bowing of the long bones Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A bending or abnormal curvature of a long bone. (Human Phenotype Ontology, HP_0006487)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0006487
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Genes

160 genes associated with the bowing of the long bones phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACAN aggrecan
ALPL alkaline phosphatase, liver/bone/kidney
ANO5 anoctamin 5
ARSB arylsulfatase B
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATRX alpha thalassemia/mental retardation syndrome X-linked
B2M beta-2-microglobulin
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GAT3 beta-1,3-glucuronyltransferase 3
B9D1 B9 protein domain 1
B9D2 B9 protein domain 2
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCOR BCL6 corepressor
BCR breakpoint cluster region
BMPR1B bone morphogenetic protein receptor, type IB
BRAF B-Raf proto-oncogene, serine/threonine kinase
C12ORF57 chromosome 12 open reading frame 57
CA2 carbonic anhydrase II
CANT1 calcium activated nucleotidase 1
CBS cystathionine-beta-synthase
CC2D2A coiled-coil and C2 domain containing 2A
CEP290 centrosomal protein 290kDa
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CLCN5 chloride channel, voltage-sensitive 5
CLCN7 chloride channel, voltage-sensitive 7
CLIP2 CAP-GLY domain containing linker protein 2
COL10A1 collagen, type X, alpha 1
COL11A1 collagen, type XI, alpha 1
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
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CRTAP cartilage associated protein
CTC1 CTS telomere maintenance complex component 1
CTNS cystinosin, lysosomal cystine transporter
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1
DYM dymeclin
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EHHADH enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
ELN elastin
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
EXT1 exostosin glycosyltransferase 1
EXT2 exostosin glycosyltransferase 2
FAM111A family with sequence similarity 111, member A
FAM20C family with sequence similarity 20, member C
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
FLNA filamin A, alpha
FLNB filamin B, beta
GALNS galactosamine (N-acetyl)-6-sulfatase
GDF5 growth differentiation factor 5
GLB1 galactosidase, beta 1
GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HBB hemoglobin, beta
HOXA11 homeobox A11
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
HSPG2 heparan sulfate proteoglycan 2
IDUA iduronidase, alpha-L-
IFT172 intraflagellar transport 172
IHH indian hedgehog
IMPAD1 inositol monophosphatase domain containing 1
KIF22 kinesin family member 22
KIF7 kinesin family member 7
KRAS Kirsten rat sarcoma viral oncogene homolog
LBR lamin B receptor
LIFR leukemia inhibitory factor receptor alpha
LIMK1 LIM domain kinase 1
LMBR1 limb development membrane protein 1
LRP5 low density lipoprotein receptor-related protein 5
MAN2B1 mannosidase, alpha, class 2B, member 1
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MAPK1 mitogen-activated protein kinase 1
MATN3 matrilin 3
MKS1 Meckel syndrome, type 1
MMP13 matrix metallopeptidase 13
MMP9 matrix metallopeptidase 9
MPST mercaptopyruvate sulfurtransferase
MTAP methylthioadenosine phosphorylase
NEK8 NIMA-related kinase 8
NF1 neurofibromin 1
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NKX3-2 NK3 homeobox 2
NOTCH2 notch 2
NPR2 natriuretic peptide receptor 2
NSD1 nuclear receptor binding SET domain protein 1
OCRL oculocerebrorenal syndrome of Lowe
ORC1 origin recognition complex, subunit 1
ORC6 origin recognition complex, subunit 6
P3H1 prolyl 3-hydroxylase 1
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2
PCNT pericentrin
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PEPD peptidase D
PHEX phosphate regulating endopeptidase homolog, X-linked
PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
POR P450 (cytochrome) oxidoreductase
PTH1R parathyroid hormone 1 receptor
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PYCR1 pyrroline-5-carboxylate reductase 1
RAB23 RAB23, member RAS oncogene family
RAB33B RAB33B, member RAS oncogene family
RBM8A RNA binding motif protein 8A
RECQL4 RecQ protein-like 4
RFC2 replication factor C (activator 1) 2, 40kDa
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
RPGRIP1L RPGRIP1-like
RUNX2 runt-related transcription factor 2
SCARF2 scavenger receptor class F, member 2
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
SETBP1 SET binding protein 1
SH3PXD2B SH3 and PX domains 2B
SHH sonic hedgehog
SHOX short stature homeobox
SKI SKI proto-oncogene
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
SLCO2A1 solute carrier organic anion transporter family, member 2A1
SLCO5A1 solute carrier organic anion transporter family, member 5A1
SMOC1 SPARC related modular calcium binding 1
SNX10 sorting nexin 10
SOX9 SRY (sex determining region Y)-box 9
SULF1 sulfatase 1
TBL2 transducin (beta)-like 2
TBXAS1 thromboxane A synthase 1 (platelet)
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TCTN2 tectonic family member 2
TCTN3 tectonic family member 3
TGFB1 transforming growth factor, beta 1
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM67 transmembrane protein 67
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TRPS1 trichorhinophalangeal syndrome I
TRPV4 transient receptor potential cation channel, subfamily V, member 4
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VPS13B vacuolar protein sorting 13 homolog B (yeast)
WDPCP WD repeat containing planar cell polarity effector
WDR35 WD repeat domain 35
WDR60 WD repeat domain 60
WISP3 WNT1 inducible signaling pathway protein 3
WNT7A wingless-type MMTV integration site family, member 7A
ZBTB20 zinc finger and BTB domain containing 20