coxa valga Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults). (Human Phenotype Ontology, HP_0002673)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002673
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Genes

26 genes associated with the coxa valga 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
ADAMTSL2 ADAMTS-like 2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATRX alpha thalassemia/mental retardation syndrome X-linked
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
CANT1 calcium activated nucleotidase 1
COL11A1 collagen, type XI, alpha 1
COL2A1 collagen, type II, alpha 1
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
ERCC6 excision repair cross-complementation group 6
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FLNA filamin A, alpha
FUCA1 fucosidase, alpha-L- 1, tissue
GALNS galactosamine (N-acetyl)-6-sulfatase
GLB1 galactosidase, beta 1
HSPG2 heparan sulfate proteoglycan 2
IDUA iduronidase, alpha-L-
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
RAB23 RAB23, member RAS oncogene family
RBM8A RNA binding motif protein 8A
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
SHOX short stature homeobox
SIL1 SIL1 nucleotide exchange factor
TGFB3 transforming growth factor, beta 3
XYLT1 xylosyltransferase I