aplasia/hypoplasia of toe Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Absence or hypoplasia of toes. (Human Phenotype Ontology, HP_0001991)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001991
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Genes

106 genes associated with the aplasia/hypoplasia of 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
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
ADAMTSL2 ADAMTS-like 2
ALOX12B arachidonate 12-lipoxygenase, 12R type
ARHGAP31 Rho GTPase activating protein 31
ASXL1 additional sex combs like transcriptional regulator 1
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GALTL beta 1,3-galactosyltransferase-like
BMP2 bone morphogenetic protein 2
BMP4 bone morphogenetic protein 4
BMPR1B bone morphogenetic protein receptor, type IB
C12ORF57 chromosome 12 open reading frame 57
CDKL5 cyclin-dependent kinase-like 5
COL2A1 collagen, type II, alpha 1
COMP cartilage oligomeric matrix protein
CTSK cathepsin K
CUL4B cullin 4B
DHCR7 7-dehydrocholesterol reductase
DOCK6 dedicator of cytokinesis 6
DOLK dolichol kinase
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
FAM111A family with sequence similarity 111, member A
FBN1 fibrillin 1
FGD1 FYVE, RhoGEF and PH domain containing 1
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FIG4 FIG4 phosphoinositide 5-phosphatase
FLNA filamin A, alpha
FOXG1 forkhead box G1
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GDF5 growth differentiation factor 5
GHR growth hormone receptor
GJA1 gap junction protein, alpha 1, 43kDa
GNAS GNAS complex locus
GPC3 glypican 3
GPC4 glypican 4
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HDAC4 histone deacetylase 4
HDAC6 histone deacetylase 6
HDAC8 histone deacetylase 8
HOXA13 homeobox A13
HOXD13 homeobox D13
IFT122 intraflagellar transport 122
IFT140 intraflagellar transport 140
IFT172 intraflagellar transport 172
IFT80 intraflagellar transport 80
IHH indian hedgehog
IMPAD1 inositol monophosphatase domain containing 1
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8
KMT2A lysine (K)-specific methyltransferase 2A
LMBR1 limb development membrane protein 1
LTBP2 latent transforming growth factor beta binding protein 2
MECP2 methyl CpG binding protein 2
MGP matrix Gla protein
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
NIPBL Nipped-B homolog (Drosophila)
NOG noggin
NOTCH1 notch 1
NOTCH2 notch 2
NPR2 natriuretic peptide receptor 2
NTNG1 netrin G1
OFD1 oral-facial-digital syndrome 1
PDE4D phosphodiesterase 4D, cAMP-specific
PHF6 PHD finger protein 6
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIGV phosphatidylinositol glycan anchor biosynthesis, class V
PORCN porcupine homolog (Drosophila)
PRDM16 PR domain containing 16
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAD21 RAD21 homolog (S. pombe)
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RIPK4 receptor-interacting serine-threonine kinase 4
RMRP RNA component of mitochondrial RNA processing endoribonuclease
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
SHOX short stature homeobox
SIX6 SIX homeobox 6
SKI SKI proto-oncogene
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLCO5A1 solute carrier organic anion transporter family, member 5A1
SMAD4 SMAD family member 4
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SMOC1 SPARC related modular calcium binding 1
SOX9 SRY (sex determining region Y)-box 9
SULF1 sulfatase 1
TBX22 T-box 22
TBX3 T-box 3
TRIP11 thyroid hormone receptor interactor 11
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TTC21B tetratricopeptide repeat domain 21B
WDR19 WD repeat domain 19
WDR34 WD repeat domain 34
WDR35 WD repeat domain 35
WDR60 WD repeat domain 60
WNT10B wingless-type MMTV integration site family, member 10B
WNT7A wingless-type MMTV integration site family, member 7A