abnormality of the femoral neck or head region Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003366
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Genes

71 genes associated with the abnormality of the femoral neck or head region 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
ACAN aggrecan
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
CDC6 cell division cycle 6
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
COL10A1 collagen, type X, alpha 1
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL2A1 collagen, type II, alpha 1
COMP cartilage oligomeric matrix protein
CREBBP CREB binding protein
CRTAP cartilage associated protein
CTC1 CTS telomere maintenance complex component 1
DYM dymeclin
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
GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit
HSPG2 heparan sulfate proteoglycan 2
IDUA iduronidase, alpha-L-
IFT140 intraflagellar transport 140
IHH indian hedgehog
KIF22 kinesin family member 22
LBR lamin B receptor
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
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
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
RET ret proto-oncogene
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
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
TBX4 T-box 4
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
TRPS1 trichorhinophalangeal syndrome I
TRPV4 transient receptor potential cation channel, subfamily V, member 4
WISP3 WNT1 inducible signaling pathway protein 3
XYLT1 xylosyltransferase I