abnormal cortical bone morphology Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of compact bone (also known as cortical bone), which forms the dense surface of bones. (Human Phenotype Ontology, HP_0003103)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003103
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35 genes associated with the abnormal cortical bone morphology phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10
AGA aspartylglucosaminidase
AKT1 v-akt murine thymoma viral oncogene homolog 1
ANO5 anoctamin 5
CLCN5 chloride channel, voltage-sensitive 5
COL1A1 collagen, type I, alpha 1
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1
FAM111A family with sequence similarity 111, member A
FAM134B family with sequence similarity 134, member B
FBN1 fibrillin 1
FLNA filamin A, alpha
GJA1 gap junction protein, alpha 1, 43kDa
GLE1 GLE1 RNA export mediator
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
KIF1A kinesin family member 1A
LEMD3 LEM domain containing 3
LIFR leukemia inhibitory factor receptor alpha
LRP4 low density lipoprotein receptor-related protein 4
LRP5 low density lipoprotein receptor-related protein 5
MCPH1 microcephalin 1
NSDHL NAD(P) dependent steroid dehydrogenase-like
PEX19 peroxisomal biogenesis factor 19
PTDSS1 phosphatidylserine synthase 1
SCN9A sodium channel, voltage gated, type IX alpha subunit
SETBP1 SET binding protein 1
SH3PXD2B SH3 and PX domains 2B
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
SLCO2A1 solute carrier organic anion transporter family, member 2A1
SOST sclerostin
TBXAS1 thromboxane A synthase 1 (platelet)
TGFB1 transforming growth factor, beta 1
TRPV4 transient receptor potential cation channel, subfamily V, member 4
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
WNK1 WNK lysine deficient protein kinase 1