abnormal limb bud morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the mesenchymal outgrowth on the lateral trunk of the embryo that develops into the limbs (Mammalian Phenotype Ontology, MP_0005650)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0005650
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Genes

60 gene mutations causing the abnormal limb bud morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ALDH1A2 aldehyde dehydrogenase 1 family, member A2
ALX4 ALX homeobox 4
BMP7 bone morphogenetic protein 7
CCNF cyclin F
CHUK conserved helix-loop-helix ubiquitous kinase
CSNK2A1 casein kinase 2, alpha 1 polypeptide
DKK1 dickkopf WNT signaling pathway inhibitor 1
EN1 engrailed homeobox 1
FGF10 fibroblast growth factor 10
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FN1 fibronectin 1
FUZ fuzzy planar cell polarity protein
GAS1 growth arrest-specific 1
GLI3 GLI family zinc finger 3
GPR161 G protein-coupled receptor 161
GREM1 gremlin 1, DAN family BMP antagonist
HAND1 heart and neural crest derivatives expressed 1
HAND2 heart and neural crest derivatives expressed 2
HUS1 HUS1 checkpoint homolog (S. pombe)
IFT88 intraflagellar transport 88
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
INTU inturned planar cell polarity protein
JAG2 jagged 2
KIF7 kinesin family member 7
LRP4 low density lipoprotein receptor-related protein 4
LRP6 low density lipoprotein receptor-related protein 6
MDGA2 MAM domain containing glycosylphosphatidylinositol anchor 2
MECOM MDS1 and EVI1 complex locus
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
NOG noggin
OFD1 oral-facial-digital syndrome 1
OSR1 odd-skipped related transciption factor 1
P4HA1 prolyl 4-hydroxylase, alpha polypeptide I
PBX1 pre-B-cell leukemia homeobox 1
PITX1 paired-like homeodomain 1
RAD51D RAD51 paralog D
RDH10 retinol dehydrogenase 10 (all-trans)
RECK reversion-inducing-cysteine-rich protein with kazal motifs
RPGRIP1L RPGRIP1-like
RSPO2 R-spondin 2
SALL4 spalt-like transcription factor 4
SFN stratifin
SHH sonic hedgehog
SIRT1 sirtuin 1
SMO smoothened, frizzled class receptor
SP8 Sp8 transcription factor
STIP1 stress-induced phosphoprotein 1
T T, brachyury homolog (mouse)
TBX15 T-box 15
TBX3 T-box 3
TBX4 T-box 4
TCF7L1 transcription factor 7-like 1 (T-cell specific, HMG-box)
TCTN2 tectonic family member 2
TMEM107 transmembrane protein 107
TP63 tumor protein p63
VCL vinculin
VEGFA vascular endothelial growth factor A
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
WDR19 WD repeat domain 19