Human | FGD4 | 121512 | FYVE, RhoGEF and PH domain containing 4 | |
Human | FAM126A | 84668 | family with sequence similarity 126, member A | |
Human | ZNF469 | 84627 | zinc finger protein 469 | |
Human | GNPTG | 84572 | N-acetylglucosamine-1-phosphate transferase, gamma subunit | |
Human | ADAMTS10 | 81794 | ADAM metallopeptidase with thrombospondin type 1 motif, 10 | |
Human | SH3TC2 | 79628 | SH3 domain and tetratricopeptide repeats 2 | Scoliosis, early-onset, severe |
Human | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits | |
Human | FKRP | 79147 | fukutin related protein | |
Human | UPF3B | 65109 | UPF3 regulator of nonsense transcripts homolog B (yeast) | |
Human | PORCN | 64840 | porcupine homolog (Drosophila) | |
Human | SIL1 | 64374 | SIL1 nucleotide exchange factor | |
Human | NSD1 | 64324 | nuclear receptor binding SET domain protein 1 | |
Human | ROBO3 | 64221 | roundabout, axon guidance receptor, homolog 3 (Drosophila) | Scoliosis, thoracolumbar, severe, progressive Incidence of scoliosis in individuals harbouring heterozygous ROBO3 mutations may be greater than in the general population Onset of scoliosis as early as 2 years of age |
Human | LEPRE1 | 64175 | leucine proline-enriched proteoglycan (leprecan) 1 | |
Human | ALS2 | 57679 | amyotrophic lateral sclerosis 2 (juvenile) | |
Human | PLEKHG5 | 57449 | pleckstrin homology domain containing, family G (with RhoGef domain) member 5 | |
Human | SEPN1 | 57190 | selenoprotein N, 1 | |
Human | SALL4 | 57167 | sal-like 4 (Drosophila) | |
Human | APTX | 54840 | aprataxin | |
Human | DYM | 54808 | dymeclin | |
Human | SNTG1 | 54212 | syntrophin, gamma 1 | Title:SNTG1, the gene encoding gamma1-syntrophin: acandidate gene for idiopathic scoliosis.|Association:Not Found|Conclusion:Thus, although genetic heterogeneity or multiple alleles cannot be ruled out, the 6-bp deletion does not consistently co-segregate with the disease in this family. |
Human | RAB23 | 51715 | RAB23, member RAS oncogene family | |
Human | ATL1 | 51062 | atlastin GTPase 1 | |
Human | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | |
Human | HSPB8 | 26353 | heat shock 22kDa protein 8 | |