abnormal neural tube morphology/development Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of or development of the hollow epithelial tube found on the dorsal side of the vertebrate embryo that develops into the central nervous system (i.e. brain and spinal cord) (Mammalian Phenotype Ontology, MP_0002151)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002151
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Genes

400 gene mutations causing the abnormal neural tube morphology/development phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABI1 abl-interactor 1
ADAM10 ADAM metallopeptidase domain 10
ADAMTS20 ADAM metallopeptidase with thrombospondin type 1 motif, 20
ADGRA2 adhesion G protein-coupled receptor A2
ADNP activity-dependent neuroprotector homeobox
AGO2 argonaute RISC catalytic component 2
ALDH1A2 aldehyde dehydrogenase 1 family, member A2
ALKBH1 alkB, alkylation repair homolog 1 (E. coli)
ALX1 ALX homeobox 1
ALX3 ALX homeobox 3
AMBRA1 autophagy/beclin-1 regulator 1
AMT aminomethyltransferase
ANKRD17 ankyrin repeat domain 17
APAF1 apoptotic peptidase activating factor 1
APC adenomatous polyposis coli
APH1A APH1A gamma secretase subunit
ARHGAP35 Rho GTPase activating protein 35
ARID1A AT rich interactive domain 1A (SWI-like)
ARID3B AT rich interactive domain 3B (BRIGHT-like)
ARL13B ADP-ribosylation factor-like 13B
ARNT aryl hydrocarbon receptor nuclear translocator
ATMIN ATM interactor
ATP2C1 ATPase, Ca++ transporting, type 2C, member 1
AXIN1 axin 1
AXIN2 axin 2
B9D1 B9 protein domain 1
BBS4 Bardet-Biedl syndrome 4
BCL10 B-cell CLL/lymphoma 10
BMP2 bone morphogenetic protein 2
BMPR1A bone morphogenetic protein receptor, type IA
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
BRD1 bromodomain containing 1
BRD2 bromodomain containing 2
C2CD3 C2 calcium-dependent domain containing 3
CALR calreticulin
CASP8 caspase 8, apoptosis-related cysteine peptidase
CASP9 caspase 9, apoptosis-related cysteine peptidase
CCDC160 coiled-coil domain containing 160
CCNF cyclin F
CDH2 cadherin 2, type 1, N-cadherin (neuronal)
CDON cell adhesion associated, oncogene regulated
CECR2 cat eye syndrome chromosome region, candidate 2
CELSR1 cadherin, EGF LAG seven-pass G-type receptor 1
CENPA centromere protein A
CFL1 cofilin 1 (non-muscle)
CHD7 chromodomain helicase DNA binding protein 7
CHMP5 charged multivesicular body protein 5
CHTOP chromatin target of PRMT1
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
COQ7 coenzyme Q7 homolog, ubiquinone (yeast)
CORO1C coronin, actin binding protein, 1C
CRB2 crumbs family member 2
CREBBP CREB binding protein
CSK c-src tyrosine kinase
CSNK2A1 casein kinase 2, alpha 1 polypeptide
CTBP2 C-terminal binding protein 2
CUX2 cut-like homeobox 2
CYFIP1 cytoplasmic FMR1 interacting protein 1
CYP26A1 cytochrome P450, family 26, subfamily A, polypeptide 1
DACT1 dishevelled-binding antagonist of beta-catenin 1
DCHS1 dachsous cadherin-related 1
DCTN1 dynactin 1
DDX11 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
DEAF1 DEAF1 transcription factor
DISP1 dispatched homolog 1 (Drosophila)
DKK1 dickkopf WNT signaling pathway inhibitor 1
DLC1 DLC1 Rho GTPase activating protein
DLL1 delta-like 1 (Drosophila)
DLL3 delta-like 3 (Drosophila)
DLX5 distal-less homeobox 5
DLX6 distal-less homeobox 6
DNM1L dynamin 1-like
DNMT1 DNA (cytosine-5-)-methyltransferase 1
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
DNMT3L DNA (cytosine-5-)-methyltransferase 3-like
DPH1 diphthamide biosynthesis 1
DPH3 diphthamide biosynthesis 3
DVL2 dishevelled segment polarity protein 2
DYNC2LI1 dynein, cytoplasmic 2, light intermediate chain 1
DZIP1 DAZ interacting zinc finger protein 1
EDN3 endothelin 3
EFNA5 ephrin-A5
EFNB2 ephrin-B2
EGR2 early growth response 2
EHMT1 euchromatic histone-lysine N-methyltransferase 1
