abnormal neural tube closure Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any anomaly in the last step in the formation of the neural tube, where the paired neural folds are brought together and fuse at the dorsal midline (Mammalian Phenotype Ontology, MP_0003720)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003720
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Genes

243 gene mutations causing the abnormal neural tube closure phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABI1 abl-interactor 1
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
APAF1 apoptotic peptidase activating factor 1
ARHGAP35 Rho GTPase activating protein 35
ARID1A AT rich interactive domain 1A (SWI-like)
ARL13B ADP-ribosylation factor-like 13B
ATMIN ATM interactor
ATP2C1 ATPase, Ca++ transporting, type 2C, member 1
AXIN1 axin 1
AXIN2 axin 2
BCL10 B-cell CLL/lymphoma 10
BMP2 bone morphogenetic protein 2
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
BRD1 bromodomain containing 1
BRD2 bromodomain containing 2
CALR calreticulin
CASP9 caspase 9, apoptosis-related cysteine peptidase
CCDC160 coiled-coil domain containing 160
CCNF cyclin F
CECR2 cat eye syndrome chromosome region, candidate 2
CELSR1 cadherin, EGF LAG seven-pass G-type receptor 1
CFL1 cofilin 1 (non-muscle)
CHTOP chromatin target of PRMT1
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
CLUAP1 clusterin associated protein 1
COQ7 coenzyme Q7 homolog, ubiquinone (yeast)
CRB2 crumbs family member 2
CREBBP CREB binding protein
CSK c-src tyrosine kinase
CSNK2A1 casein kinase 2, alpha 1 polypeptide
CYFIP1 cytoplasmic FMR1 interacting protein 1
CYP26A1 cytochrome P450, family 26, subfamily A, polypeptide 1
DACT1 dishevelled-binding antagonist of beta-catenin 1
DDX11 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
DEAF1 DEAF1 transcription factor
DLC1 DLC1 Rho GTPase activating protein
DLX5 distal-less homeobox 5
DLX6 distal-less homeobox 6
DNMT1 DNA (cytosine-5-)-methyltransferase 1
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
DNMT3L DNA (cytosine-5-)-methyltransferase 3-like
DVL2 dishevelled segment polarity protein 2
DYNC2LI1 dynein, cytoplasmic 2, light intermediate chain 1
EFNA5 ephrin-A5
EHMT1 euchromatic histone-lysine N-methyltransferase 1
EHMT2 euchromatic histone-lysine N-methyltransferase 2
ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2
EP300 E1A binding protein p300
EPCAM epithelial cell adhesion molecule
ERF Ets2 repressor factor
F2R coagulation factor II (thrombin) receptor
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
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
FOLR1 folate receptor 1 (adult)
FOXB1 forkhead box B1
FOXC2 forkhead box C2
FOXP4 forkhead box P4
FREM2 FRAS1 related extracellular matrix protein 2
FUZ fuzzy planar cell polarity protein
FZD3 frizzled class receptor 3
GATAD2A GATA zinc finger domain containing 2A
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
GPR161 G protein-coupled receptor 161
GRHL2 grainyhead-like 2 (Drosophila)
GRHL3 grainyhead-like 3 (Drosophila)
GRIP1 glutamate receptor interacting protein 1
HES1 hes family bHLH transcription factor 1
HGS hepatocyte growth factor-regulated tyrosine kinase substrate
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HIRA histone cell cycle regulator
HOXA1 homeobox A1
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
IPMK inositol polyphosphate multikinase
ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)
ITPK1 inositol-tetrakisphosphate 1-kinase
JARID2 jumonji, AT rich interactive domain 2
KAT2A K(lysine) acetyltransferase 2A
KDM2B lysine (K)-specific demethylase 2B
KDM6A lysine (K)-specific demethylase 6A
KDM8 lysine (K)-specific demethylase 8
KIF3A kinesin family member 3A
KIF3B kinesin family member 3B
KITLG KIT ligand
KMT2B lysine (K)-specific methyltransferase 2B
LAMA5 laminin, alpha 5
LAMC1 laminin, gamma 1 (formerly LAMB2)
LARP7 La ribonucleoprotein domain family, member 7
LASP1 LIM and SH3 protein 1
LIAS lipoic acid synthetase
LMO4 LIM domain only 4
LMX1A LIM homeobox transcription factor 1, alpha
LRP2 low density lipoprotein receptor-related protein 2
LRP6 low density lipoprotein receptor-related protein 6
LUZP1 leucine zipper protein 1
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
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
MKS1 Meckel syndrome, type 1
MSGN1 mesogenin 1
MTHFD1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase
MTHFD1L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like
MTTP microsomal triglyceride transfer protein
MYC v-myc avian myelocytomatosis viral oncogene homolog
NAT1 N-acetyltransferase 1 (arylamine N-acetyltransferase)
NCKAP1 NCK-associated protein 1
NOG noggin
NR6A1 nuclear receptor subfamily 6, group A, member 1
NUMB numb homolog (Drosophila)
OTX2 orthodenticle homeobox 2
OVOL2 ovo-like zinc finger 2
PAK2 p21 protein (Cdc42/Rac)-activated kinase 2
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
PIP5K1C phosphatidylinositol-4-phosphate 5-kinase, type I, gamma
PKD1 polycystic kidney disease 1 (autosomal dominant)
PLAGL1 pleiomorphic adenoma gene-like 1
PLXNB2 plexin B2
PNPLA6 patatin-like phospholipase domain containing 6
POR P450 (cytochrome) oxidoreductase
PPAP2B phosphatidic acid phosphatase type 2B
PRRX1 paired related homeobox 1
PTCH1 patched 1
PTEN phosphatase and tensin homolog
PTK7 protein tyrosine kinase 7 (inactive)
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPN9 protein tyrosine phosphatase, non-receptor type 9
QKI QKI, KH domain containing, RNA binding
RAB23 RAB23, member RAS oncogene family
RAD9B RAD9 homolog B (S. pombe)
RAPGEF2 Rap guanine nucleotide exchange factor (GEF) 2
RAX retina and anterior neural fold homeobox
RBM12 RNA binding motif protein 12
RC3H1 ring finger and CCCH-type domains 1
RERE arginine-glutamic acid dipeptide (RE) repeats
RGMA repulsive guidance molecule family member a
RPL38 ribosomal protein L38
RTEL1 regulator of telomere elongation helicase 1
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
SHROOM3 shroom family member 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
SMAD5 SMAD family member 5
SNX13 sorting nexin 13
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
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
T T, brachyury homolog (mouse)
TCOF1 Treacher Collins-Franceschetti syndrome 1
TCTN2 tectonic family member 2
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
TGFB1 transforming growth factor, beta 1
TGFB2 transforming growth factor, beta 2
TMED2 transmembrane emp24 domain trafficking protein 2
TMEM67 transmembrane protein 67
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
TULP3 tubby like protein 3
TWIST1 twist family bHLH transcription factor 1
TXN2 thioredoxin 2
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
WNT3A wingless-type MMTV integration site family, member 3A
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
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