abnormal developmental patterning Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description abnormal systematic arrangement of the developing body along an axis (Mammalian Phenotype Ontology, MP_0002084)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002084
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Genes

415 gene mutations causing the abnormal developmental patterning phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACVR1 activin A receptor, type I
ACVR1B activin A receptor, type IB
ACVR2A activin A receptor, type IIA
ACVR2B activin A receptor, type IIB
ADAM10 ADAM metallopeptidase domain 10
ALDH1A2 aldehyde dehydrogenase 1 family, member A2
ALG13 ALG13, UDP-N-acetylglucosaminyltransferase subunit
ALG5 ALG5, dolichyl-phosphate beta-glucosyltransferase
AMN amnion associated transmembrane protein
AMOT angiomotin
ANKRD11 ankyrin repeat domain 11
APC adenomatous polyposis coli
APH1A APH1A gamma secretase subunit
ARC activity-regulated cytoskeleton-associated protein
ARF4 ADP-ribosylation factor 4
ARID1A AT rich interactive domain 1A (SWI-like)
ARL13B ADP-ribosylation factor-like 13B
ARNT aryl hydrocarbon receptor nuclear translocator
ATAD3A ATPase family, AAA domain containing 3A
ATMIN ATM interactor
ATRX alpha thalassemia/mental retardation syndrome X-linked
AXIN1 axin 1
AXIN2 axin 2
B9D1 B9 protein domain 1
BARD1 BRCA1 associated RING domain 1
BCOR BCL6 corepressor
BICC1 BicC family RNA binding protein 1
BMP2 bone morphogenetic protein 2
BMP4 bone morphogenetic protein 4
BMP5 bone morphogenetic protein 5
BMP7 bone morphogenetic protein 7
BMP8B bone morphogenetic protein 8b
BMPR1A bone morphogenetic protein receptor, type IA
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase)
BPTF bromodomain PHD finger transcription factor
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
C2CD3 C2 calcium-dependent domain containing 3
CC2D2A coiled-coil and C2 domain containing 2A
CCDC160 coiled-coil domain containing 160
CCDC40 coiled-coil domain containing 40
CCNF cyclin F
CDH2 cadherin 2, type 1, N-cadherin (neuronal)
CDH5 cadherin 5, type 2 (vascular endothelium)
CDX2 caudal type homeobox 2
CEP41 centrosomal protein 41kDa
CFC1 cripto, FRL-1, cryptic family 1
CHD7 chromodomain helicase DNA binding protein 7
CHD8 chromodomain helicase DNA binding protein 8
CHMP5 charged multivesicular body protein 5
CHRD chordin
CHUK conserved helix-loop-helix ubiquitous kinase
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
CLUAP1 clusterin associated protein 1
CNBP CCHC-type zinc finger, nucleic acid binding protein
COL2A1 collagen, type II, alpha 1
COMMD1 copper metabolism (Murr1) domain containing 1
COPS2 COP9 signalosome subunit 2
COPS3 COP9 signalosome subunit 3
COPS5 COP9 signalosome subunit 5
CRB2 crumbs family member 2
CSK c-src tyrosine kinase
CSNK2A1 casein kinase 2, alpha 1 polypeptide
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTNNBIP1 catenin, beta interacting protein 1
CUBN cubilin (intrinsic factor-cobalamin receptor)
CUL1 cullin 1
CUL3 cullin 3
CUL4B cullin 4B
CYP26A1 cytochrome P450, family 26, subfamily A, polypeptide 1
CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide 1
DAB2 Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)
DACT1 dishevelled-binding antagonist of beta-catenin 1
DAD1 defender against cell death 1
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DAND5 DAN domain family member 5, BMP antagonist
