genu varum Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together. (Human Phenotype Ontology, HP_0002970)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002970
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Genes

31 genes associated with the genu varum phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACAN aggrecan
C12ORF57 chromosome 12 open reading frame 57
CANT1 calcium activated nucleotidase 1
COL10A1 collagen, type X, alpha 1
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
DYM dymeclin
FGFR3 fibroblast growth factor receptor 3
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
IHH indian hedgehog
KIF22 kinesin family member 22
MATN3 matrilin 3
MMP13 matrix metallopeptidase 13
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NKX3-2 NK3 homeobox 2
NSD1 nuclear receptor binding SET domain protein 1
ORC1 origin recognition complex, subunit 1
ORC6 origin recognition complex, subunit 6
PHEX phosphate regulating endopeptidase homolog, X-linked
RAB23 RAB23, member RAS oncogene family
RBM8A RNA binding motif protein 8A
RMRP RNA component of mitochondrial RNA processing endoribonuclease
SHOX short stature homeobox
SLCO2A1 solute carrier organic anion transporter family, member 2A1
TCTN3 tectonic family member 3
TRPV4 transient receptor potential cation channel, subfamily V, member 4
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
WISP3 WNT1 inducible signaling pathway protein 3