flexion contracture of toe Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description One or more bent (flexed) toe joints that cannot be straightened actively or passively. (Human Phenotype Ontology, HP_0005830)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0005830
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Genes

29 genes associated with the flexion contracture of toe phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AMER1 APC membrane recruitment protein 1
BCOR BCL6 corepressor
CAV1 caveolin 1, caveolae protein, 22kDa
CCR6 chemokine (C-C motif) receptor 6
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CTGF connective tissue growth factor
ERCC1 excision repair cross-complementation group 1
FBN1 fibrillin 1
FGFR3 fibroblast growth factor receptor 3
FLNA filamin A, alpha
GLI3 GLI family zinc finger 3
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HSPG2 heparan sulfate proteoglycan 2
IRF5 interferon regulatory factor 5
KIAA0319L KIAA0319-like
LIFR leukemia inhibitory factor receptor alpha
MMP2 matrix metallopeptidase 2
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
NOD2 nucleotide-binding oligomerization domain containing 2
PEX7 peroxisomal biogenesis factor 7
PHF6 PHD finger protein 6
PHYH phytanoyl-CoA 2-hydroxylase
PIEZO2 piezo-type mechanosensitive ion channel component 2
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
SALL1 spalt-like transcription factor 1
SCARF2 scavenger receptor class F, member 2
SKI SKI proto-oncogene
TBX2 T-box 2
TBX4 T-box 4