coxa vara Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees. (Human Phenotype Ontology, HP_0002812)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002812
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Genes

23 genes associated with the coxa vara phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
CANT1 calcium activated nucleotidase 1
COL10A1 collagen, type X, alpha 1
COL2A1 collagen, type II, alpha 1
CRTAP cartilage associated protein
EXT1 exostosin glycosyltransferase 1
EXT2 exostosin glycosyltransferase 2
FKBP10 FK506 binding protein 10, 65 kDa
HSPG2 heparan sulfate proteoglycan 2
IHH indian hedgehog
MATN3 matrilin 3
MEGF8 multiple EGF-like-domains 8
MMP13 matrix metallopeptidase 13
ORC6 origin recognition complex, subunit 6
PCNT pericentrin
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PRG4 proteoglycan 4
RUNX2 runt-related transcription factor 2
SBDS Shwachman-Bodian-Diamond syndrome
SERPINF1 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TRAPPC2 trafficking protein particle complex 2
TRPV4 transient receptor potential cation channel, subfamily V, member 4
WISP3 WNT1 inducible signaling pathway protein 3