toe syndactyly Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are revered to as bony Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are refered to as Symphalangism. (Human Phenotype Ontology, HP_0001770)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001770
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Genes

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

Symbol Name
ARHGAP31 Rho GTPase activating protein 31
B3GALTL beta 1,3-galactosyltransferase-like
BCOR BCL6 corepressor
BCR breakpoint cluster region
BMP2 bone morphogenetic protein 2
BMP4 bone morphogenetic protein 4
BMPR1B bone morphogenetic protein receptor, type IB
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
CD96 CD96 molecule
CLCF1 cardiotrophin-like cytokine factor 1
COL7A1 collagen, type VII, alpha 1
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CUL4B cullin 4B
DDX11 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
DHCR7 7-dehydrocholesterol reductase
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EFNB1 ephrin-B1
ERCC4 excision repair cross-complementation group 4
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
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FIG4 FIG4 phosphoinositide 5-phosphatase
FLII flightless I homolog (Drosophila)
FLNA filamin A, alpha
FNBP4 formin binding protein 4
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
GDF5 growth differentiation factor 5
GJA1 gap junction protein, alpha 1, 43kDa
GLI3 GLI family zinc finger 3
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GPC3 glypican 3
GPC4 glypican 4
GRIP1 glutamate receptor interacting protein 1
HDAC4 histone deacetylase 4
HDAC8 histone deacetylase 8
HOXD13 homeobox D13
IFT140 intraflagellar transport 140
IFT172 intraflagellar transport 172
IFT80 intraflagellar transport 80
IRF6 interferon regulatory factor 6
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KCTD1 potassium channel tetramerization domain containing 1
KIF7 kinesin family member 7
LAMA3 laminin, alpha 3
LAMB3 laminin, beta 3
LAMC2 laminin, gamma 2
LIG4 ligase IV, DNA, ATP-dependent
LMBR1 limb development membrane protein 1
LRP4 low density lipoprotein receptor-related protein 4
MAPK1 mitogen-activated protein kinase 1
MEF2C myocyte enhancer factor 2C
MIPOL1 mirror-image polydactyly 1
MMP1 matrix metallopeptidase 1
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYH8 myosin, heavy chain 8, skeletal muscle, perinatal
NIPBL Nipped-B homolog (Drosophila)
NOG noggin
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
PALB2 partner and localizer of BRCA2
PHGDH phosphoglycerate dehydrogenase
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PORCN porcupine homolog (Drosophila)
PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C)
PVRL4 poliovirus receptor-related 4
RAB23 RAB23, 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
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
SC5D sterol-C5-desaturase
SF3B4 splicing factor 3b, subunit 4, 49kDa
SHANK3 SH3 and multiple ankyrin repeat domains 3
SHH sonic hedgehog
SIX6 SIX homeobox 6
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLX4 SLX4 structure-specific endonuclease subunit
SMAD4 SMAD family member 4
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SMOC1 SPARC related modular calcium binding 1
TBX15 T-box 15
TBX22 T-box 22
TCTN3 tectonic family member 3
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
TP63 tumor protein p63
TTC21B tetratricopeptide repeat domain 21B
TWIST1 twist family bHLH transcription factor 1
WDR19 WD repeat domain 19
WDR34 WD repeat domain 34
WDR60 WD repeat domain 60
WNT10B wingless-type MMTV integration site family, member 10B
WNT7A wingless-type MMTV integration site family, member 7A