abnormality of the femur Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Abnormality of the femur. (Human Phenotype Ontology, HP_0002823)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002823
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Genes

130 genes associated with the abnormality of the femur 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
AGPS alkylglycerone phosphate synthase
ANKH ANKH inorganic pyrophosphate transport regulator
ANKRD11 ankyrin repeat domain 11
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
BHLHA9 basic helix-loop-helix family, member a9
BMPR1B bone morphogenetic protein receptor, type IB
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
CANT1 calcium activated nucleotidase 1
CDC6 cell division cycle 6
CHD7 chromodomain helicase DNA binding protein 7
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CLCN5 chloride channel, voltage-sensitive 5
COL10A1 collagen, type X, alpha 1
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, 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
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1
DYM dymeclin
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
ERCC4 excision repair cross-complementation group 4
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
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCF Fanconi anemia, complementation group F
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
FANCM Fanconi anemia, complementation group M
FBN1 fibrillin 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FKBP10 FK506 binding protein 10, 65 kDa
FLNA filamin A, alpha
FLNB filamin B, beta
FUCA1 fucosidase, alpha-L- 1, tissue
GALNS galactosamine (N-acetyl)-6-sulfatase
GBA glucosidase, beta, acid
GDF5 growth differentiation factor 5
GJA1 gap junction protein, alpha 1, 43kDa
GLA galactosidase, alpha
GLB1 galactosidase, beta 1
GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit
GPC6 glypican 6
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
LMX1B LIM homeobox transcription factor 1, beta
MAN2B1 mannosidase, alpha, class 2B, member 1
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
NEK8 NIMA-related kinase 8
ORC6 origin recognition complex, subunit 6
P3H1 prolyl 3-hydroxylase 1
PALB2 partner and localizer of BRCA2
PCNT pericentrin
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PHEX phosphate regulating endopeptidase homolog, X-linked
PLEKHM1 pleckstrin homology domain containing, family M (with RUN domain) member 1
PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
POC1A POC1 centriolar protein A
POR P450 (cytochrome) oxidoreductase
PRG4 proteoglycan 4
PSAP prosaposin
RAB23 RAB23, member RAS oncogene family
RAB33B RAB33B, member RAS oncogene family
RAD51C RAD51 paralog C
RBM8A RNA binding motif protein 8A
RET ret proto-oncogene
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RUNX2 runt-related transcription factor 2
SBDS Shwachman-Bodian-Diamond syndrome
SCARF2 scavenger receptor class F, member 2
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SERPINF1 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1
SETBP1 SET binding protein 1
SHOX short stature homeobox
SIL1 SIL1 nucleotide exchange factor
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SLCO5A1 solute carrier organic anion transporter family, member 5A1
SLX4 SLX4 structure-specific endonuclease subunit
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SOX9 SRY (sex determining region Y)-box 9
SULF1 sulfatase 1
TBX4 T-box 4
TBXAS1 thromboxane A synthase 1 (platelet)
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TGFB1 transforming growth factor, beta 1
TGFB3 transforming growth factor, beta 3
TRAPPC2 trafficking protein particle complex 2
TRIP11 thyroid hormone receptor interactor 11
TRPS1 trichorhinophalangeal syndrome I
TRPV4 transient receptor potential cation channel, subfamily V, member 4
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
WDR60 WD repeat domain 60
WISP3 WNT1 inducible signaling pathway protein 3
WNT7A wingless-type MMTV integration site family, member 7A
XYLT1 xylosyltransferase I
ZBTB16 zinc finger and BTB domain containing 16