Human | EDARADD | 128178 | EDAR-associated death domain | Depressed nasal bridge ('saddle nose') |
Human | ADAMTS10 | 81794 | ADAM metallopeptidase with thrombospondin type 1 motif, 10 | |
Human | NSD1 | 64324 | nuclear receptor binding SET domain protein 1 | |
Human | SMARCAL1 | 50485 | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 | |
Human | NIPBL | 25836 | Nipped-B homolog (Drosophila) | |
Human | EDAR | 10913 | ectodysplasin A receptor | Depressed nasal bridge ('saddle nose') |
Human | PREPL | 9581 | prolyl endopeptidase-like | Depressed nasal bridge (2p21del) |
Human | GTF2IRD1 | 9569 | GTF2I repeat domain containing 1 | |
Human | EIF2AK3 | 9451 | eukaryotic translation initiation factor 2-alpha kinase 3 | |
Human | CRLF1 | 9244 | cytokine receptor-like factor 1 | |
Human | TSHB | 7252 | thyroid stimulating hormone, beta | |
Human | TFAP2A | 7020 | transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) | |
Human | TBCE | 6905 | tubulin folding cofactor E | |
Human | SLC3A1 | 6519 | solute carrier family 3 (amino acid transporter heavy chain), member 1 | Depressed nasal bridge (2p21del) |
Human | MAP2K2 | 5605 | mitogen-activated protein kinase kinase 2 | |
Human | POR | 5447 | P450 (cytochrome) oxidoreductase | |
Human | PLOD1 | 5351 | procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 | |
Human | NAGA | 4668 | N-acetylgalactosaminidase, alpha- | |
Human | MGP | 4256 | matrix Gla protein | |
Human | KRAS | 3845 | Kirsten rat sarcoma viral oncogene homolog | |
Human | HSD17B4 | 3295 | hydroxysteroid (17-beta) dehydrogenase 4 | |
Human | HRAS | 3265 | Harvey rat sarcoma viral oncogene homolog | |
Human | GTF2I | 2969 | general transcription factor IIi | |
Human | FLNB | 2317 | filamin B, beta | |
Human | FGFR2 | 2263 | fibroblast growth factor receptor 2 | |