kinked neural tube Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description twists or kinks in the embryonic neural tube (Mammalian Phenotype Ontology, MP_0003400)
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49 gene mutations causing the kinked neural tube phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
APH1A APH1A gamma secretase subunit
AXIN1 axin 1
CASP8 caspase 8, apoptosis-related cysteine peptidase
CCDC160 coiled-coil domain containing 160
CCNF cyclin F
CLUAP1 clusterin associated protein 1
CYFIP1 cytoplasmic FMR1 interacting protein 1
DDX11 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
DLL3 delta-like 3 (Drosophila)
ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2
EP300 E1A binding protein p300
FGFR1 fibroblast growth factor receptor 1
FN1 fibronectin 1
FOXA2 forkhead box A2
FOXC2 forkhead box C2
FURIN furin (paired basic amino acid cleaving enzyme)
HES1 hes family bHLH transcription factor 1
HIRA histone cell cycle regulator
HUS1 HUS1 checkpoint homolog (S. pombe)
IFT88 intraflagellar transport 88
IPMK inositol polyphosphate multikinase
ITGA5 integrin, alpha 5 (fibronectin receptor, alpha polypeptide)
ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)
JAG1 jagged 1
KDM6A lysine (K)-specific demethylase 6A
KMT2B lysine (K)-specific methyltransferase 2B
LDB1 LIM domain binding 1
MED12 mediator complex subunit 12
MIB1 mindbomb E3 ubiquitin protein ligase 1
MSGN1 mesogenin 1
MTHFD1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase
NCSTN nicastrin
NOG noggin
NOTCH1 notch 1
NUP133 nucleoporin 133kDa
NUP50 nucleoporin 50kDa
POFUT1 protein O-fucosyltransferase 1
PPAP2B phosphatidic acid phosphatase type 2B
PTEN phosphatase and tensin homolog
PTK7 protein tyrosine kinase 7 (inactive)
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPN12 protein tyrosine phosphatase, non-receptor type 12
SS18 synovial sarcoma translocation, chromosome 18
SSBP3 single stranded DNA binding protein 3
T T, brachyury homolog (mouse)
TBX6 T-box 6
TFRC transferrin receptor
TGFBR1 transforming growth factor, beta receptor 1
WNT3A wingless-type MMTV integration site family, member 3A