EHMT2 euchromatic histone-lysine N-methyltransferase 2
EN1 engrailed homeobox 1
ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2
EP300 E1A binding protein p300
EP400 E1A binding protein p400
EPB41L5 erythrocyte membrane protein band 4.1 like 5
EPCAM epithelial cell adhesion molecule
EPHA2 EPH receptor A2
ERBB3 erb-b2 receptor tyrosine kinase 3
ERF Ets2 repressor factor
F2R coagulation factor II (thrombin) receptor
FAT4 FAT atypical cadherin 4
FBLN1 fibulin 1
FBXL5 F-box and leucine-rich repeat protein 5
FBXW7 F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase
FDFT1 farnesyl-diphosphate farnesyltransferase 1
FEN1 flap structure-specific endonuclease 1
FERD3L Fer3-like bHLH transcription factor
FGF3 fibroblast growth factor 3
FGF8 fibroblast growth factor 8 (androgen-induced)
FGFR1 fibroblast growth factor receptor 1
FKBP1A FK506 binding protein 1A, 12kDa
FKBP8 FK506 binding protein 8, 38kDa
FLRT3 fibronectin leucine rich transmembrane protein 3
FN1 fibronectin 1
FOLR1 folate receptor 1 (adult)
FOXA2 forkhead box A2
FOXB1 forkhead box B1
FOXC1 forkhead box C1
FOXC2 forkhead box C2
FOXG1 forkhead box G1
FOXP4 forkhead box P4
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
FZD3 frizzled class receptor 3
G6PD glucose-6-phosphate dehydrogenase
GAS1 growth arrest-specific 1
GATA3 GATA binding protein 3
GATA4 GATA binding protein 4
GATAD2A GATA zinc finger domain containing 2A
GBX2 gastrulation brain homeobox 2
GCM2 glial cells missing homolog 2 (Drosophila)
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
GLMN glomulin, FKBP associated protein
GLRX3 glutaredoxin 3
GNB1 guanine nucleotide binding protein (G protein), beta polypeptide 1
GPR161 G protein-coupled receptor 161
GRHL2 grainyhead-like 2 (Drosophila)
GRHL3 grainyhead-like 3 (Drosophila)
GRIP1 glutamate receptor interacting protein 1
HAND1 heart and neural crest derivatives expressed 1
HES1 hes family bHLH transcription factor 1
HESX1 HESX homeobox 1
HGS hepatocyte growth factor-regulated tyrosine kinase substrate
HHAT hedgehog acyltransferase
HHIP hedgehog interacting protein
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HIPK1 homeodomain interacting protein kinase 1
HIPK2 homeodomain interacting protein kinase 2
HIRA histone cell cycle regulator
HLA-DOA major histocompatibility complex, class II, DO alpha
HOXA1 homeobox A1
HOXA2 homeobox A2
HOXB1 homeobox B1
HOXB13 homeobox B13
HOXB2 homeobox B2
HSPB11 heat shock protein family B (small), member 11
HUS1 HUS1 checkpoint homolog (S. pombe)
IFT122 intraflagellar transport 122
IFT140 intraflagellar transport 140
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
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
INTU inturned planar cell polarity protein
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)
ITGB8 integrin, beta 8
ITPK1 inositol-tetrakisphosphate 1-kinase
JAG1 jagged 1
JARID2 jumonji, AT rich interactive domain 2
JUN jun proto-oncogene
KAT2A K(lysine) acetyltransferase 2A
KDM2B lysine (K)-specific demethylase 2B
KDM6A lysine (K)-specific demethylase 6A
KDM8 lysine (K)-specific demethylase 8
KIAA0586 KIAA0586
KIF3A kinesin family member 3A
KIF3B kinesin family member 3B
KIF7 kinesin family member 7
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KITLG KIT ligand
KMT2B lysine (K)-specific methyltransferase 2B
KRAS Kirsten rat sarcoma viral oncogene homolog
LAMA5 laminin, alpha 5
LAMC1 laminin, gamma 1 (formerly LAMB2)
LARP7 La ribonucleoprotein domain family, member 7
LASP1 LIM and SH3 protein 1
LATS2 large tumor suppressor kinase 2
LBX1 ladybird homeobox 1
LDB1 LIM domain binding 1
LEP leptin
LHX1 LIM homeobox 1
LIAS lipoic acid synthetase
LLGL1 lethal giant larvae homolog 1 (Drosophila)
LMO2 LIM domain only 2 (rhombotin-like 1)
LMO4 LIM domain only 4
