Limb Deformities, Congenital Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Similar Terms
Downloads & Tools


51 genes associated with the Limb Deformities, Congenital phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
ADRB2 adrenoceptor beta 2, surface
BHMT betaine--homocysteine S-methyltransferase
CAPN10 calpain 10
CHD7 chromodomain helicase DNA binding protein 7
COL9A1 collagen, type IX, alpha 1
COL9A2 collagen, type IX, alpha 2
COL9A3 collagen, type IX, alpha 3
COMP cartilage oligomeric matrix protein
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CYP26A1 cytochrome P450, family 26, subfamily A, polypeptide 1
CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide 1
EN1 engrailed homeobox 1
EPPK1 epiplakin 1
F2 coagulation factor II (thrombin)
F5 coagulation factor V (proaccelerin, labile factor)
FGF10 fibroblast growth factor 10
FGF4 fibroblast growth factor 4
FGF8 fibroblast growth factor 8 (androgen-induced)
GDF5 growth differentiation factor 5
GNB3 guanine nucleotide binding protein (G protein), beta polypeptide 3
GPR35 G protein-coupled receptor 35
GREM1 gremlin 1, DAN family BMP antagonist
GSTM1 glutathione S-transferase mu 1
GSTT1 glutathione S-transferase theta 1
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HOXD13 homeobox D13
ITGA2 integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)
LTA lymphotoxin alpha
MATN3 matrilin 3
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
NAT1 N-acetyltransferase 1 (arylamine N-acetyltransferase)
NAT2 N-acetyltransferase 2 (arylamine N-acetyltransferase)
NOS3 nitric oxide synthase 3 (endothelial cell)
NPPA natriuretic peptide A
PARP10 poly (ADP-ribose) polymerase family, member 10
PCSK5 proprotein convertase subtilisin/kexin type 5
PLEC plectin
RECQL4 RecQ protein-like 4
SALL4 spalt-like transcription factor 4
SELE selectin E
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SHH sonic hedgehog
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SPATA17 spermatogenesis associated 17
TBX3 T-box 3
TBX5 T-box 5
TCN2 transcobalamin II
TNF tumor necrosis factor
VEGFA vascular endothelial growth factor A
WNT7A wingless-type MMTV integration site family, member 7A