short metatarsal Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe. (Human Phenotype Ontology, HP_0010743)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0010743
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Genes

32 genes associated with the short metatarsal phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
B3GALTL beta 1,3-galactosyltransferase-like
CANT1 calcium activated nucleotidase 1
CHSY1 chondroitin sulfate synthase 1
COL2A1 collagen, type II, alpha 1
DCHS1 dachsous cadherin-related 1
DYM dymeclin
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FAT4 FAT atypical cadherin 4
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
HDAC4 histone deacetylase 4
HOXA13 homeobox A13
HOXD13 homeobox D13
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
NPR2 natriuretic peptide receptor 2
PDE4D phosphodiesterase 4D, cAMP-specific
PHYH phytanoyl-CoA 2-hydroxylase
POC1A POC1 centriolar protein A
PORCN porcupine homolog (Drosophila)
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PTHLH parathyroid hormone-like hormone
RAB33B RAB33B, member RAS oncogene family
RBPJ recombination signal binding protein for immunoglobulin kappa J region
SALL1 spalt-like transcription factor 1
SIL1 SIL1 nucleotide exchange factor
SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
TRPS1 trichorhinophalangeal syndrome I
VPS13B vacuolar protein sorting 13 homolog B (yeast)