Human | NDUFAF2 | 91942 | NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 | |
Human | PHF6 | 84295 | PHD finger protein 6 | |
Human | C20orf7 | 79133 | | |
Human | MTMR14 | 64419 | myotubularin related protein 14 | |
Human | C10orf2 | 56652 | chromosome 10 open reading frame 2 | |
Human | CHD7 | 55636 | chromodomain helicase DNA binding protein 7 | |
Human | KIF21A | 55605 | kinesin family member 21A | Surgery is effective at improving ptosis in the majority of patients with classic CFEOM (congenital fibiosis of the extraocular muscles) |
Human | BCOR | 54880 | BCL6 corepressor | |
Human | AHI1 | 54806 | Abelson helper integration site 1 | |
Human | LARS | 51520 | leucyl-tRNA synthetase | We identified a novel G3283A transition in the mitochondrial DNA tRNA(Leu (UUR)) gene in a patient with ptosis, ophthalmoparesis and hyporeflexia |
Human | NDUFAF4 | 29078 | NADH dehydrogenase (ubiquinone) complex I, assembly factor 4 | |
Human | SLC17A5 | 26503 | solute carrier family 17 (acidic sugar transporter), member 5 | |
Human | NIPBL | 25836 | Nipped-B homolog (Drosophila) | |
Human | RAB3GAP1 | 22930 | RAB3 GTPase activating protein subunit 1 (catalytic) | |
Human | POLG2 | 11232 | polymerase (DNA directed), gamma 2, accessory subunit | |
Human | SLC12A6 | 9990 | solute carrier family 12 (potassium/chloride transporter), member 6 | |
Human | ZEB2 | 9839 | zinc finger E-box binding homeobox 2 | |
Human | SEMA3E | 9723 | sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E | |
Human | PREPL | 9581 | prolyl endopeptidase-like | |
Human | TP63 | 8626 | tumor protein p63 | |
Human | COLQ | 8292 | collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase | |
Human | PABPN1 | 8106 | poly(A) binding protein, nuclear 1 | |
Human | WHSC1 | 7468 | Wolf-Hirschhorn syndrome candidate 1 | |
Human | WFS1 | 7466 | Wolfram syndrome 1 (wolframin) | |
Human | UBA1 | 7317 | ubiquitin-like modifier activating enzyme 1 | |