LMX1A LIM homeobox transcription factor 1, alpha
LMX1B LIM homeobox transcription factor 1, beta
LRP2 low density lipoprotein receptor-related protein 2
LRP6 low density lipoprotein receptor-related protein 6
LTBP1 latent transforming growth factor beta binding protein 1
LUZP1 leucine zipper protein 1
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MAP3K4 mitogen-activated protein kinase kinase kinase 4
MAP3K7 mitogen-activated protein kinase kinase kinase 7
MARCKS myristoylated alanine-rich protein kinase C substrate
MARCKSL1 MARCKS-like 1
MBD4 methyl-CpG binding domain protein 4
MDFI MyoD family inhibitor
MDM4 MDM4, p53 regulator
MED1 mediator complex subunit 1
MED12 mediator complex subunit 12
MED24 mediator complex subunit 24
MED31 mediator complex subunit 31
MEN1 multiple endocrine neoplasia I
MESP1 mesoderm posterior basic helix-loop-helix transcription factor 1
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
MGAT1 mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MIB1 mindbomb E3 ubiquitin protein ligase 1
MKL2 MKL/myocardin-like 2
MKS1 Meckel syndrome, type 1
MLLT4 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4
MSGN1 mesogenin 1
MSX1 msh homeobox 1
MTHFD1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase
MTHFD1L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MTTP microsomal triglyceride transfer protein
MYC v-myc avian myelocytomatosis viral oncogene homolog
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
NAT1 N-acetyltransferase 1 (arylamine N-acetyltransferase)
NCKAP1 NCK-associated protein 1
NCSTN nicastrin
NF1 neurofibromin 1
NODAL nodal growth differentiation factor
NOG noggin
NOTCH1 notch 1
NOTO notochord homeobox
NR6A1 nuclear receptor subfamily 6, group A, member 1
NUMB numb homolog (Drosophila)
NUP133 nucleoporin 133kDa
NUP50 nucleoporin 50kDa
OTX2 orthodenticle homeobox 2
OVOL2 ovo-like zinc finger 2
PAK2 p21 protein (Cdc42/Rac)-activated kinase 2
PAK4 p21 protein (Cdc42/Rac)-activated kinase 4
PALLD palladin, cytoskeletal associated protein
PATZ1 POZ (BTB) and AT hook containing zinc finger 1
PAX2 paired box 2
PAX3 paired box 3
PDGFC platelet derived growth factor C
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PHACTR4 phosphatase and actin regulator 4
PHGDH phosphoglycerate dehydrogenase
PHOX2B paired-like homeobox 2b
PIP5K1C phosphatidylinositol-4-phosphate 5-kinase, type I, gamma
PKD1 polycystic kidney disease 1 (autosomal dominant)
PLAGL1 pleiomorphic adenoma gene-like 1
PLK4 polo-like kinase 4
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
PLXNB2 plexin B2
PMM2 phosphomannomutase 2
PNPLA6 patatin-like phospholipase domain containing 6
POFUT1 protein O-fucosyltransferase 1
POR P450 (cytochrome) oxidoreductase
PPAP2B phosphatidic acid phosphatase type 2B
PRRX1 paired related homeobox 1
PTCH1 patched 1
PTEN phosphatase and tensin homolog
PTF1A pancreas specific transcription factor, 1a
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
PTPN9 protein tyrosine phosphatase, non-receptor type 9
QKI QKI, KH domain containing, RNA binding
RAB23 RAB23, member RAS oncogene family
RAD17 RAD17 homolog (S. pombe)
RAD51D RAD51 paralog D
RAD54L2 RAD54-like 2 (S. cerevisiae)
RAD9B RAD9 homolog B (S. pombe)
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAPGEF1 Rap guanine nucleotide exchange factor (GEF) 1
RAPGEF2 Rap guanine nucleotide exchange factor (GEF) 2
RAX retina and anterior neural fold homeobox
RBL2 retinoblastoma-like 2
RBM12 RNA binding motif protein 12
RC3H1 ring finger and CCCH-type domains 1
RERE arginine-glutamic acid dipeptide (RE) repeats
RET ret proto-oncogene
REV3L REV3-like, polymerase (DNA directed), zeta, catalytic subunit
RFX4 regulatory factor X, 4 (influences HLA class II expression)
RGMA repulsive guidance molecule family member a
