recurrent fractures Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description The repeated occurence of bone fractures (implying an abnormally increased tendency for fracture). (Human Phenotype Ontology, HP_0002757)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002757
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Genes

115 genes associated with the recurrent fractures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
ALPL alkaline phosphatase, liver/bone/kidney
ANO5 anoctamin 5
ANOS1 anosmin 1
ANTXR2 anthrax toxin receptor 2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
CA2 carbonic anhydrase II
CASR calcium-sensing receptor
CAV1 caveolin 1, caveolae protein, 22kDa
CBS cystathionine-beta-synthase
CHD7 chromodomain helicase DNA binding protein 7
CLCN5 chloride channel, voltage-sensitive 5
CLCN7 chloride channel, voltage-sensitive 7
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL2A1 collagen, type II, alpha 1
CRTAP cartilage associated protein
CTC1 CTS telomere maintenance complex component 1
CTNND2 catenin (cadherin-associated protein), delta 2
CTSK cathepsin K
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1
DKC1 dyskeratosis congenita 1, dyskerin
DKK1 dickkopf WNT signaling pathway inhibitor 1
DUSP6 dual specificity phosphatase 6
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
EXT1 exostosin glycosyltransferase 1
EXT2 exostosin glycosyltransferase 2
FAM111A family with sequence similarity 111, member A
FBLN5 fibulin 5
FEZF1 FEZ family zinc finger 1
FGF17 fibroblast growth factor 17
FGF23 fibroblast growth factor 23
FGF8 fibroblast growth factor 8 (androgen-induced)
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FIG4 FIG4 phosphoinositide 5-phosphatase
FKBP10 FK506 binding protein 10, 65 kDa
FLRT3 fibronectin leucine rich transmembrane protein 3
FOS FBJ murine osteosarcoma viral oncogene homolog
FZD4 frizzled class receptor 4
GATA1 GATA binding protein 1 (globin transcription factor 1)
GBA glucosidase, beta, acid
GLE1 GLE1 RNA export mediator
GNAS GNAS complex locus
GORAB golgin, RAB6-interacting
HESX1 HESX homeobox 1
HRAS Harvey rat sarcoma viral oncogene homolog
HS6ST1 heparan sulfate 6-O-sulfotransferase 1
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IFITM5 interferon induced transmembrane protein 5
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
IL17RD interleukin 17 receptor D
KISS1R KISS1 receptor
KRAS Kirsten rat sarcoma viral oncogene homolog
LEMD3 LEM domain containing 3
LIFR leukemia inhibitory factor receptor alpha
LPIN2 lipin 2
LRP5 low density lipoprotein receptor-related protein 5
MOGS mannosyl-oligosaccharide glucosidase
MTAP methylthioadenosine phosphorylase
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NHP2 NHP2 ribonucleoprotein
NOP10 NOP10 ribonucleoprotein
NOTCH2 notch 2
NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor
OCRL oculocerebrorenal syndrome of Lowe
P3H1 prolyl 3-hydroxylase 1
PDE11A phosphodiesterase 11A
PDE8B phosphodiesterase 8B
PHEX phosphate regulating endopeptidase homolog, X-linked
PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
PPIB peptidylprolyl isomerase B (cyclophilin B)
PRDM5 PR domain containing 5
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PROK2 prokineticin 2
PROKR2 prokineticin receptor 2
PTEN phosphatase and tensin homolog
PYCR1 pyrroline-5-carboxylate reductase 1
RTEL1 regulator of telomere elongation helicase 1
RUNX2 runt-related transcription factor 2
SCARB2 scavenger receptor class B, member 2
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
SEMA5A sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
SMS spermine synthase
SNX10 sorting nexin 10
SOX10 SRY (sex determining region Y)-box 10
SOX9 SRY (sex determining region Y)-box 9
SPRY4 sprouty homolog 4 (Drosophila)
SQSTM1 sequestosome 1
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
TACR3 tachykinin receptor 3
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TERC telomerase RNA component
TERT telomerase reverse transcriptase
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TRIP11 thyroid hormone receptor interactor 11
UROS uroporphyrinogen III synthase
USB1 U6 snRNA biogenesis 1
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
VPS33B vacuolar protein sorting 33 homolog B (yeast)
WDR11 WD repeat domain 11
WNT1 wingless-type MMTV integration site family, member 1
WNT3A wingless-type MMTV integration site family, member 3A
WRAP53 WD repeat containing, antisense to TP53
ZNF469 zinc finger protein 469