abnormal autopod morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the distal elements of the limb of vertebrates including the pedal or prehensile appendages (e.g. hand, foot, paw, phalanges and/or digits) (Mammalian Phenotype Ontology, MP_0000572)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000572
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Genes

244 gene mutations causing the abnormal autopod morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACAN aggrecan
ACD adrenocortical dysplasia homolog (mouse)
ACVR1 activin A receptor, type I
ADAMTS20 ADAM metallopeptidase with thrombospondin type 1 motif, 20
ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif, 5
AGRN agrin
ALKBH1 alkB, alkylation repair homolog 1 (E. coli)
ALX4 ALX homeobox 4
ANKH ANKH inorganic pyrophosphate transport regulator
APAF1 apoptotic peptidase activating factor 1
ARCN1 archain 1
ARSB arylsulfatase B
ASPH aspartate beta-hydroxylase
ATL1 atlastin GTPase 1
ATP7A ATPase, Cu++ transporting, alpha polypeptide
B9D1 B9 protein domain 1
BCLAF1 BCL2-associated transcription factor 1
BHLHA9 basic helix-loop-helix family, member a9
BMP4 bone morphogenetic protein 4
BMP7 bone morphogenetic protein 7
BMPR1B bone morphogenetic protein receptor, type IB
C2CD3 C2 calcium-dependent domain containing 3
C5ORF42 chromosome 5 open reading frame 42
CBFB core-binding factor, beta subunit
CC2D2A coiled-coil and C2 domain containing 2A
CDO1 cysteine dioxygenase type 1
CENPJ centromere protein J
CHST11 carbohydrate (chondroitin 4) sulfotransferase 11
CHSY1 chondroitin sulfate synthase 1
CHUK conserved helix-loop-helix ubiquitous kinase
CLEC16A C-type lectin domain family 16, member A
COL1A1 collagen, type I, alpha 1
COL2A1 collagen, type II, alpha 1
COL7A1 collagen, type VII, alpha 1
CRABP2 cellular retinoic acid binding protein 2
CREB3L1 cAMP responsive element binding protein 3-like 1
CREBBP CREB binding protein
CRIM1 cysteine rich transmembrane BMP regulator 1 (chordin-like)
CSF1 colony stimulating factor 1 (macrophage)
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTSK cathepsin K
CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide 1
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
DNAH11 dynein, axonemal, heavy chain 11
DNAJC24 DnaJ (Hsp40) homolog, subfamily C, member 24
DNASE1L2 deoxyribonuclease I-like 2
DOCK7 dedicator of cytokinesis 7
DPH1 diphthamide biosynthesis 1
DPY19L3 dpy-19-like 3 (C. elegans)
DRG2 developmentally regulated GTP binding protein 2
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EDA ectodysplasin A
EDAR ectodysplasin A receptor
EFNB1 ephrin-B1
EGFR epidermal growth factor receptor
EIF3C eukaryotic translation initiation factor 3, subunit C
EN1 engrailed homeobox 1
ERRFI1 ERBB receptor feedback inhibitor 1
ETV5 ets variant 5
EVX2 even-skipped homeobox 2
FBN1 fibrillin 1
FBN2 fibrillin 2
FBXW4 F-box and WD repeat domain containing 4
FGF8 fibroblast growth factor 8 (androgen-induced)
FGFR1 fibroblast growth factor receptor 1
FH fumarate hydratase
FIGN fidgetin
FKBP10 FK506 binding protein 10, 65 kDa
FKBP8 FK506 binding protein 8, 38kDa
FLVCR1 feline leukemia virus subgroup C cellular receptor 1
FMN1 formin 1
FOXC1 forkhead box C1
FRAS1 Fraser extracellular matrix complex subunit 1
FREM1 FRAS1 related extracellular matrix 1
FREM2 FRAS1 related extracellular matrix protein 2
FSTL1 follistatin-like 1
FURIN furin (paired basic amino acid cleaving enzyme)
FUZ fuzzy planar cell polarity protein
GAS1 growth arrest-specific 1
GDF5 growth differentiation factor 5
GDF6 growth differentiation factor 6
GJA1 gap junction protein, alpha 1, 43kDa
GLCE glucuronic acid epimerase
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GPC3 glypican 3
GREM1 gremlin 1, DAN family BMP antagonist
GRHL2 grainyhead-like 2 (Drosophila)
GRIP1 glutamate receptor interacting protein 1
HHAT hedgehog acyltransferase
HIVEP3 human immunodeficiency virus type I enhancer binding protein 3
HMGA2 high mobility group AT-hook 2
HOXA11 homeobox A11
HOXA13 homeobox A13
HOXC8 homeobox C8
HOXD11 homeobox D11
HOXD12 homeobox D12
HOXD13 homeobox D13
HS2ST1 heparan sulfate 2-O-sulfotransferase 1
HS6ST1 heparan sulfate 6-O-sulfotransferase 1
HSPB11 heat shock protein family B (small), member 11
IDS iduronate 2-sulfatase
IDUA iduronidase, alpha-L-
IFT122 intraflagellar transport 122
IFT140 intraflagellar transport 140
IFT172 intraflagellar transport 172
IFT57 intraflagellar transport 57
IFT80 intraflagellar transport 80
