abnormality of the metatarsal bones Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Abnormalities of the metatarsal bones (i.e. of five tubular bones located between the tarsal bones of the hind- and mid-foot and the phalanges of the toes). (Human Phenotype Ontology, HP_0001832)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001832
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Genes

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

Symbol Name
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ABCD3 ATP-binding cassette, sub-family D (ALD), member 3
ACVR1 activin A receptor, type I
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GALTL beta 1,3-galactosyltransferase-like
B3GAT3 beta-1,3-glucuronyltransferase 3
CANT1 calcium activated nucleotidase 1
CHSY1 chondroitin sulfate synthase 1
COL2A1 collagen, type II, alpha 1
DCHS1 dachsous cadherin-related 1
DDR2 discoidin domain receptor tyrosine kinase 2
DHCR7 7-dehydrocholesterol reductase
DYM dymeclin
ERCC6 excision repair cross-complementation group 6
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FAT4 FAT atypical cadherin 4
FBLN1 fibulin 1
FBN1 fibrillin 1
FBN2 fibrillin 2
FGF9 fibroblast growth factor 9
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FLNA filamin A, alpha
FLNB filamin B, beta
GDF5 growth differentiation factor 5
GNAS GNAS complex locus
GUSB glucuronidase, beta
HDAC4 histone deacetylase 4
HOXA13 homeobox A13
HOXD13 homeobox D13
IHH indian hedgehog
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
LIG4 ligase IV, DNA, ATP-dependent
LMBR1 limb development membrane protein 1
LRP5 low density lipoprotein receptor-related protein 5
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MMP2 matrix metallopeptidase 2
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
MYH8 myosin, heavy chain 8, skeletal muscle, perinatal
NPR2 natriuretic peptide receptor 2
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
PDE4D phosphodiesterase 4D, cAMP-specific
PEX1 peroxisomal biogenesis factor 1
PEX5 peroxisomal biogenesis factor 5
PHYH phytanoyl-CoA 2-hydroxylase
POC1A POC1 centriolar protein A
PORCN porcupine homolog (Drosophila)
PRG4 proteoglycan 4
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PTHLH parathyroid hormone-like hormone
RAB23 RAB23, member RAS oncogene family
RAB33B RAB33B, member RAS oncogene family
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RBPJ recombination signal binding protein for immunoglobulin kappa J region
SALL1 spalt-like transcription factor 1
SHOX short stature homeobox
SIL1 SIL1 nucleotide exchange factor
SKI SKI proto-oncogene
SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
TNNI2 troponin I type 2 (skeletal, fast)
TNNT3 troponin T type 3 (skeletal, fast)
TP63 tumor protein p63
TPM2 tropomyosin 2 (beta)
TRPS1 trichorhinophalangeal syndrome I
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TWIST1 twist family bHLH transcription factor 1
VPS13B vacuolar protein sorting 13 homolog B (yeast)
WNT7A wingless-type MMTV integration site family, member 7A
ZBTB20 zinc finger and BTB domain containing 20