DAP3 death associated protein 3
DAXX death-domain associated protein
DCTN1 dynactin 1
DDX11 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
DHX9 DEAH (Asp-Glu-Ala-His) box helicase 9
DISP1 dispatched homolog 1 (Drosophila)
DKK1 dickkopf WNT signaling pathway inhibitor 1
DLG3 discs, large homolog 3 (Drosophila)
DLL1 delta-like 1 (Drosophila)
DLL3 delta-like 3 (Drosophila)
DNAH11 dynein, axonemal, heavy chain 11
DNM1L dynamin 1-like
DNMT1 DNA (cytosine-5-)-methyltransferase 1
DPH1 diphthamide biosynthesis 1
DPH3 diphthamide biosynthesis 3
DRAP1 DR1-associated protein 1 (negative cofactor 2 alpha)
DSP desmoplakin
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
DYNC2LI1 dynein, cytoplasmic 2, light intermediate chain 1
E4F1 E4F transcription factor 1
ECSIT ECSIT signalling integrator
EFNB2 ephrin-B2
EIF4G2 eukaryotic translation initiation factor 4 gamma, 2
ELF5 E74-like factor 5 (ets domain transcription factor)
EN1 engrailed homeobox 1
ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2
EOMES eomesodermin
EP300 E1A binding protein p300
EPB41L5 erythrocyte membrane protein band 4.1 like 5
EPHA2 EPH receptor A2
EXOC4 exocyst complex component 4
EXT1 exostosin glycosyltransferase 1
EXT2 exostosin glycosyltransferase 2
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FERMT2 fermitin family member 2
FGF8 fibroblast growth factor 8 (androgen-induced)
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FKBP8 FK506 binding protein 8, 38kDa
FKTN fukutin
FLCN folliculin
FLRT3 fibronectin leucine rich transmembrane protein 3
FLT1 fms-related tyrosine kinase 1
FN1 fibronectin 1
FNTB farnesyltransferase, CAAX box, beta
FOLR1 folate receptor 1 (adult)
FOXA2 forkhead box A2
FOXB1 forkhead box B1
FOXD3 forkhead box D3
FOXF1 forkhead box F1
FOXH1 forkhead box H1
FOXJ1 forkhead box J1
FRS2 fibroblast growth factor receptor substrate 2
FURIN furin (paired basic amino acid cleaving enzyme)
FUZ fuzzy planar cell polarity protein
G3BP1 GTPase activating protein (SH3 domain) binding protein 1
G6PD glucose-6-phosphate dehydrogenase
GAS1 growth arrest-specific 1
GATA4 GATA binding protein 4
GATA6 GATA binding protein 6
GATAD2A GATA zinc finger domain containing 2A
GCLC glutamate-cysteine ligase, catalytic subunit
GDF1 growth differentiation factor 1
GDF11 growth differentiation factor 11
GDF3 growth differentiation factor 3
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
GLMN glomulin, FKBP associated protein
GLTSCR1L GLTSCR1-like
GNPNAT1 glucosamine-phosphate N-acetyltransferase 1
GPR161 G protein-coupled receptor 161
GPX4 glutathione peroxidase 4
GRB2 growth factor receptor-bound protein 2
GREM1 gremlin 1, DAN family BMP antagonist
GRHL3 grainyhead-like 3 (Drosophila)
HAND1 heart and neural crest derivatives expressed 1
HAND2 heart and neural crest derivatives expressed 2
HAS2 hyaluronan synthase 2
HDAC3 histone deacetylase 3
HES7 hes family bHLH transcription factor 7
HGS hepatocyte growth factor-regulated tyrosine kinase substrate
HHEX hematopoietically expressed homeobox
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HIRA histone cell cycle regulator
HNF1B HNF1 homeobox B
HNF4A hepatocyte nuclear factor 4, alpha
HNRNPC heterogeneous nuclear ribonucleoprotein C (C1/C2)
HNRNPU heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)
HSBP1 heat shock factor binding protein 1
HSP90B1 heat shock protein 90kDa beta (Grp94), member 1
HTT huntingtin
