intestinal malrotation Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis. (Human Phenotype Ontology, HP_0002566)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002566
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Genes

53 genes associated with the intestinal malrotation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACTA2 actin, alpha 2, smooth muscle, aorta
ACTG2 actin, gamma 2, smooth muscle, enteric
AMER1 APC membrane recruitment protein 1
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ASXL1 additional sex combs like transcriptional regulator 1
BCOR BCL6 corepressor
CCDC22 coiled-coil domain containing 22
CHRM3 cholinergic receptor, muscarinic 3
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRND cholinergic receptor, nicotinic, delta (muscle)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CLMP CXADR-like membrane protein
COMT catechol-O-methyltransferase
DHCR24 24-dehydrocholesterol reductase
DHCR7 7-dehydrocholesterol reductase
DHODH dihydroorotate dehydrogenase (quinone)
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EYA1 EYA transcriptional coactivator and phosphatase 1
FBN2 fibrillin 2
FGFR2 fibroblast growth factor receptor 2
FLNA filamin A, alpha
FOXF1 forkhead box F1
GATA6 GATA binding protein 6
GP1BB glycoprotein Ib (platelet), beta polypeptide
GPC3 glypican 3
HDAC8 histone deacetylase 8
HIRA histone cell cycle regulator
HMGA2 high mobility group AT-hook 2
KIAA0196 KIAA0196
KMT2D lysine (K)-specific methyltransferase 2D
LBR lamin B receptor
LEMD3 LEM domain containing 3
LRP2 low density lipoprotein receptor-related protein 2
MED12 mediator complex subunit 12
MKS1 Meckel syndrome, type 1
NEK1 NIMA-related kinase 1
NIPBL Nipped-B homolog (Drosophila)
NOTCH2 notch 2
NPHP3 nephronophthisis 3 (adolescent)
PORCN porcupine homolog (Drosophila)
RAD21 RAD21 homolog (S. pombe)
RAPSN receptor-associated protein of the synapse
RFX6 regulatory factor X, 6
SALL4 spalt-like transcription factor 4
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
TBX1 T-box 1
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TP63 tumor protein p63
TTC7A tetratricopeptide repeat domain 7A
UBE3B ubiquitin protein ligase E3B
UFD1L ubiquitin fusion degradation 1 like (yeast)