abnormal heart ventricle outflow tract morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the superior portion of the ventricles of the heart through which blood flows into the arteries (Mammalian Phenotype Ontology, MP_0010224)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0010224
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Genes

55 gene mutations causing the abnormal heart ventricle outflow tract morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACKR3 atypical chemokine receptor 3
ADAM17 ADAM metallopeptidase domain 17
ADAM19 ADAM metallopeptidase domain 19
C5ORF42 chromosome 5 open reading frame 42
CC2D2A coiled-coil and C2 domain containing 2A
CXCR4 chemokine (C-X-C motif) receptor 4
DCTN5 dynactin 5 (p25)
DOCK1 dedicator of cytokinesis 1
EFNA1 ephrin-A1
EFNB2 ephrin-B2
EGFR epidermal growth factor receptor
ELN elastin
FGFRL1 fibroblast growth factor receptor-like 1
FOXC1 forkhead box C1
FUZ fuzzy planar cell polarity protein
GATA4 GATA binding protein 4
GATA5 GATA binding protein 5
GJA1 gap junction protein, alpha 1, 43kDa
HBEGF heparin-binding EGF-like growth factor
HECTD1 HECT domain containing E3 ubiquitin protein ligase 1
HEY2 hes-related family bHLH transcription factor with YRPW motif 2
HHEX hematopoietically expressed homeobox
HOXA1 homeobox A1
HOXA3 homeobox A3
HRAS Harvey rat sarcoma viral oncogene homolog
HSPG2 heparan sulfate proteoglycan 2
IDUA iduronidase, alpha-L-
INVS inversin
KL klotho
KLF3 Kruppel-like factor 3 (basic)
LRP1 low density lipoprotein receptor-related protein 1
MEGF8 multiple EGF-like-domains 8
MGP matrix Gla protein
MOSPD3 motile sperm domain containing 3
MUS81 MUS81 structure-specific endonuclease subunit
MYH10 myosin, heavy chain 10, non-muscle
NFATC1 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1
NKX2-5 NK2 homeobox 5
NOS3 nitric oxide synthase 3 (endothelial cell)
NTF3 neurotrophin 3
NTRK3 neurotrophic tyrosine kinase, receptor, type 3
PDLIM3 PDZ and LIM domain 3
PHC1 polyhomeotic homolog 1 (Drosophila)
PLCE1 phospholipase C, epsilon 1
PRDM1 PR domain containing 1, with ZNF domain
SMAD6 SMAD family member 6
SOS1 son of sevenless homolog 1 (Drosophila)
SPP1 secreted phosphoprotein 1
TAB1 TGF-beta activated kinase 1/MAP3K7 binding protein 1
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TGFB2 transforming growth factor, beta 2
TRIP11 thyroid hormone receptor interactor 11
WDPCP WD repeat containing planar cell polarity effector
WRN Werner syndrome, RecQ helicase-like
ZFPM2 zinc finger protein, FOG family member 2