HUS1 HUS1 checkpoint homolog (S. pombe)
HUWE1 HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
IFT122 intraflagellar transport 122
IFT172 intraflagellar transport 172
IFT57 intraflagellar transport 57
IFT88 intraflagellar transport 88
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
ILK integrin-linked kinase
INTU inturned planar cell polarity protein
INVS inversin
IPMK inositol polyphosphate multikinase
ISL1 ISL LIM homeobox 1
ITGA5 integrin, alpha 5 (fibronectin receptor, alpha polypeptide)
ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)
JAG2 jagged 2
KAT2A K(lysine) acetyltransferase 2A
KAT7 K(lysine) acetyltransferase 7
KDM1A lysine (K)-specific demethylase 1A
KDM5C lysine (K)-specific demethylase 5C
KDM6A lysine (K)-specific demethylase 6A
KDM8 lysine (K)-specific demethylase 8
KIAA0586 KIAA0586
KIF3A kinesin family member 3A
KIF3B kinesin family member 3B
KIF5B kinesin family member 5B
KMT2A lysine (K)-specific methyltransferase 2A
KMT2B lysine (K)-specific methyltransferase 2B
KRIT1 KRIT1, ankyrin repeat containing
LAMA1 laminin, alpha 1
LAMB1 laminin, beta 1
LDB1 LIM domain binding 1
LEFTY2 left-right determination factor 2
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LHX1 LIM homeobox 1
LIAS lipoic acid synthetase
LMO2 LIM domain only 2 (rhombotin-like 1)
LMX1B LIM homeobox transcription factor 1, beta
LRP4 low density lipoprotein receptor-related protein 4
LRP6 low density lipoprotein receptor-related protein 6
MACF1 microtubule-actin crosslinking factor 1
MAP4K4 mitogen-activated protein kinase kinase kinase kinase 4
MAPK1 mitogen-activated protein kinase 1
MAX MYC associated factor X
MBD4 methyl-CpG binding domain protein 4
MBTPS1 membrane-bound transcription factor peptidase, site 1
MDFI MyoD family inhibitor
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MECOM MDS1 and EVI1 complex locus
MED12 mediator complex subunit 12
MEGF8 multiple EGF-like-domains 8
MESDC2 mesoderm development candidate 2
MESP1 mesoderm posterior basic helix-loop-helix transcription factor 1
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
METAP2 methionyl aminopeptidase 2
MGAT1 mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MGRN1 mahogunin ring finger 1, E3 ubiquitin protein ligase
MIB1 mindbomb E3 ubiquitin protein ligase 1
MIXL1 Mix paired-like homeobox
MKS1 Meckel syndrome, type 1
MLLT3 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3
MLLT4 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4
MPI mannose phosphate isomerase
MSGN1 mesogenin 1
MTHFD1L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MYC v-myc avian myelocytomatosis viral oncogene homolog
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYH9 myosin, heavy chain 9, non-muscle
MYL1 myosin, light chain 1, alkali; skeletal, fast
N6AMT1 N-6 adenine-specific DNA methyltransferase 1 (putative)
NCKAP1 NCK-associated protein 1
NCSTN nicastrin
NDUFA13 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13
NF2 neurofibromin 2 (merlin)
NFE2L1 nuclear factor, erythroid 2-like 1
NKX3-2 NK3 homeobox 2
NODAL nodal growth differentiation factor
NOG noggin
NONO non-POU domain containing, octamer-binding
NOTCH1 notch 1
NOTO notochord homeobox
NPHP3 nephronophthisis 3 (adolescent)
NR4A3 nuclear receptor subfamily 4, group A, member 3
NR5A2 nuclear receptor subfamily 5, group A, member 2
NR6A1 nuclear receptor subfamily 6, group A, member 1
NSD1 nuclear receptor binding SET domain protein 1
