abnormal aortic valve cusp morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the three fibrous triangular components and associated flap of the aortic valve (Mammalian Phenotype Ontology, MP_0010595)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0010595
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14 gene mutations causing the abnormal aortic valve cusp morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ADAM19 ADAM metallopeptidase domain 19
EFNA1 ephrin-A1
FOXC1 forkhead box C1
GATA5 GATA binding protein 5
HEY2 hes-related family bHLH transcription factor with YRPW motif 2
HOXA1 homeobox A1
KLF3 Kruppel-like factor 3 (basic)
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
PLCE1 phospholipase C, epsilon 1
SOS1 son of sevenless homolog 1 (Drosophila)
TGFB2 transforming growth factor, beta 2