abnormality of the fibula Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An anomaly of the calf bone (fibula), one of the two bones of the calf. (Human Phenotype Ontology, HP_0002991)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002991
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Genes

37 genes associated with the abnormality of the fibula phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AMER1 APC membrane recruitment protein 1
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATR ATR serine/threonine kinase
BHLHA9 basic helix-loop-helix family, member a9
BMPR1B bone morphogenetic protein receptor, type IB
CANT1 calcium activated nucleotidase 1
CLCN5 chloride channel, voltage-sensitive 5
COL11A1 collagen, type XI, alpha 1
COL2A1 collagen, type II, alpha 1
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1
DDR2 discoidin domain receptor tyrosine kinase 2
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EIF4A3 eukaryotic translation initiation factor 4A3
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FLNA filamin A, alpha
FLNB filamin B, beta
FNBP4 formin binding protein 4
GDF5 growth differentiation factor 5
GPC6 glypican 6
IFT122 intraflagellar transport 122
IHH indian hedgehog
LMBR1 limb development membrane protein 1
MIPOL1 mirror-image polydactyly 1
PHEX phosphate regulating endopeptidase homolog, X-linked
RBM8A RNA binding motif protein 8A
SHH sonic hedgehog
SHOX short stature homeobox
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
SLC35D1 solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
SMOC1 SPARC related modular calcium binding 1
SOX9 SRY (sex determining region Y)-box 9
TBX15 T-box 15
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
WNT7A wingless-type MMTV integration site family, member 7A
ZBTB16 zinc finger and BTB domain containing 16