NUMB numb homolog (Drosophila)
NUP133 nucleoporin 133kDa
NUP98 nucleoporin 98kDa
OPA1 optic atrophy 1 (autosomal dominant)
OTUD5 OTU deubiquitinase 5
OTX2 orthodenticle homeobox 2
OVOL2 ovo-like zinc finger 2
PALB2 partner and localizer of BRCA2
PAX2 paired box 2
PAX3 paired box 3
PAXIP1 PAX interacting (with transcription-activation domain) protein 1
PBX1 pre-B-cell leukemia homeobox 1
PCSK6 proprotein convertase subtilisin/kexin type 6
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PDPK1 3-phosphoinositide dependent protein kinase 1
PELO pelota homolog (Drosophila)
PIFO primary cilia formation
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
PIK3C3 phosphatidylinositol 3-kinase, catalytic subunit type 3
PISD phosphatidylserine decarboxylase
PITX2 paired-like homeodomain 2
PKD1L1 polycystic kidney disease 1 like 1
PKD2 polycystic kidney disease 2 (autosomal dominant)
PKNOX1 PBX/knotted 1 homeobox 1
PNN pinin, desmosome associated protein
PNPLA6 patatin-like phospholipase domain containing 6
POFUT2 protein O-fucosyltransferase 2
POGLUT1 protein O-glucosyltransferase 1
POLG2 polymerase (DNA directed), gamma 2, accessory subunit
PPAP2B phosphatidic acid phosphatase type 2B
PPP1R8 protein phosphatase 1, regulatory subunit 8
PPP2CA protein phosphatase 2, catalytic subunit, alpha isozyme
PPRC1 peroxisome proliferator-activated receptor gamma, coactivator-related 1
PRICKLE1 prickle homolog 1 (Drosophila)
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PRKCI protein kinase C, iota
PROCR protein C receptor, endothelial
PSEN1 presenilin 1
PSMD4 proteasome (prosome, macropain) 26S subunit, non-ATPase, 4
PTEN phosphatase and tensin homolog
PTK2 protein tyrosine kinase 2
PTK7 protein tyrosine kinase 7 (inactive)
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPN12 protein tyrosine phosphatase, non-receptor type 12
PTPRB protein tyrosine phosphatase, receptor type, B
QKI QKI, KH domain containing, RNA binding
RAB7A RAB7A, member RAS oncogene family
RAC1 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)
RAD50 RAD50 homolog (S. cerevisiae)
RAD51 RAD51 recombinase
RAD51D RAD51 paralog D
RANGAP1 Ran GTPase activating protein 1
RAPGEF2 Rap guanine nucleotide exchange factor (GEF) 2
RASA1 RAS p21 protein activator (GTPase activating protein) 1
RBBP7 retinoblastoma binding protein 7
RBL2 retinoblastoma-like 2
RBM3 RNA binding motif (RNP1, RRM) protein 3
RDH10 retinol dehydrogenase 10 (all-trans)
RECK reversion-inducing-cysteine-rich protein with kazal motifs
REV3L REV3-like, polymerase (DNA directed), zeta, catalytic subunit
RFX3 regulatory factor X, 3 (influences HLA class II expression)
RIPPLY2 ripply transcriptional repressor 2
RNASEH2B ribonuclease H2, subunit B
RNF111 ring finger protein 111
RNF2 ring finger protein 2
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPGRIP1L RPGRIP1-like
RPS6KA6 ribosomal protein S6 kinase, 90kDa, polypeptide 6
RQCD1 RCD1 required for cell differentiation1 homolog (S. pombe)
RRN3 RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae)
RSPO2 R-spondin 2
RTEL1 regulator of telomere elongation helicase 1
RTTN rotatin
SALL4 spalt-like transcription factor 4
SBDS Shwachman-Bodian-Diamond syndrome
SCRIB scribbled planar cell polarity protein
SERPINB5 serpin peptidase inhibitor, clade B (ovalbumin), member 5
SETD1A SET domain containing 1A
SETD2 SET domain containing 2
SFN stratifin
