abnormality of toe Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An anomaly of a toe. (Human Phenotype Ontology, HP_0001780)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001780
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Genes

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

Symbol Name
AARS alanyl-tRNA synthetase
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
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
AHI1 Abelson helper integration site 1
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALG3 ALG3, alpha-1,3- mannosyltransferase
ALOX12B arachidonate 12-lipoxygenase, 12R type
AMER1 APC membrane recruitment protein 1
ARHGAP31 Rho GTPase activating protein 31
ARID1B AT rich interactive domain 1B (SWI1-like)
ARL13B ADP-ribosylation factor-like 13B
ARL6 ADP-ribosylation factor-like 6
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ARX aristaless related homeobox
ASXL1 additional sex combs like transcriptional regulator 1
ATL3 atlastin GTPase 3
ATR ATR serine/threonine kinase
ATRIP ATR interacting protein
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GALTL beta 1,3-galactosyltransferase-like
B3GAT3 beta-1,3-glucuronyltransferase 3
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
B9D1 B9 protein domain 1
B9D2 B9 protein domain 2
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BBS1 Bardet-Biedl syndrome 1
BBS10 Bardet-Biedl syndrome 10
BBS12 Bardet-Biedl syndrome 12
BBS2 Bardet-Biedl syndrome 2
BBS4 Bardet-Biedl syndrome 4
BBS5 Bardet-Biedl syndrome 5
BBS7 Bardet-Biedl syndrome 7
BBS9 Bardet-Biedl syndrome 9
BCOR BCL6 corepressor
BCR breakpoint cluster region
BMP2 bone morphogenetic protein 2
BMP4 bone morphogenetic protein 4
BMPER BMP binding endothelial regulator
BMPR1B bone morphogenetic protein receptor, type IB
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
C12ORF57 chromosome 12 open reading frame 57
C5ORF42 chromosome 5 open reading frame 42
CANT1 calcium activated nucleotidase 1
CAV1 caveolin 1, caveolae protein, 22kDa
CC2D2A coiled-coil and C2 domain containing 2A
CCR6 chemokine (C-C motif) receptor 6
CD96 CD96 molecule
CDKL5 cyclin-dependent kinase-like 5
CENPJ centromere protein J
CEP152 centrosomal protein 152kDa
CEP290 centrosomal protein 290kDa
CEP41 centrosomal protein 41kDa
CHD7 chromodomain helicase DNA binding protein 7
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CLCF1 cardiotrophin-like cytokine factor 1
CLIP2 CAP-GLY domain containing linker protein 2
COL1A1 collagen, type I, alpha 1
COL2A1 collagen, type II, alpha 1
COL3A1 collagen, type III, alpha 1
COL5A1 collagen, type V, alpha 1
COL5A2 collagen, type V, alpha 2
COL7A1 collagen, type VII, alpha 1
COMP cartilage oligomeric matrix protein
COMT catechol-O-methyltransferase
COX7B cytochrome c oxidase subunit VIIb
CPT2 carnitine palmitoyltransferase 2
CREBBP CREB binding protein
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CSPP1 centrosome and spindle pole associated protein 1
CTGF connective tissue growth factor
CTSK cathepsin K
CUL4B cullin 4B
DCAF8 DDB1 and CUL4 associated factor 8
DDX11 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
DDX59 DEAD (Asp-Glu-Ala-Asp) box polypeptide 59
DHCR7 7-dehydrocholesterol reductase
DOCK6 dedicator of cytokinesis 6
DOLK dolichol kinase
DSP desmoplakin
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
DYRK1A dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
EBP emopamil binding protein (sterol isomerase)
EFNB1 ephrin-B1
EGR2 early growth response 2
EIF4A3 eukaryotic translation initiation factor 4A3
ELN elastin
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
EP300 E1A binding protein p300
ERCC1 excision repair cross-complementation group 1
ERCC4 excision repair cross-complementation group 4
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FAM111A family with sequence similarity 111, member A
FAM20C family with sequence similarity 20, member C
FAM58A family with sequence similarity 58, member A
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCF Fanconi anemia, complementation group F
