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase) | Progressive disorder, usually with rapid, relentless course |
Human | NDUFS4 | 4724 | NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase) | Progressive disorder, usually with rapid, relentless course |