Human | SBF2 | 81846 | SET binding factor 2 | Kyphoscoliosis may be present |
Human | PRX | 57716 | periaxin | |
Human | GDAP1 | 54332 | ganglioside induced differentiation associated protein 1 | |
Human | RAB3GAP1 | 22930 | RAB3 GTPase activating protein subunit 1 (catalytic) | |
Human | ZMPSTE24 | 10269 | zinc metallopeptidase STE24 | |
Human | GTF2IRD1 | 9569 | GTF2I repeat domain containing 1 | |
Human | CRLF1 | 9244 | cytokine receptor-like factor 1 | |
Human | CTDP1 | 9150 | CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 | |
Human | WISP3 | 8838 | WNT1 inducible signaling pathway protein 3 | |
Human | IKBKG | 8517 | inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma | |
Human | SOX9 | 6662 | SRY (sex determining region Y)-box 9 | |
Human | SMS | 6611 | spermine synthase | |
Human | RYR1 | 6261 | ryanodine receptor 1 (skeletal) | |
Human | PTPN11 | 5781 | protein tyrosine phosphatase, non-receptor type 11 | |
Human | PTEN | 5728 | phosphatase and tensin homolog | Spinal stenosis from angular kyphoscoliosis |
Human | PTCH1 | 5727 | patched 1 | |
Human | PMP22 | 5376 | peripheral myelin protein 22 | Kyphoscoliosis may be present |
Human | PEX7 | 5191 | peroxisomal biogenesis factor 7 | |
Human | MYH3 | 4621 | myosin, heavy chain 3, skeletal muscle, embryonic | |
Human | MPZ | 4359 | myelin protein zero | Kyphoscoliosis may be present |
Human | MMP2 | 4313 | matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) | |
Human | MAPT | 4137 | microtubule-associated protein tau | |
Human | LRP5 | 4041 | low density lipoprotein receptor-related protein 5 | |
Human | LMNA | 4000 | lamin A/C | Kyphoscoliosis may be present |
Human | LAMA2 | 3908 | laminin, alpha 2 | Kyphoscoliosis (in some patients) |