Human | ANO5 | 203859 | anoctamin 5 | Diaphyseal bowing (radius, ulnae, tibiae, fibula) |
Human | SLC34A3 | 142680 | solute carrier family 34 (type II sodium/phosphate contransporter), member 3 | |
Human | CYP2R1 | 120227 | cytochrome P450, family 2, subfamily R, polypeptide 1 | |
Human | MKS1 | 54903 | Meckel syndrome, type 1 | |
Human | DYM | 54808 | dymeclin | |
Human | CRTAP | 10491 | cartilage associated protein | |
Human | EIF2AK3 | 9451 | eukaryotic translation initiation factor 2-alpha kinase 3 | Bowing distal radii and ulnae |
Human | WISP3 | 8838 | WNT1 inducible signaling pathway protein 3 | |
Human | WNT7A | 7476 | wingless-type MMTV integration site family, member 7A | |
Human | VDR | 7421 | vitamin D (1,25- dihydroxyvitamin D3) receptor | |
Human | SOX9 | 6662 | SRY (sex determining region Y)-box 9 | |
Human | RMRP | 6023 | RNA component of mitochondrial RNA processing endoribonuclease | |
Human | PTH1R | 5745 | parathyroid hormone 1 receptor | Bowing of long bones, especially lower limb |
Human | PHEX | 5251 | phosphate regulating endopeptidase homolog, X-linked | |
Human | PCNT | 5116 | pericentrin | |
Human | TNFRSF11B | 4982 | tumor necrosis factor receptor superfamily, member 11b | |
Human | OCRL | 4952 | oculocerebrorenal syndrome of Lowe | |
Human | NPR2 | 4882 | natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) | |
Human | MMP13 | 4322 | matrix metallopeptidase 13 (collagenase 3) | |
Human | MATN3 | 4148 | matrilin 3 | |
Human | MAN2B1 | 4125 | mannosidase, alpha, class 2B, member 1 | |
Human | LIFR | 3977 | leukemia inhibitory factor receptor alpha | Congenital bowing of the long bones (lower extremity greater than upper extremity) |
Human | IHH | 3549 | indian hedgehog | |
Human | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | Anterior bowing of long bones |
Human | FLNB | 2317 | filamin B, beta | Short, bowed, rigid limbs |