Split-Hand/Foot Malformation Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C1838652
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Genes

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

Symbol Name
ANOS1 anosmin 1
BHLHA9 basic helix-loop-helix family, member a9
BTRC beta-transducin repeat containing E3 ubiquitin protein ligase
CDH3 cadherin 3, type 1, P-cadherin (placental)
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CISD3 CDGSH iron sulfur domain 3
CKAP4 cytoskeleton-associated protein 4
DLX3 distal-less homeobox 3
DLX5 distal-less homeobox 5
DLX6 distal-less homeobox 6
EVX2 even-skipped homeobox 2
FBXO8 F-box protein 8
FBXW4 F-box and WD repeat domain containing 4
FGF8 fibroblast growth factor 8 (androgen-induced)
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
GLI2 GLI family zinc finger 2
GRB2 growth factor receptor-bound protein 2
IGF2 insulin-like growth factor 2
INHBB inhibin, beta B
INSIG2 insulin induced gene 2
JAG2 jagged 2
LRP6 low density lipoprotein receptor-related protein 6
MID1 midline 1
NOTCH1 notch 1
PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1
PORCN porcupine homolog (Drosophila)
QTRT1 queuine tRNA-ribosyltransferase 1
RAC1 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)
RALB v-ral simian leukemia viral oncogene homolog B
RANGAP1 Ran GTPase activating protein 1
RPE65 retinal pigment epithelium-specific protein 65kDa
RUNX2 runt-related transcription factor 2
SHFM1 split hand/foot malformation (ectrodactyly) type 1
SHH sonic hedgehog
SNX3 sorting nexin 3
SPEN spen family transcriptional repressor
SUFU suppressor of fused homolog (Drosophila)
SUMO2 small ubiquitin-like modifier 2
TP53 tumor protein p53
TP63 tumor protein p63
UBA2 ubiquitin-like modifier activating enzyme 2
UBE2I ubiquitin-conjugating enzyme E2I
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