abnormal aortic valve morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the valve between the left ventricle and the ascending aorta which prevents backflow into the left ventricle, and contains three cusps, the posterior (non-coronary), right anterior and left anterior cusps, attached to an outer fibrous ring (annulus) (Mammalian Phenotype Ontology, MP_0002747)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002747
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Genes

40 gene mutations causing the abnormal aortic valve 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
CXCR4 chemokine (C-X-C motif) receptor 4
DCTN5 dynactin 5 (p25)
EFNA1 ephrin-A1
EFNB2 ephrin-B2
EGFR epidermal growth factor receptor
ELN elastin
FOXC1 forkhead box C1
GATA4 GATA binding protein 4
GATA5 GATA binding protein 5
GJA1 gap junction protein, alpha 1, 43kDa
HBEGF heparin-binding EGF-like growth factor
HEY2 hes-related family bHLH transcription factor with YRPW motif 2
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)
MGP matrix Gla protein
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
PHC1 polyhomeotic homolog 1 (Drosophila)
PLCE1 phospholipase C, epsilon 1
PRDM1 PR domain containing 1, with ZNF domain
SOS1 son of sevenless homolog 1 (Drosophila)
SPP1 secreted phosphoprotein 1
TAB1 TGF-beta activated kinase 1/MAP3K7 binding protein 1
TGFB2 transforming growth factor, beta 2
WRN Werner syndrome, RecQ helicase-like
ZFPM2 zinc finger protein, FOG family member 2