flared metaphysis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones. (Human Phenotype Ontology, HP_0003015)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003015
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Genes

25 genes associated with the flared metaphysis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
COL11A2 collagen, type XI, alpha 2
COL2A1 collagen, type II, alpha 1
DDR2 discoidin domain receptor tyrosine kinase 2
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
GJA1 gap junction protein, alpha 1, 43kDa
KIF22 kinesin family member 22
LBR lamin B receptor
LIFR leukemia inhibitory factor receptor alpha
MMP13 matrix metallopeptidase 13
NPR2 natriuretic peptide receptor 2
PCNT pericentrin
PEX7 peroxisomal biogenesis factor 7
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
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