IFT88 intraflagellar transport 88
IGF2 insulin-like growth factor 2
IGF2R insulin-like growth factor 2 receptor
IHH indian hedgehog
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
INTU inturned planar cell polarity protein
IRF6 interferon regulatory factor 6
JAG2 jagged 2
KIF3A kinesin family member 3A
KIF7 kinesin family member 7
KIFAP3 kinesin-associated protein 3
KL klotho
KRT10 keratin 10, type I
KRT2 keratin 2, type II
KRT5 keratin 5, type II
KRT9 keratin 9, type I
LAMA5 laminin, alpha 5
LAMC2 laminin, gamma 2
LBR lamin B receptor
LGI4 leucine-rich repeat LGI family, member 4
LMBR1 limb development membrane protein 1
LRP4 low density lipoprotein receptor-related protein 4
LRP5 low density lipoprotein receptor-related protein 5
LRP6 low density lipoprotein receptor-related protein 6
MBD4 methyl-CpG binding domain protein 4
MDGA2 MAM domain containing glycosylphosphatidylinositol anchor 2
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MDM4 MDM4, p53 regulator
MECOM MDS1 and EVI1 complex locus
MEGF8 multiple EGF-like-domains 8
MKS1 Meckel syndrome, type 1
MTMR2 myotubularin related protein 2
MYO10 myosin X
NABP2 nucleic acid binding protein 2
NCOA6 nuclear receptor coactivator 6
NFASC neurofascin
NGFR nerve growth factor receptor
NIPBL Nipped-B homolog (Drosophila)
NOS3 nitric oxide synthase 3 (endothelial cell)
NOV nephroblastoma overexpressed
NPR2 natriuretic peptide receptor 2
NPR3 natriuretic peptide receptor 3
NSDHL NAD(P) dependent steroid dehydrogenase-like
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
NUBP1 nucleotide binding protein 1
OTOP3 otopetrin 3
PAX1 paired box 1
PAX9 paired box 9
PC pyruvate carboxylase
PCSK5 proprotein convertase subtilisin/kexin type 5
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PHGDH phosphoglycerate dehydrogenase
PITX1 paired-like homeodomain 1
PLAGL1 pleiomorphic adenoma gene-like 1
PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific)
PORCN porcupine homolog (Drosophila)
PRDM1 PR domain containing 1, with ZNF domain
PRG4 proteoglycan 4
PSTPIP2 proline-serine-threonine phosphatase interacting protein 2
PTCH1 patched 1
PTK7 protein tyrosine kinase 7 (inactive)
PTPN6 protein tyrosine phosphatase, non-receptor type 6
RAB23 RAB23, member RAS oncogene family
RAI1 retinoic acid induced 1
RARA retinoic acid receptor, alpha
RDH10 retinol dehydrogenase 10 (all-trans)
RECK reversion-inducing-cysteine-rich protein with kazal motifs
RECQL4 RecQ protein-like 4
RFNG RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
RIPK4 receptor-interacting serine-threonine kinase 4
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPGRIP1L RPGRIP1-like
RPL24 ribosomal protein L24
RPL27A ribosomal protein L27a
RPL38 ribosomal protein L38
RPS19 ribosomal protein S19
RPS20 ribosomal protein S20
RSPO2 R-spondin 2
RUNX2 runt-related transcription factor 2
RXRA retinoid X receptor, alpha
SALL1 spalt-like transcription factor 1
SALL4 spalt-like transcription factor 4
SC5D sterol-C5-desaturase
SDCCAG8 serologically defined colon cancer antigen 8
SFN stratifin
SFRP2 secreted frizzled-related protein 2
SHH sonic hedgehog
SKI SKI proto-oncogene
SMAD3 SMAD family member 3
SMOC1 SPARC related modular calcium binding 1
SOX11 SRY (sex determining region Y)-box 11
SOX8 SRY (sex determining region Y)-box 8
SP3 Sp3 transcription factor
SP6 Sp6 transcription factor
SP8 Sp8 transcription factor
SPRY4 sprouty homolog 4 (Drosophila)
SYK spleen tyrosine kinase
TBC1D32 TBC1 domain family, member 32
TBX15 T-box 15
TBX2 T-box 2
TBX3 T-box 3
TBX4 T-box 4
TBX5 T-box 5
TCF7 transcription factor 7 (T-cell specific, HMG-box)
TCF7L1 transcription factor 7-like 1 (T-cell specific, HMG-box)
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TCTN1 tectonic family member 1
TCTN2 tectonic family member 2
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
TMEM107 transmembrane protein 107
TMEM231 transmembrane protein 231
TMPO thymopoietin
TP53 tumor protein p53
TP63 tumor protein p63
TRAF3IP1 TNF receptor-associated factor 3 interacting protein 1
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
TRIB3 tribbles pseudokinase 3
TTC21B tetratricopeptide repeat domain 21B
TULP3 tubby like protein 3
TWIST1 twist family bHLH transcription factor 1
WDPCP WD repeat containing planar cell polarity effector
WDR19 WD repeat domain 19
WDR35 WD repeat domain 35
WNT5A wingless-type MMTV integration site family, member 5A
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
ZIC2 Zic family member 2