hammertoe Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint. (Human Phenotype Ontology, HP_0001765)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001765
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Genes

27 genes associated with the hammertoe phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AARS alanyl-tRNA synthetase
BCOR BCL6 corepressor
BMPER BMP binding endothelial regulator
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
DCAF8 DDB1 and CUL4 associated factor 8
DHCR7 7-dehydrocholesterol reductase
EGR2 early growth response 2
FBN1 fibrillin 1
GARS glycyl-tRNA synthetase
GDAP1 ganglioside induced differentiation associated protein 1
GNB4 guanine nucleotide binding protein (G protein), beta polypeptide 4
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
INF2 inverted formin, FH2 and WH2 domain containing
KIF1B kinesin family member 1B
LRSAM1 leucine rich repeat and sterile alpha motif containing 1
MFN2 mitofusin 2
MPZ myelin protein zero
MYH8 myosin, heavy chain 8, skeletal muscle, perinatal
NEFL neurofilament, light polypeptide
PLEKHG5 pleckstrin homology domain containing, family G (with RhoGef domain) member 5
PMP22 peripheral myelin protein 22
PRX periaxin
RAB7A RAB7A, member RAS oncogene family
SACS sacsin molecular chaperone
SBF2 SET binding factor 2
SPG20 spastic paraplegia 20 (Troyer syndrome)
TRPV4 transient receptor potential cation channel, subfamily V, member 4