omphalocele Gene Set

Dataset HPO Gene-Disease 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://compbio.charite.de/hpoweb/showterm?id=HP:0001539
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Genes

46 genes associated with the omphalocele phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACTG2 actin, gamma 2, smooth muscle, enteric
AMER1 APC membrane recruitment protein 1
BHLHA9 basic helix-loop-helix family, member a9
CD96 CD96 molecule
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CHD7 chromodomain helicase DNA binding protein 7
CHUK conserved helix-loop-helix ubiquitous kinase
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
DACT1 dishevelled-binding antagonist of beta-catenin 1
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
FGFR1 fibroblast growth factor receptor 1
FLNA filamin A, alpha
FLNB filamin B, beta
FRAS1 Fraser extracellular matrix complex subunit 1
FREM1 FRAS1 related extracellular matrix 1
FREM2 FRAS1 related extracellular matrix protein 2
GPC3 glypican 3
GPC4 glypican 4
GRIP1 glutamate receptor interacting protein 1
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HIC1 hypermethylated in cancer 1
HOXD13 homeobox D13
HYLS1 hydrolethalus syndrome 1
IFT80 intraflagellar transport 80
KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
LBR lamin B receptor
LRP2 low density lipoprotein receptor-related protein 2
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
MBTPS2 membrane-bound transcription factor peptidase, site 2
MKS1 Meckel syndrome, type 1
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NSD1 nuclear receptor binding SET domain protein 1
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PORCN porcupine homolog (Drosophila)
PTCH1 patched 1
RAB23 RAB23, member RAS oncogene family
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
THRA thyroid hormone receptor, alpha
TP63 tumor protein p63
TSHB thyroid stimulating hormone, beta
TTC7A tetratricopeptide repeat domain 7A
WDR34 WD repeat domain 34
WDR35 WD repeat domain 35
WDR60 WD repeat domain 60
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon