spina bifida Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003054
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Genes

53 gene mutations causing the spina bifida phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
AMBRA1 autophagy/beclin-1 regulator 1
APAF1 apoptotic peptidase activating factor 1
ARL13B ADP-ribosylation factor-like 13B
ATMIN ATM interactor
BRCA1 breast cancer 1, early onset
CHTOP chromatin target of PRMT1
CYP26A1 cytochrome P450, family 26, subfamily A, polypeptide 1
DACT1 dishevelled-binding antagonist of beta-catenin 1
F2R coagulation factor II (thrombin) receptor
FGFR1 fibroblast growth factor receptor 1
FKBP8 FK506 binding protein 8, 38kDa
FOXC2 forkhead box C2
FOXP4 forkhead box P4
GPR161 G protein-coupled receptor 161
GRHL2 grainyhead-like 2 (Drosophila)
GRHL3 grainyhead-like 3 (Drosophila)
IFT140 intraflagellar transport 140
ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)
ITPK1 inositol-tetrakisphosphate 1-kinase
KITLG KIT ligand
LASP1 LIM and SH3 protein 1
LMX1A LIM homeobox transcription factor 1, alpha
LRP6 low density lipoprotein receptor-related protein 6
MAP3K4 mitogen-activated protein kinase kinase kinase 4
MARCKSL1 MARCKS-like 1
MDFI MyoD family inhibitor
MED31 mediator complex subunit 31
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
NOG noggin
OVOL2 ovo-like zinc finger 2
PAX3 paired box 3
PDGFC platelet derived growth factor C
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PKD1 polycystic kidney disease 1 (autosomal dominant)
PLXNB2 plexin B2
PRRX1 paired related homeobox 1
PTK7 protein tyrosine kinase 7 (inactive)
PTPN9 protein tyrosine phosphatase, non-receptor type 9
RAB23 RAB23, member RAS oncogene family
RAPGEF2 Rap guanine nucleotide exchange factor (GEF) 2
RPL38 ribosomal protein L38
SESTD1 SEC14 and spectrin domains 1
SP8 Sp8 transcription factor
SUZ12 SUZ12 polycomb repressive complex 2 subunit
T T, brachyury homolog (mouse)
TGFB2 transforming growth factor, beta 2
TMEM67 transmembrane protein 67
TRAF4 TNF receptor-associated factor 4
TRPM6 transient receptor potential cation channel, subfamily M, member 6
TULP3 tubby like protein 3
VANGL2 VANGL planar cell polarity protein 2
WNT3A wingless-type MMTV integration site family, member 3A
ZIC2 Zic family member 2