SHH sonic hedgehog
SIX3 SIX homeobox 3
SKI SKI proto-oncogene
SLC31A1 solute carrier family 31 (copper transporter), member 1
SLC34A2 solute carrier family 34 (type II sodium/phosphate cotransporter), member 2
SMAD1 SMAD family member 1
SMAD2 SMAD family member 2
SMAD4 SMAD family member 4
SMAD5 SMAD family member 5
SMARCC1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1
SMG1 SMG1 phosphatidylinositol 3-kinase-related kinase
SMO smoothened, frizzled class receptor
SNAI1 snail family zinc finger 1
SOX17 SRY (sex determining region Y)-box 17
SOX2 SRY (sex determining region Y)-box 2
SP2 Sp2 transcription factor
SP8 Sp8 transcription factor
SPINT2 serine peptidase inhibitor, Kunitz type, 2
SRD5A3 steroid 5 alpha-reductase 3
SRF serum response factor (c-fos serum response element-binding transcription factor)
SS18 synovial sarcoma translocation, chromosome 18
SSBP3 single stranded DNA binding protein 3
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STIL SCL/TAL1 interrupting locus
STK11 serine/threonine kinase 11
STRAP serine/threonine kinase receptor associated protein
SUFU suppressor of fused homolog (Drosophila)
SUZ12 SUZ12 polycomb repressive complex 2 subunit
SYF2 SYF2 pre-mRNA-splicing factor
T T, brachyury homolog (mouse)
TAL1 T-cell acute lymphocytic leukemia 1
TBX3 T-box 3
TBX6 T-box 6
TCF15 transcription factor 15 (basic helix-loop-helix)
TCF7L1 transcription factor 7-like 1 (T-cell specific, HMG-box)
TCOF1 Treacher Collins-Franceschetti syndrome 1
TCTN1 tectonic family member 1
TCTN2 tectonic family member 2
TDG thymine-DNA glycosylase
TDGF1 teratocarcinoma-derived growth factor 1
TENM4 teneurin transmembrane protein 4
TERC telomerase RNA component
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TFAP2C transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)
TJP2 tight junction protein 2
TLN1 talin 1
TLX2 T-cell leukemia homeobox 2
TMED2 transmembrane emp24 domain trafficking protein 2
TMEM67 transmembrane protein 67
TP63 tumor protein p63
TPT1 tumor protein, translationally-controlled 1
TRAF3IP1 TNF receptor-associated factor 3 interacting protein 1
TRIM28 tripartite motif containing 28
TRIM33 tripartite motif containing 33
TSG101 tumor susceptibility 101
TSIX TSIX transcript, XIST antisense RNA
TTBK2 tau tubulin kinase 2
TXNRD1 thioredoxin reductase 1
UBR5 ubiquitin protein ligase E3 component n-recognin 5
UGCG UDP-glucose ceramide glucosyltransferase
UGDH UDP-glucose 6-dehydrogenase
UHRF1 ubiquitin-like with PHD and ring finger domains 1
USP8 ubiquitin specific peptidase 8
USP9X ubiquitin specific peptidase 9, X-linked
VANGL2 VANGL planar cell polarity protein 2
VCL vinculin
VPS26A vacuolar protein sorting 26 homolog A (S. pombe)
VPS41 vacuolar protein sorting 41 homolog (S. cerevisiae)
WASL Wiskott-Aldrich syndrome-like
WDR35 WD repeat domain 35
WLS wntless Wnt ligand secretion mediator
WNT3 wingless-type MMTV integration site family, member 3
WNT3A wingless-type MMTV integration site family, member 3A
WNT5A wingless-type MMTV integration site family, member 5A
XRCC1 X-ray repair complementing defective repair in Chinese hamster cells 1
XRCC2 X-ray repair complementing defective repair in Chinese hamster cells 2
YAP1 Yes-associated protein 1
ZBTB17 zinc finger and BTB domain containing 17
ZEB2 zinc finger E-box binding homeobox 2
ZFAT zinc finger and AT hook domain containing
ZFR zinc finger RNA binding protein
ZIC3 Zic family member 3