Split Foot Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet. (Human Phenotype Ontology, HP_0001839)
External Link https://www.disgenet.org/browser/0/1/0/C2910315
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Genes

73 genes associated with the disease Split Foot in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
AKT1 v-akt murine thymoma viral oncogene homolog 1
ANOS1 anosmin 1
AR androgen receptor
BHLHA9 basic helix-loop-helix family, member a9
BRAF B-Raf proto-oncogene, serine/threonine kinase
CCL18 chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated)
CD163 CD163 molecule
CD19 CD19 molecule
CD1A CD1a molecule
CD274 CD274 molecule
CD68 CD68 molecule
CDH3 cadherin 3, type 1, P-cadherin (placental)
CKAP4 cytoskeleton-associated protein 4
CLEC1B C-type lectin domain family 1, member B
DLX5 distal-less homeobox 5
DLX6 distal-less homeobox 6
DYNC1I1 dynein, cytoplasmic 1, intermediate chain 1
ECD ecdysoneless homolog (Drosophila)
EGFR epidermal growth factor receptor
EP300 E1A binding protein p300
EPHB2 EPH receptor B2
EPS15L1 epidermal growth factor receptor pathway substrate 15-like 1
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
HDGF hepatoma-derived growth factor
IFNA1 interferon, alpha 1
IFNA13 interferon, alpha 13
IGF2 insulin-like growth factor 2
IL1A interleukin 1, alpha
IL1B interleukin 1, beta
IL6 interleukin 6
INHBB inhibin, beta B
INSIG2 insulin induced gene 2
JAG2 jagged 2
KRAS Kirsten rat sarcoma viral oncogene homolog
LMTK2 lemur tyrosine kinase 2
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K7 mitogen-activated protein kinase kinase 7
MAP3K20 mitogen-activated protein kinase kinase kinase 20
MAPK1 mitogen-activated protein kinase 1
MID1 midline 1
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
OCM oncomodulin
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PHF20 PHD finger protein 20
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PLAA phospholipase A2-activating protein
PORCN porcupine homolog (Drosophila)
PRKCD protein kinase C, delta
QTRT1 queuine tRNA-ribosyltransferase 1
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RANGAP1 Ran GTPase activating protein 1
ROS1 ROS proto-oncogene 1 , receptor tyrosine kinase
RPE65 retinal pigment epithelium-specific protein 65kDa
S100A1 S100 calcium binding protein A1
S100B S100 calcium binding protein B
SHFM1 split hand/foot malformation (ectrodactyly) type 1
SNX3 sorting nexin 3
SPP1 secreted phosphoprotein 1
TGFB1 transforming growth factor, beta 1
TNF tumor necrosis factor
TP53 tumor protein p53
TP63 tumor protein p63
UGT8 UDP glycosyltransferase 8
USP14 ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)
UVRAG UV radiation resistance associated
WNT10B wingless-type MMTV integration site family, member 10B
ZHX2 zinc fingers and homeoboxes 2