Toe Syndactyly Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
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 https://www.disgenet.org/browser/0/1/0/C4021234
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Genes

89 genes associated with the disease Toe Syndactyly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
ACSL4 acyl-CoA synthetase long-chain family member 4
ADNP activity-dependent neuroprotector homeobox
AGTR2 angiotensin II receptor, type 2
ALG13 ALG13, UDP-N-acetylglucosaminyltransferase subunit
ARCN1 archain 1
ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6
ARX aristaless related homeobox
BCOR BCL6 corepressor
BHLHA9 basic helix-loop-helix family, member a9
BMP2 bone morphogenetic protein 2
BMPR1B bone morphogenetic protein receptor, type IB
CDC45 cell division cycle 45
CDKL5 cyclin-dependent kinase-like 5
CEP55 centrosomal protein 55kDa
CERT1 ceramide transporter 1
CKAP2L cytoskeleton associated protein 2-like
CLCF1 cardiotrophin-like cytokine factor 1
CLCN4 chloride channel, voltage-sensitive 4
CNKSR2 connector enhancer of kinase suppressor of Ras 2
DDX11 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
DEAF1 DEAF1 transcription factor
DHCR7 7-dehydrocholesterol reductase
DLG3 discs, large homolog 3 (Drosophila)
DMD dystrophin
EBP emopamil binding protein (sterol isomerase)
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FRMPD4 FERM and PDZ domain containing 4
FTSJ1 FtsJ RNA methyltransferase homolog 1 (E. coli)
GDF5 growth differentiation factor 5
GDI1 GDP dissociation inhibitor 1
GJA1 gap junction protein, alpha 1, 43kDa
GLI3 GLI family zinc finger 3
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
HCFC1 host cell factor C1
HOXD13 homeobox D13
HUWE1 HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
IFT38 intraflagellar transport 38
IL1RAPL1 interleukin 1 receptor accessory protein-like 1
IQSEC2 IQ motif and Sec7 domain 2
KCTD1 potassium channel tetramerization domain containing 1
KYNU kynureninase
LMBR1 limb development membrane protein 1
MAN1B1 mannosidase, alpha, class 1B, member 1
MECP2 methyl CpG binding protein 2
MED12 mediator complex subunit 12
MEIS2 Meis homeobox 2
MID2 midline 2
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
NEDD4L neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase
NIPBL Nipped-B homolog (Drosophila)
NOG noggin
PAK3 p21 protein (Cdc42/Rac)-activated kinase 3
PHF6 PHD finger protein 6
PIGY phosphatidylinositol glycan anchor biosynthesis, class Y
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
PTCH1 patched 1
PTCHD1 patched domain containing 1
RAB39B RAB39B, member RAS oncogene family
RAD51 RAD51 recombinase
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RHOBTB2 Rho-related BTB domain containing 2
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
SALL1 spalt-like transcription factor 1
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SETD5 SET domain containing 5
SHANK3 SH3 and multiple ankyrin repeat domains 3
SIK3 SIK family kinase 3
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC9A7 solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7
SMAD4 SMAD family member 4
SOX5 SRY (sex determining region Y)-box 5
SPATA5 spermatogenesis associated 5
STEEP1 STING1 ER exit protein 1
SYNGAP1 synaptic Ras GTPase activating protein 1
SYP synaptophysin
TBX15 T-box 15
TP63 tumor protein p63
TRIO trio Rho guanine nucleotide exchange factor
TSPAN7 tetraspanin 7
TXNL4A thioredoxin-like 4A
UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast)
USP27X ubiquitin specific peptidase 27, X-linked
USP9X ubiquitin specific peptidase 9, X-linked
ZNF41 zinc finger protein 41
ZNF711 zinc finger protein 711
ZNF81 zinc finger protein 81