abnormal limb development Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomaly in the formation of the limbs (Mammalian Phenotype Ontology, MP_0006279)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0006279
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Genes

101 gene mutations causing the abnormal limb development phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACAN aggrecan
ALDH1A2 aldehyde dehydrogenase 1 family, member A2
ALX4 ALX homeobox 4
B9D2 B9 protein domain 2
BHLHA9 basic helix-loop-helix family, member a9
BMP7 bone morphogenetic protein 7
BMPR1B bone morphogenetic protein receptor, type IB
CCNF cyclin F
CHD7 chromodomain helicase DNA binding protein 7
CHUK conserved helix-loop-helix ubiquitous kinase
CSNK2A1 casein kinase 2, alpha 1 polypeptide
CYP26A1 cytochrome P450, family 26, subfamily A, polypeptide 1
DACT1 dishevelled-binding antagonist of beta-catenin 1
DKK1 dickkopf WNT signaling pathway inhibitor 1
EN1 engrailed homeobox 1
FBN2 fibrillin 2
FGF10 fibroblast growth factor 10
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FLVCR1 feline leukemia virus subgroup C cellular receptor 1
FN1 fibronectin 1
FUZ fuzzy planar cell polarity protein
GAS1 growth arrest-specific 1
GDF5 growth differentiation factor 5
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
HOXA13 homeobox A13
HOXD13 homeobox D13
HUS1 HUS1 checkpoint homolog (S. pombe)
IFT122 intraflagellar transport 122
IFT88 intraflagellar transport 88
IHH indian hedgehog
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
INTU inturned planar cell polarity protein
IRF6 interferon regulatory factor 6
ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)
JAG2 jagged 2
KIF3A kinesin family member 3A
KIF7 kinesin family member 7
KIFAP3 kinesin-associated protein 3
LMX1B LIM homeobox transcription factor 1, beta
LRP4 low density lipoprotein receptor-related protein 4
LRP6 low density lipoprotein receptor-related protein 6
MAP4K4 mitogen-activated protein kinase kinase kinase kinase 4
MBD4 methyl-CpG binding domain protein 4
MDGA2 MAM domain containing glycosylphosphatidylinositol anchor 2
MECOM MDS1 and EVI1 complex locus
MED31 mediator complex subunit 31
MEGF8 multiple EGF-like-domains 8
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
NABP2 nucleic acid binding protein 2
NOG noggin
OFD1 oral-facial-digital syndrome 1
OSR1 odd-skipped related transciption factor 1
P4HA1 prolyl 4-hydroxylase, alpha polypeptide I
PAX9 paired box 9
PBX1 pre-B-cell leukemia homeobox 1
PITX1 paired-like homeodomain 1
POR P450 (cytochrome) oxidoreductase
PSEN1 presenilin 1
PTK2 protein tyrosine kinase 2
RAB23 RAB23, member RAS oncogene family
RAD51D RAD51 paralog D
RDH10 retinol dehydrogenase 10 (all-trans)
RECK reversion-inducing-cysteine-rich protein with kazal motifs
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPGRIP1L RPGRIP1-like
RSPO2 R-spondin 2
RUNX2 runt-related transcription factor 2
SALL4 spalt-like transcription factor 4
SC5D sterol-C5-desaturase
SFN stratifin
SFRP2 secreted frizzled-related protein 2
SHH sonic hedgehog
SIRT1 sirtuin 1
SLC39A1 solute carrier family 39 (zinc transporter), member 1
SLC39A2 solute carrier family 39 (zinc transporter), member 2
SMO smoothened, frizzled class receptor
SMOC1 SPARC related modular calcium binding 1
SOX9 SRY (sex determining region Y)-box 9
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
TDG thymine-DNA glycosylase
TMEM107 transmembrane protein 107
TP63 tumor protein p63
TTBK2 tau tubulin kinase 2
VCL vinculin
VEGFA vascular endothelial growth factor A
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
WDR19 WD repeat domain 19
WNT3A wingless-type MMTV integration site family, member 3A
WNT7A wingless-type MMTV integration site family, member 7A