omphalocele Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A physical disorder characterized by a defect in the development of the abdominal wall muscles, resulting in the intestines, liver and other organs to remain outside of the abdomen in a sac. (Human Disease Ontology, DOID_0060327)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003052
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Genes

43 gene mutations causing the omphalocele phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
AIP aryl hydrocarbon receptor interacting protein
ALX4 ALX homeobox 4
ARHGAP35 Rho GTPase activating protein 35
ATXN1L ataxin 1-like
BMP4 bone morphogenetic protein 4
CALD1 caldesmon 1
CALR calreticulin
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CHUK conserved helix-loop-helix ubiquitous kinase
EFNB1 ephrin-B1
FENDRR FOXF1 adjacent non-coding developmental regulatory RNA
FLNA filamin A, alpha
GDF11 growth differentiation factor 11
GLI3 GLI family zinc finger 3
HSPB11 heat shock protein family B (small), member 11
IFT27 intraflagellar transport 27
IGF2 insulin-like growth factor 2
LPAR4 lysophosphatidic acid receptor 4
LRP1 low density lipoprotein receptor-related protein 1
LRP2 low density lipoprotein receptor-related protein 2
LUZP1 leucine zipper protein 1
MAB21L2 mab-21-like 2 (C. elegans)
MAP3K4 mitogen-activated protein kinase kinase kinase 4
MARCKS myristoylated alanine-rich protein kinase C substrate
MEGF8 multiple EGF-like-domains 8
MKS1 Meckel syndrome, type 1
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
NUAK1 NUAK family, SNF1-like kinase, 1
PCSK5 proprotein convertase subtilisin/kexin type 5
PITX2 paired-like homeodomain 2
PSEN1 presenilin 1
PTCH1 patched 1
PTK7 protein tyrosine kinase 7 (inactive)
ROCK1 Rho-associated, coiled-coil containing protein kinase 1
RPL38 ribosomal protein L38
RUNX1T1 runt-related transcription factor 1; translocated to, 1 (cyclin D-related)
RYR1 ryanodine receptor 1 (skeletal)
SEC24B SEC24 family member B
SLC12A5 solute carrier family 12 (potassium/chloride transporter), member 5
SLC32A1 solute carrier family 32 (GABA vesicular transporter), member 1
SOX11 SRY (sex determining region Y)-box 11
TRIP11 thyroid hormone receptor interactor 11
VANGL2 VANGL planar cell polarity protein 2