2-3 toe syndactyly Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Syndactyly with fusion of toes two and three. (Human Phenotype Ontology, HP_0004691)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0004691
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Genes

22 genes associated with the 2-3 toe syndactyly phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
BCOR BCL6 corepressor
BMP2 bone morphogenetic protein 2
BMPR1B bone morphogenetic protein receptor, type IB
CLCF1 cardiotrophin-like cytokine factor 1
DDX11 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
DHCR7 7-dehydrocholesterol reductase
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
GDF5 growth differentiation factor 5
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
KCTD1 potassium channel tetramerization domain containing 1
LMBR1 limb development membrane protein 1
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
NIPBL Nipped-B homolog (Drosophila)
NOG noggin
RBPJ recombination signal binding protein for immunoglobulin kappa J region
SALL1 spalt-like transcription factor 1
SHANK3 SH3 and multiple ankyrin repeat domains 3
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SMAD4 SMAD family member 4
TBX15 T-box 15
TP63 tumor protein p63