abnormality of the tarsal bones Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the tarsus are the cluster of seven bones in the foot between the tibia and fibula and the metatarsus, including the calcaneus (heel) bone and the talus (ankle) bone. (Human Phenotype Ontology, HP_0001850)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001850
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Genes

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

Symbol Name
ANOS1 anosmin 1
ARID1B AT rich interactive domain 1B (SWI1-like)
ATP7A ATPase, Cu++ transporting, alpha polypeptide
BMPR1B bone morphogenetic protein receptor, type IB
CANT1 calcium activated nucleotidase 1
CCDC8 coiled-coil domain containing 8
CHD7 chromodomain helicase DNA binding protein 7
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CHSY1 chondroitin sulfate synthase 1
COL11A2 collagen, type XI, alpha 2
COL1A2 collagen, type I, alpha 2
COL2A1 collagen, type II, alpha 1
CUL7 cullin 7
DOK7 docking protein 7
DUSP6 dual specificity phosphatase 6
EBP emopamil binding protein (sterol isomerase)
ECEL1 endothelin converting enzyme-like 1
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
EMG1 EMG1 N1-specific pseudouridine methyltransferase
ERCC1 excision repair cross-complementation group 1
ERCC2 excision repair cross-complementation group 2
ERCC6 excision repair cross-complementation group 6
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FAM111A family with sequence similarity 111, member A
FBLN1 fibulin 1
FEZF1 FEZ family zinc finger 1
FGF17 fibroblast growth factor 17
FGF8 fibroblast growth factor 8 (androgen-induced)
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FLNA filamin A, alpha
FLNB filamin B, beta
FLRT3 fibronectin leucine rich transmembrane protein 3
FNBP4 formin binding protein 4
GDF5 growth differentiation factor 5
HDAC6 histone deacetylase 6
HESX1 HESX homeobox 1
HOXA13 homeobox A13
HOXD10 homeobox D10
HS6ST1 heparan sulfate 6-O-sulfotransferase 1
IL17RD interleukin 17 receptor D
KISS1R KISS1 receptor
LBR lamin B receptor
LMBR1 limb development membrane protein 1
LMNA lamin A/C
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MATN3 matrilin 3
MIPOL1 mirror-image polydactyly 1
MKKS McKusick-Kaufman syndrome
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP2 matrix metallopeptidase 2
MYBPC1 myosin binding protein C, slow type
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
NOG noggin
NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor
OBSL1 obscurin-like 1
OFD1 oral-facial-digital syndrome 1
PEX1 peroxisomal biogenesis factor 1
PHEX phosphate regulating endopeptidase homolog, X-linked
PHGDH phosphoglycerate dehydrogenase
POR P450 (cytochrome) oxidoreductase
PROK2 prokineticin 2
PROKR2 prokineticin receptor 2
PTH1R parathyroid hormone 1 receptor
RAPSN receptor-associated protein of the synapse
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
SETBP1 SET binding protein 1
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLC35D1 solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
SLCO5A1 solute carrier organic anion transporter family, member 5A1
SMOC1 SPARC related modular calcium binding 1
SOX10 SRY (sex determining region Y)-box 10
SPRY4 sprouty homolog 4 (Drosophila)
SULF1 sulfatase 1
TACR3 tachykinin receptor 3
TNNI2 troponin I type 2 (skeletal, fast)
TNNT3 troponin T type 3 (skeletal, fast)
TPM2 tropomyosin 2 (beta)
VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
VPS33B vacuolar protein sorting 33 homolog B (yeast)
WDR11 WD repeat domain 11
WNT7A wingless-type MMTV integration site family, member 7A
WRN Werner syndrome, RecQ helicase-like
ZMPSTE24 zinc metallopeptidase STE24