syndactyly Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A synostosis that results_in the fusion of two or more digits. (Human Disease Ontology, DOID_11193)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000564
Similar Terms
Downloads & Tools

Genes

74 gene mutations causing the syndactyly phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ADAMTS20 ADAM metallopeptidase with thrombospondin type 1 motif, 20
ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif, 5
APAF1 apoptotic peptidase activating factor 1
ASPH aspartate beta-hydroxylase
BHLHA9 basic helix-loop-helix family, member a9
BMPR1B bone morphogenetic protein receptor, type IB
CENPJ centromere protein J
CHUK conserved helix-loop-helix ubiquitous kinase
COL1A1 collagen, type I, alpha 1
CRIM1 cysteine rich transmembrane BMP regulator 1 (chordin-like)
CYP51A1 cytochrome P450, family 51, subfamily A, polypeptide 1
DAD1 defender against cell death 1
DHCR7 7-dehydrocholesterol reductase
DKK1 dickkopf WNT signaling pathway inhibitor 1
DLX5 distal-less homeobox 5
DLX6 distal-less homeobox 6
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EDA ectodysplasin A
EN1 engrailed homeobox 1
FBN2 fibrillin 2
FGF8 fibroblast growth factor 8 (androgen-induced)
FGFR1 fibroblast growth factor receptor 1
FH fumarate hydratase
FMN1 formin 1
FRAS1 Fraser extracellular matrix complex subunit 1
FREM1 FRAS1 related extracellular matrix 1
FREM2 FRAS1 related extracellular matrix protein 2
FSTL1 follistatin-like 1
GAS1 growth arrest-specific 1
GDF5 growth differentiation factor 5
GJA1 gap junction protein, alpha 1, 43kDa
GLI3 GLI family zinc finger 3
GREM1 gremlin 1, DAN family BMP antagonist
GRHL2 grainyhead-like 2 (Drosophila)
GRIP1 glutamate receptor interacting protein 1
HOXA13 homeobox A13
HOXD13 homeobox D13
IFT122 intraflagellar transport 122
IRF6 interferon regulatory factor 6
JAG2 jagged 2
KIF7 kinesin family member 7
LAMA5 laminin, alpha 5
LBR lamin B receptor
LMBR1 limb development membrane protein 1
LRP4 low density lipoprotein receptor-related protein 4
MBD4 methyl-CpG binding domain protein 4
MYO10 myosin X
NOS3 nitric oxide synthase 3 (endothelial cell)
NUBP1 nucleotide binding protein 1
PAX1 paired box 1
PAX9 paired box 9
PC pyruvate carboxylase
PCSK5 proprotein convertase subtilisin/kexin type 5
PHGDH phosphoglycerate dehydrogenase
PORCN porcupine homolog (Drosophila)
PTCH1 patched 1
RARA retinoic acid receptor, alpha
RDH10 retinol dehydrogenase 10 (all-trans)
RFNG RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
RIPK4 receptor-interacting serine-threonine kinase 4
RSPO2 R-spondin 2
SALL1 spalt-like transcription factor 1
SC5D sterol-C5-desaturase
SFN stratifin
SFRP2 secreted frizzled-related protein 2
SHH sonic hedgehog
SMOC1 SPARC related modular calcium binding 1
SP6 Sp6 transcription factor
SPRY4 sprouty homolog 4 (Drosophila)
TCF7 transcription factor 7 (T-cell specific, HMG-box)
WDR35 WD repeat domain 35
WNT7A wingless-type MMTV integration site family, member 7A
ZBTB16 zinc finger and BTB domain containing 16
ZEB1 zinc finger E-box binding homeobox 1