kyphoscoliosis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane. (Human Phenotype Ontology, HP_0002751)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002751
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Genes

68 genes associated with the kyphoscoliosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACTB actin, beta
AIMP1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
AKT1 v-akt murine thymoma viral oncogene homolog 1
ATRX alpha thalassemia/mental retardation syndrome X-linked
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
BMP1 bone morphogenetic protein 1
CBS cystathionine-beta-synthase
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CLIC2 chloride intracellular channel 2
COL2A1 collagen, type II, alpha 1
CRLF1 cytokine receptor-like factor 1
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
DNA2 DNA replication helicase/nuclease 2
EGR2 early growth response 2
ERCC1 excision repair cross-complementation group 1
ERCC2 excision repair cross-complementation group 2
ERCC6 excision repair cross-complementation group 6
FBN1 fibrillin 1
FBN2 fibrillin 2
FKBP14 FK506 binding protein 14, 22 kDa
FLNA filamin A, alpha
GDAP1 ganglioside induced differentiation associated protein 1
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
HMGB3 high mobility group box 3
HRAS Harvey rat sarcoma viral oncogene homolog
HSPG2 heparan sulfate proteoglycan 2
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
KRAS Kirsten rat sarcoma viral oncogene homolog
LAMA2 laminin, alpha 2
LMNA lamin A/C
LRP5 low density lipoprotein receptor-related protein 5
MAPT microtubule-associated protein tau
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MMP2 matrix metallopeptidase 2
MPZ myelin protein zero
MVK mevalonate kinase
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NOTCH2 notch 2
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2
PEX7 peroxisomal biogenesis factor 7
PIEZO2 piezo-type mechanosensitive ion channel component 2
PMP22 peripheral myelin protein 22
PRX periaxin
PTCH1 patched 1
PTCH2 patched 2
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAB18 RAB18, member RAS oncogene family
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)
RBM28 RNA binding motif protein 28
RECQL4 RecQ protein-like 4
RYR1 ryanodine receptor 1 (skeletal)
SBF2 SET binding factor 2
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC52A2 solute carrier family 52 (riboflavin transporter), member 2
SMS spermine synthase
SOX9 SRY (sex determining region Y)-box 9
SPG20 spastic paraplegia 20 (Troyer syndrome)
STAC3 SH3 and cysteine rich domain 3
SUFU suppressor of fused homolog (Drosophila)
TCTN3 tectonic family member 3
TMEM165 transmembrane protein 165
TPM2 tropomyosin 2 (beta)
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TTI2 TELO2 interacting protein 2
WISP3 WNT1 inducible signaling pathway protein 3
ZMPSTE24 zinc metallopeptidase STE24