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
FANCM Fanconi anemia, complementation group M
FBLN1 fibulin 1
FBN1 fibrillin 1
FGD1 FYVE, RhoGEF and PH domain containing 1
FGF10 fibroblast growth factor 10
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FIG4 FIG4 phosphoinositide 5-phosphatase
FLII flightless I homolog (Drosophila)
FLNA filamin A, alpha
FLNB filamin B, beta
FNBP4 formin binding protein 4
FOXG1 forkhead box G1
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GARS glycyl-tRNA synthetase
GATA4 GATA binding protein 4
GDAP1 ganglioside induced differentiation associated protein 1
GDF5 growth differentiation factor 5
GHR growth hormone receptor
GJA1 gap junction protein, alpha 1, 43kDa
GJB6 gap junction protein, beta 6, 30kDa
GLI3 GLI family zinc finger 3
GNAS GNAS complex locus
GNB4 guanine nucleotide binding protein (G protein), beta polypeptide 4
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GP1BB glycoprotein Ib (platelet), beta polypeptide
GPC3 glypican 3
GPC4 glypican 4
GRIP1 glutamate receptor interacting protein 1
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HDAC4 histone deacetylase 4
HDAC6 histone deacetylase 6
HDAC8 histone deacetylase 8
HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2
HIRA histone cell cycle regulator
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HOXA13 homeobox A13
HOXD13 homeobox D13
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
HRAS Harvey rat sarcoma viral oncogene homolog
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HSPB1 heat shock 27kDa protein 1
HSPB8 heat shock 22kDa protein 8
HSPG2 heparan sulfate proteoglycan 2
HYLS1 hydrolethalus syndrome 1
ICK intestinal cell (MAK-like) kinase
IFT122 intraflagellar transport 122
IFT140 intraflagellar transport 140
IFT172 intraflagellar transport 172
IFT27 intraflagellar transport 27
IFT80 intraflagellar transport 80
IHH indian hedgehog
IL11RA interleukin 11 receptor, alpha
IMPAD1 inositol monophosphatase domain containing 1
INF2 inverted formin, FH2 and WH2 domain containing
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
IRF5 interferon regulatory factor 5
IRF6 interferon regulatory factor 6
IRX5 iroquois homeobox 5
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8
KCTD1 potassium channel tetramerization domain containing 1
KIAA0319L KIAA0319-like
KIF1B kinesin family member 1B
KIF7 kinesin family member 7
KMT2A lysine (K)-specific methyltransferase 2A
KRAS Kirsten rat sarcoma viral oncogene homolog
LAMA3 laminin, alpha 3
LAMB3 laminin, beta 3
LAMC2 laminin, gamma 2
LBR lamin B receptor
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LIFR leukemia inhibitory factor receptor alpha
LIG4 ligase IV, DNA, ATP-dependent
LIMK1 LIM domain kinase 1
LMBR1 limb development membrane protein 1
LMNA lamin A/C
LRP4 low density lipoprotein receptor-related protein 4
LRSAM1 leucine rich repeat and sterile alpha motif containing 1
LTBP2 latent transforming growth factor beta binding protein 2
LTBP4 latent transforming growth factor beta binding protein 4
LZTFL1 leucine zipper transcription factor-like 1
MAPK1 mitogen-activated protein kinase 1
MBD5 methyl-CpG binding domain protein 5
MECP2 methyl CpG binding protein 2
MED12 mediator complex subunit 12
MEF2C myocyte enhancer factor 2C
MFN2 mitofusin 2
MGP matrix Gla protein
MIPOL1 mirror-image polydactyly 1
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MMP1 matrix metallopeptidase 1
MMP2 matrix metallopeptidase 2
MPST mercaptopyruvate sulfurtransferase
MPZ myelin protein zero
MTM1 myotubularin 1
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
MYH8 myosin, heavy chain 8, skeletal muscle, perinatal
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NBAS neuroblastoma amplified sequence
NEFL neurofilament, light polypeptide
NEK1 NIMA-related kinase 1
NELFA negative elongation factor complex member A
NIPBL Nipped-B homolog (Drosophila)
NOD2 nucleotide-binding oligomerization domain containing 2
NOG noggin
NOTCH1 notch 1
NOTCH2 notch 2
NPR2 natriuretic peptide receptor 2
NSD1 nuclear receptor binding SET domain protein 1
