metaphyseal widening Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Abnormal widening of the metaphyseal regions of long bones. (Human Phenotype Ontology, HP_0003016)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003016
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Genes

51 genes associated with the metaphyseal widening 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
ACVR1 activin A receptor, type I
ANKH ANKH inorganic pyrophosphate transport regulator
ARSB arylsulfatase B
ATP7A ATPase, Cu++ transporting, alpha polypeptide
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
BMPR1B bone morphogenetic protein receptor, type IB
CANT1 calcium activated nucleotidase 1
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL2A1 collagen, type II, alpha 1
COMP cartilage oligomeric matrix protein
CTNS cystinosin, lysosomal cystine transporter
DDR2 discoidin domain receptor tyrosine kinase 2
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
ERCC1 excision repair cross-complementation group 1
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FAM111A family with sequence similarity 111, member A
FGFR3 fibroblast growth factor receptor 3
FLNA filamin A, alpha
GALNS galactosamine (N-acetyl)-6-sulfatase
GJA1 gap junction protein, alpha 1, 43kDa
GLB1 galactosidase, beta 1
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
HSPG2 heparan sulfate proteoglycan 2
KIF22 kinesin family member 22
LBR lamin B receptor
LIFR leukemia inhibitory factor receptor alpha
LRP5 low density lipoprotein receptor-related protein 5
MATN3 matrilin 3
MMP13 matrix metallopeptidase 13
MMP2 matrix metallopeptidase 2
NPR2 natriuretic peptide receptor 2
PCNT pericentrin
PEX7 peroxisomal biogenesis factor 7
PITX1 paired-like homeodomain 1
PTDSS1 phosphatidylserine synthase 1
PTH1R parathyroid hormone 1 receptor
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RUNX2 runt-related transcription factor 2
SH3PXD2B SH3 and PX domains 2B
SKI SKI proto-oncogene
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC35D1 solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
SLC39A13 solute carrier family 39 (zinc transporter), member 13
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TRPV4 transient receptor potential cation channel, subfamily V, member 4
WDR19 WD repeat domain 19
WISP3 WNT1 inducible signaling pathway protein 3
XYLT1 xylosyltransferase I