abnormal form of the vertebral bodies Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Abnormal morphology of vertebral body. (Human Phenotype Ontology, HP_0003312)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003312
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Genes

181 genes associated with the abnormal form of the vertebral bodies phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ACAN aggrecan
ACP5 acid phosphatase 5, tartrate resistant
ACVR1 activin A receptor, type I
ADA adenosine deaminase
ADAMTSL2 ADAMTS-like 2
AGA aspartylglucosaminidase
AIP aryl hydrocarbon receptor interacting protein
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALPL alkaline phosphatase, liver/bone/kidney
ANKRD11 ankyrin repeat domain 11
ARSB arylsulfatase B
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATRX alpha thalassemia/mental retardation syndrome X-linked
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GALTL beta 1,3-galactosyltransferase-like
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BMP1 bone morphogenetic protein 1
CANT1 calcium activated nucleotidase 1
CBS cystathionine-beta-synthase
CCDC8 coiled-coil domain containing 8
CHD7 chromodomain helicase DNA binding protein 7
CHN1 chimerin 1
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CLCN7 chloride channel, voltage-sensitive 7
CLIP2 CAP-GLY domain containing linker protein 2
COG1 component of oligomeric golgi complex 1
COL10A1 collagen, type X, alpha 1
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL2A1 collagen, type II, alpha 1
COL9A1 collagen, type IX, alpha 1
COL9A2 collagen, type IX, alpha 2
COL9A3 collagen, type IX, alpha 3
COMP cartilage oligomeric matrix protein
CUL7 cullin 7
DDR2 discoidin domain receptor tyrosine kinase 2
DHCR7 7-dehydrocholesterol reductase
DLL3 delta-like 3 (Drosophila)
DYM dymeclin
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EBP emopamil binding protein (sterol isomerase)
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
ELN elastin
ERF Ets2 repressor factor
FAM111A family with sequence similarity 111, member A
FBN1 fibrillin 1
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FKBP10 FK506 binding protein 10, 65 kDa
FLII flightless I homolog (Drosophila)
FLNA filamin A, alpha
FLNB filamin B, beta
FNBP4 formin binding protein 4
FOXF1 forkhead box F1
FUCA1 fucosidase, alpha-L- 1, tissue
FUZ fuzzy planar cell polarity protein
GALNS galactosamine (N-acetyl)-6-sulfatase
GJA1 gap junction protein, alpha 1, 43kDa
GLB1 galactosidase, beta 1
GLE1 GLE1 RNA export mediator
GLI3 GLI family zinc finger 3
GNPAT glyceronephosphate O-acyltransferase
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit
GNS glucosamine (N-acetyl)-6-sulfatase
GORAB golgin, RAB6-interacting
GPC3 glypican 3
GPC4 glypican 4
GPX4 glutathione peroxidase 4
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
GUSB glucuronidase, beta
HDAC6 histone deacetylase 6
HES7 hes family bHLH transcription factor 7
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
HHAT hedgehog acyltransferase
HSPG2 heparan sulfate proteoglycan 2
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IDUA iduronidase, alpha-L-
IFITM5 interferon induced transmembrane protein 5
IFT80 intraflagellar transport 80
IHH indian hedgehog
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
INPPL1 inositol polyphosphate phosphatase-like 1
JAG1 jagged 1
KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8
KDM6A lysine (K)-specific demethylase 6A
KIAA0196 KIAA0196
KIF22 kinesin family member 22
KMT2D lysine (K)-specific methyltransferase 2D
LBR lamin B receptor
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LIMK1 LIM domain kinase 1
LRP5 low density lipoprotein receptor-related protein 5
MAN2B1 mannosidase, alpha, class 2B, member 1
MATN3 matrilin 3
MBTPS2 membrane-bound transcription factor peptidase, site 2
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
MMP13 matrix metallopeptidase 13
MPL MPL proto-oncogene, thrombopoietin receptor
NAGLU N-acetylglucosaminidase, alpha
NELFA negative elongation factor complex member A
NEU1 sialidase 1 (lysosomal sialidase)
NOTCH2 notch 2
NPR2 natriuretic peptide receptor 2
OBSL1 obscurin-like 1
OCRL oculocerebrorenal syndrome of Lowe
ORC1 origin recognition complex, subunit 1
P3H1 prolyl 3-hydroxylase 1
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PDE4D phosphodiesterase 4D, cAMP-specific
PEX7 peroxisomal biogenesis factor 7
PIEZO2 piezo-type mechanosensitive ion channel component 2
PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
POR P450 (cytochrome) oxidoreductase
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PTCH1 patched 1
PTCH2 patched 2
PTEN phosphatase and tensin homolog
PTH1R parathyroid hormone 1 receptor
PUF60 poly-U binding splicing factor 60KDa
PYCR1 pyrroline-5-carboxylate reductase 1
RAB33B RAB33B, member RAS oncogene family
RAD21 RAD21 homolog (S. pombe)
RAI1 retinoic acid induced 1
RFC2 replication factor C (activator 1) 2, 40kDa
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPS19 ribosomal protein S19
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RUNX2 runt-related transcription factor 2
SBDS Shwachman-Bodian-Diamond syndrome
SC5D sterol-C5-desaturase
SEC23A Sec23 homolog A (S. cerevisiae)
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SERPINF1 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
SGSH N-sulfoglucosamine sulfohydrolase
SH3PXD2B SH3 and PX domains 2B
SKI SKI proto-oncogene
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
SLC35D1 solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SMAD4 SMAD family member 4
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SMOC1 SPARC related modular calcium binding 1
SOST sclerostin
SOX2 SRY (sex determining region Y)-box 2
SUFU suppressor of fused homolog (Drosophila)
SUMF1 sulfatase modifying factor 1
TBL2 transducin (beta)-like 2
TBX15 T-box 15
TBX6 T-box 6
TBXAS1 thromboxane A synthase 1 (platelet)
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TMCO1 transmembrane and coiled-coil domains 1
TRAPPC2 trafficking protein particle complex 2
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TWIST1 twist family bHLH transcription factor 1
VANGL1 VANGL planar cell polarity protein 1
VANGL2 VANGL planar cell polarity protein 2
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
WDR34 WD repeat domain 34
WDR35 WD repeat domain 35
WDR60 WD repeat domain 60
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WISP3 WNT1 inducible signaling pathway protein 3
WNT1 wingless-type MMTV integration site family, member 1
WNT7A wingless-type MMTV integration site family, member 7A
ZBTB20 zinc finger and BTB domain containing 20