Acquired Kyphoscoliosis Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0600033
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Genes

149 genes associated with the disease Acquired Kyphoscoliosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACP5 acid phosphatase 5, tartrate resistant
ACTA1 actin, alpha 1, skeletal muscle
ACTB actin, beta
AGRN agrin
AIMP1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
AIMP2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
ATAD1 ATPase family, AAA domain containing 1
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATP6V1E1 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1
ATRX alpha thalassemia/mental retardation syndrome X-linked
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
BCOR BCL6 corepressor
BRAF B-Raf proto-oncogene, serine/threonine kinase
CBS cystathionine-beta-synthase
CHAT choline O-acetyltransferase
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CLIC2 chloride intracellular channel 2
CLP1 cleavage and polyadenylation factor I subunit 1
COG1 component of oligomeric golgi complex 1
COL12A1 collagen, type XII, alpha 1
COL13A1 collagen, type XIII, alpha 1
COL2A1 collagen, type II, alpha 1
COL5A1 collagen, type V, alpha 1
CRLF1 cytokine receptor-like factor 1
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
DLL3 delta-like 3 (Drosophila)
DNA2 DNA replication helicase/nuclease 2
DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha
DSTYK dual serine/threonine and tyrosine protein kinase
EGR2 early growth response 2
ELN elastin
ERCC1 excision repair cross-complementation group 1
ERCC2 excision repair cross-complementation group 2
ERCC6 excision repair cross-complementation group 6
EXTL3 exostosin-like glycosyltransferase 3
FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial
FBN1 fibrillin 1
FKBP10 FK506 binding protein 10, 65 kDa
FKBP14 FK506 binding protein 14, 22 kDa
FKRP fukutin related protein
FKTN fukutin
FLNA filamin A, alpha
FUT8 fucosyltransferase 8 (alpha (1,6) fucosyltransferase)
GAN gigaxonin
GDAP1 ganglioside induced differentiation associated protein 1
GORAB golgin, RAB6-interacting
GPC5 glypican 5
GUSB glucuronidase, beta
GZF1 GDNF-inducible zinc finger protein 1
HACD1 3-hydroxyacyl-CoA dehydratase 1
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
HIST1H1E histone cluster 1, H1e
HLA-B major histocompatibility complex, class I, B
HOXA11 homeobox A11
HOXC10 homeobox C10
HOXD10 homeobox D10
HOXD11 homeobox D11
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
ISPD isoprenoid synthase domain containing
ITGA7 integrin, alpha 7
JPH1 junctophilin 1
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1
KRAS Kirsten rat sarcoma viral oncogene homolog
KY kyphoscoliosis peptidase
LAMA2 laminin, alpha 2
LMNA lamin A/C
LRP5 low density lipoprotein receptor-related protein 5
MAP2K1 mitogen-activated protein kinase kinase 1
MAP3K20 mitogen-activated protein kinase kinase kinase 20
MAPT microtubule-associated protein tau
MECP2 methyl CpG binding protein 2
MEGF8 multiple EGF-like-domains 8
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
MLXIPL MLX interacting protein-like
MMP2 matrix metallopeptidase 2
MPZ myelin protein zero
MRPS34 mitochondrial ribosomal protein S34
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYL2 myosin, light chain 2, regulatory, cardiac, slow
MYO9A myosin IXA
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NDUFS3 NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
NONO non-POU domain containing, octamer-binding
NOTCH2 notch 2
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NSDHL NAD(P) dependent steroid dehydrogenase-like
NUP107 nucleoporin 107kDa
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2
PAX1 paired box 1
PEX7 peroxisomal biogenesis factor 7
PIEZO2 piezo-type mechanosensitive ion channel component 2
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PMM2 phosphomannomutase 2
PMP22 peripheral myelin protein 22
PNKP polynucleotide kinase 3'-phosphatase
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
POMT1 protein-O-mannosyltransferase 1
POSTN periostin, osteoblast specific factor
PPP1R15B protein phosphatase 1, regulatory subunit 15B
PRX periaxin
PTCH1 patched 1
PTCH2 patched 2
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAB18 RAB18, member RAS oncogene family
RAB23 RAB23, member RAS oncogene family
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)
RBM28 RNA binding motif protein 28
RECQL4 RecQ protein-like 4
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RYR1 ryanodine receptor 1 (skeletal)
SBF2 SET binding factor 2
SELENON selenoprotein N
SEMA6A sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A
SETBP1 SET binding protein 1
SLC10A7 solute carrier family 10, member 7
SLC18A3 solute carrier family 18 (vesicular acetylcholine transporter), member 3
SLC1A2 solute carrier family 1 (glial high affinity glutamate transporter), member 2
SLC25A1 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC5A7 solute carrier family 5 (sodium/choline cotransporter), member 7
SMS spermine synthase
SNAP25 synaptosomal-associated protein, 25kDa
SON SON DNA binding protein
SOX9 SRY (sex determining region Y)-box 9
SPART spartin
STAC3 SH3 and cysteine rich domain 3
SUFU suppressor of fused homolog (Drosophila)
SURF1 surfeit 1
SYT2 synaptotagmin II
TCTN3 tectonic family member 3
TELO2 telomere maintenance 2
TMEM165 transmembrane protein 165
TONSL tonsoku-like, DNA repair protein
TPM2 tropomyosin 2 (beta)
TPM3 tropomyosin 3
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TTI2 TELO2 interacting protein 2
TUBB3 tubulin, beta 3 class III
TUBB4A tubulin, beta 4A class IVa
VAMP1 vesicle-associated membrane protein 1 (synaptobrevin 1)
WDR45B WD repeat domain 45B
WISP3 WNT1 inducible signaling pathway protein 3
ZMPSTE24 zinc metallopeptidase STE24