abnormal neuropore morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of either the anterior or posterior temporary opening leading from the central canal of the embryonic neural tube to the exterior; the anterior and posterior neuropores connect the lumen of the neural tube with the amniotic cavity (Mammalian Phenotype Ontology, MP_0012542)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0012542
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64 gene mutations causing the abnormal neuropore morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ADNP activity-dependent neuroprotector homeobox
ALDH1A2 aldehyde dehydrogenase 1 family, member A2
AMT aminomethyltransferase
ARHGAP35 Rho GTPase activating protein 35
AXIN1 axin 1
BMP2 bone morphogenetic protein 2
CALR calreticulin
CCDC160 coiled-coil domain containing 160
CELSR1 cadherin, EGF LAG seven-pass G-type receptor 1
CREBBP CREB binding protein
CSK c-src tyrosine kinase
CSNK2A1 casein kinase 2, alpha 1 polypeptide
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
EFNA5 ephrin-A5
FDFT1 farnesyl-diphosphate farnesyltransferase 1
FLRT3 fibronectin leucine rich transmembrane protein 3
FOLR1 folate receptor 1 (adult)
FZD3 frizzled class receptor 3
GATAD2A GATA zinc finger domain containing 2A
GCM2 glial cells missing homolog 2 (Drosophila)
GLI3 GLI family zinc finger 3
GRHL2 grainyhead-like 2 (Drosophila)
HES1 hes family bHLH transcription factor 1
HUS1 HUS1 checkpoint homolog (S. pombe)
IFT57 intraflagellar transport 57
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
JARID2 jumonji, AT rich interactive domain 2
KAT2A K(lysine) acetyltransferase 2A
KDM2B lysine (K)-specific demethylase 2B
LAMA5 laminin, alpha 5
LMO4 LIM domain only 4
LUZP1 leucine zipper protein 1
MGAT1 mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MKS1 Meckel syndrome, type 1
MSGN1 mesogenin 1
MTTP microsomal triglyceride transfer protein
NOG noggin
NR6A1 nuclear receptor subfamily 6, group A, member 1
OVOL2 ovo-like zinc finger 2
PATZ1 POZ (BTB) and AT hook containing zinc finger 1
PAX2 paired box 2
PAX3 paired box 3
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PIP5K1C phosphatidylinositol-4-phosphate 5-kinase, type I, gamma
PLXNB2 plexin B2
POR P450 (cytochrome) oxidoreductase
PTCH1 patched 1
RAB23 RAB23, member RAS oncogene family
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
SMAD5 SMAD family member 5
SP8 Sp8 transcription factor
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TMEM67 transmembrane protein 67
TRIM71 tripartite motif containing 71, E3 ubiquitin protein ligase
TSC2 tuberous sclerosis 2
TULP3 tubby like protein 3
TXN2 thioredoxin 2
UNC5B unc-5 homolog B (C. elegans)
VCL vinculin
YBX1 Y box binding protein 1
ZIC2 Zic family member 2