abnormality of the femoral neck Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). (Human Phenotype Ontology, HP_0003367)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003367
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Genes

58 genes associated with the abnormality of the femoral neck 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
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
BMPR1B bone morphogenetic protein receptor, type IB
CANT1 calcium activated nucleotidase 1
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
COL10A1 collagen, type X, alpha 1
COL11A1 collagen, type XI, alpha 1
COL2A1 collagen, type II, alpha 1
COMP cartilage oligomeric matrix protein
CRTAP cartilage associated protein
CTC1 CTS telomere maintenance complex component 1
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
ERCC6 excision repair cross-complementation group 6
EXT1 exostosin glycosyltransferase 1
EXT2 exostosin glycosyltransferase 2
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FGFR3 fibroblast growth factor receptor 3
FKBP10 FK506 binding protein 10, 65 kDa
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-
IFT140 intraflagellar transport 140
IHH indian hedgehog
KIF22 kinesin family member 22
MATN3 matrilin 3
MEGF8 multiple EGF-like-domains 8
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MMP13 matrix metallopeptidase 13
MMP9 matrix metallopeptidase 9
ORC6 origin recognition complex, subunit 6
PCNT pericentrin
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
POC1A POC1 centriolar protein A
PRG4 proteoglycan 4
RAB23 RAB23, member RAS oncogene family
RAB33B RAB33B, member RAS oncogene family
RBM8A RNA binding motif protein 8A
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
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
SHOX short stature homeobox
SIL1 SIL1 nucleotide exchange factor
SLC39A13 solute carrier family 39 (zinc transporter), member 13
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TGFB3 transforming growth factor, beta 3
TRAPPC2 trafficking protein particle complex 2
TRPV4 transient receptor potential cation channel, subfamily V, member 4
WISP3 WNT1 inducible signaling pathway protein 3
XYLT1 xylosyltransferase I