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
NTNG1 netrin G1
OFD1 oral-facial-digital syndrome 1
PALB2 partner and localizer of BRCA2
PCNT pericentrin
PDE4D phosphodiesterase 4D, cAMP-specific
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta
PEX7 peroxisomal biogenesis factor 7
PHF6 PHD finger protein 6
PHGDH phosphoglycerate dehydrogenase
PHYH phytanoyl-CoA 2-hydroxylase
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIGV phosphatidylinositol glycan anchor biosynthesis, class V
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PITX1 paired-like homeodomain 1
PLEKHG5 pleckstrin homology domain containing, family G (with RhoGef domain) member 5
PMP22 peripheral myelin protein 22
PORCN porcupine homolog (Drosophila)
PRDM16 PR domain containing 16
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PRX periaxin
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
PTEN phosphatase and tensin homolog
PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C)
PVRL4 poliovirus receptor-related 4
RAB23 RAB23, member RAS oncogene family
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAB7A RAB7A, member RAS oncogene family
RAD21 RAD21 homolog (S. pombe)
RAD51C RAD51 paralog C
RAI1 retinoic acid induced 1
RBBP8 retinoblastoma binding protein 8
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RFC2 replication factor C (activator 1) 2, 40kDa
RHBDF2 rhomboid 5 homolog 2 (Drosophila)
RIPK4 receptor-interacting serine-threonine kinase 4
RMRP RNA component of mitochondrial RNA processing endoribonuclease
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
RPGRIP1L RPGRIP1-like
SACS sacsin molecular chaperone
SALL1 spalt-like transcription factor 1
SALL4 spalt-like transcription factor 4
SATB2 SATB homeobox 2
SBF2 SET binding factor 2
SC5D sterol-C5-desaturase
SCARF2 scavenger receptor class F, member 2
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SF3B4 splicing factor 3b, subunit 4, 49kDa
SHANK3 SH3 and multiple ankyrin repeat domains 3
SHH sonic hedgehog
SHOX short stature homeobox
SIX6 SIX homeobox 6
SKI SKI proto-oncogene
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
SLCO2A1 solute carrier organic anion transporter family, member 2A1
SLCO5A1 solute carrier organic anion transporter family, member 5A1
SLX4 SLX4 structure-specific endonuclease subunit
SMAD4 SMAD family member 4
SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SMOC1 SPARC related modular calcium binding 1
SMS spermine synthase
SOX9 SRY (sex determining region Y)-box 9
SPG20 spastic paraplegia 20 (Troyer syndrome)
SULF1 sulfatase 1
SUMF1 sulfatase modifying factor 1
TBL2 transducin (beta)-like 2
TBX1 T-box 1
TBX15 T-box 15
TBX2 T-box 2
TBX22 T-box 22
TBX3 T-box 3
TBX4 T-box 4
TCF12 transcription factor 12
TCTN1 tectonic family member 1
TCTN2 tectonic family member 2
TCTN3 tectonic family member 3
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
TMCO1 transmembrane and coiled-coil domains 1
TMEM138 transmembrane protein 138
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM237 transmembrane protein 237
TMEM67 transmembrane protein 67
TP63 tumor protein p63
TRIM32 tripartite motif containing 32
TRIP11 thyroid hormone receptor interactor 11
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TTC21B tetratricopeptide repeat domain 21B
TTC8 tetratricopeptide repeat domain 8
TWIST1 twist family bHLH transcription factor 1
UBE2A ubiquitin-conjugating enzyme E2A
UBE3B ubiquitin protein ligase E3B
UFD1L ubiquitin fusion degradation 1 like (yeast)
VPS13B vacuolar protein sorting 13 homolog B (yeast)
WDPCP WD repeat containing planar cell polarity effector
WDR19 WD repeat domain 19
WDR34 WD repeat domain 34
WDR35 WD repeat domain 35
WDR60 WD repeat domain 60
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WNK1 WNK lysine deficient protein kinase 1
WNT10B wingless-type MMTV integration site family, member 10B
WNT5A wingless-type MMTV integration site family, member 5A
WNT7A wingless-type MMTV integration site family, member 7A
XYLT1 xylosyltransferase I
ZMPSTE24 zinc metallopeptidase STE24
ZNF423 zinc finger protein 423