abnormality of the tibia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Abnormality of the tibia (shinbone). (Human Phenotype Ontology, HP_0002992)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002992
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Genes

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

Symbol Name
ATP7A ATPase, Cu++ transporting, alpha polypeptide
BHLHA9 basic helix-loop-helix family, member a9
BMPR1B bone morphogenetic protein receptor, type IB
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
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1
EIF4A3 eukaryotic translation initiation factor 4A3
EXT1 exostosin glycosyltransferase 1
EXT2 exostosin glycosyltransferase 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
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
HYLS1 hydrolethalus syndrome 1
IHH indian hedgehog
LIFR leukemia inhibitory factor receptor alpha
LMBR1 limb development membrane protein 1
MIPOL1 mirror-image polydactyly 1
MMP13 matrix metallopeptidase 13
NEK1 NIMA-related kinase 1
NF1 neurofibromin 1
P3H1 prolyl 3-hydroxylase 1
PCNT pericentrin
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PHEX phosphate regulating endopeptidase homolog, X-linked
RBM8A RNA binding motif protein 8A
RMRP RNA component of mitochondrial RNA processing endoribonuclease
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SETBP1 SET binding protein 1
SHH sonic hedgehog
SHOX short stature homeobox
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
SLCO5A1 solute carrier organic anion transporter family, member 5A1
SMOC1 SPARC related modular calcium binding 1
SOX9 SRY (sex determining region Y)-box 9
SULF1 sulfatase 1
TBXAS1 thromboxane A synthase 1 (platelet)
TCTN3 tectonic family member 3
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