RNF111 ring finger protein 111
ROBO3 roundabout, axon guidance receptor, homolog 3 (Drosophila)
RPGRIP1L RPGRIP1-like
RPL38 ribosomal protein L38
RPS7 ribosomal protein S7
RRN3 RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae)
RTEL1 regulator of telomere elongation helicase 1
RTTN rotatin
RYBP RING1 and YY1 binding protein
SALL2 spalt-like transcription factor 2
SALL4 spalt-like transcription factor 4
SCRIB scribbled planar cell polarity protein
SCUBE1 signal peptide, CUB domain, EGF-like 1
SEC24B SEC24 family member B
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
SESTD1 SEC14 and spectrin domains 1
SETD2 SET domain containing 2
SHB Src homology 2 domain containing adaptor protein B
SHH sonic hedgehog
SHROOM3 shroom family member 3
SIX1 SIX homeobox 1
SIX3 SIX homeobox 3
SKI SKI proto-oncogene
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
SLC31A1 solute carrier family 31 (copper transporter), member 1
SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1
SMAD1 SMAD family member 1
SMAD5 SMAD family member 5
SMARCC1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1
SNX13 sorting nexin 13
SOWAHB sosondowah ankyrin repeat domain family member B
SOX10 SRY (sex determining region Y)-box 10
SP2 Sp2 transcription factor
SP8 Sp8 transcription factor
SPINT2 serine peptidase inhibitor, Kunitz type, 2
SPTAN1 spectrin, alpha, non-erythrocytic 1
SRD5A3 steroid 5 alpha-reductase 3
SS18 synovial sarcoma translocation, chromosome 18
SSBP3 single stranded DNA binding protein 3
STIL SCL/TAL1 interrupting locus
STIP1 stress-induced phosphoprotein 1
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
T T, brachyury homolog (mouse)
TBC1D32 TBC1 domain family, member 32
TBX6 T-box 6
TCEB3 transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)
TCOF1 Treacher Collins-Franceschetti syndrome 1
TCTN1 tectonic family member 1
TCTN2 tectonic family member 2
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)
TFB1M transcription factor B1, mitochondrial
TFRC transferrin receptor
TGFB1 transforming growth factor, beta 1
TGFB2 transforming growth factor, beta 2
TGFBR1 transforming growth factor, beta receptor 1
TMED2 transmembrane emp24 domain trafficking protein 2
TMEM107 transmembrane protein 107
TMEM231 transmembrane protein 231
TMEM67 transmembrane protein 67
TP53BP2 tumor protein p53 binding protein 2
TRAF3IP1 TNF receptor-associated factor 3 interacting protein 1
TRAF4 TNF receptor-associated factor 4
TRIM28 tripartite motif containing 28
TRIM71 tripartite motif containing 71, E3 ubiquitin protein ligase
TRPM6 transient receptor potential cation channel, subfamily M, member 6
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TTBK2 tau tubulin kinase 2
TTC21B tetratricopeptide repeat domain 21B
TULP3 tubby like protein 3
TWIST1 twist family bHLH transcription factor 1
TXN2 thioredoxin 2
TXNRD1 thioredoxin reductase 1
UHRF1 ubiquitin-like with PHD and ring finger domains 1
UNC5B unc-5 homolog B (C. elegans)
USP9X ubiquitin specific peptidase 9, X-linked
VANGL2 VANGL planar cell polarity protein 2
VCL vinculin
WASL Wiskott-Aldrich syndrome-like
WDPCP WD repeat containing planar cell polarity effector
WNT1 wingless-type MMTV integration site family, member 1
WNT3A wingless-type MMTV integration site family, member 3A
XBP1 X-box binding protein 1
XIST X inactive specific transcript (non-protein coding)
XRCC2 X-ray repair complementing defective repair in Chinese hamster cells 2
YBX1 Y box binding protein 1
ZDHHC15 zinc finger, DHHC-type containing 15
ZEB1 zinc finger E-box binding homeobox 1
ZEB2 zinc finger E-box binding homeobox 2
ZFP36L1 ZFP36 ring finger protein-like 1
ZIC2 Zic family member 2
ZIC3 Zic family member 3
ZIC5 Zic family member 5
ZNF148 zinc finger protein 148
ZNRF3 zinc and ring finger 3