absent toe Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Aplasia of a toe. That is, absence of all phalanges of a non-hallux digit of the foot and the associated soft tissues. (Human Phenotype Ontology, HP_0010760)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0010760
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Genes

34 genes associated with the absent toe 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
ACVR1 activin A receptor, type I
ARHGAP31 Rho GTPase activating protein 31
BMP2 bone morphogenetic protein 2
BMPR1B bone morphogenetic protein receptor, type IB
DOCK6 dedicator of cytokinesis 6
DOLK dolichol kinase
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FIG4 FIG4 phosphoinositide 5-phosphatase
FLNA filamin A, alpha
GDF5 growth differentiation factor 5
GJA1 gap junction protein, alpha 1, 43kDa
HOXA13 homeobox A13
IHH indian hedgehog
KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8
LMBR1 limb development membrane protein 1
MGP matrix Gla protein
NOG noggin
NOTCH1 notch 1
NOTCH2 notch 2
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PORCN porcupine homolog (Drosophila)
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RIPK4 receptor-interacting serine-threonine kinase 4
ROR2 receptor tyrosine kinase-like orphan receptor 2
SALL1 spalt-like transcription factor 1
SALL4 spalt-like transcription factor 4
SF3B4 splicing factor 3b, subunit 4, 49kDa
SMOC1 SPARC related modular calcium binding 1
TRPV4 transient receptor potential cation channel, subfamily V, member 4
WNT10B wingless-type MMTV integration site family, member 10B
WNT7A wingless-type MMTV integration site family, member 7A