abnormal pulmonary 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 right ventricle and the pulmonary trunk, and contains three cusps, the anterior, right posterior and left posterior cusps, attached to an outer fibrous ring (annulus) (Mammalian Phenotype Ontology, MP_0002748)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002748
Similar Terms
Downloads & Tools

Genes

26 gene mutations causing the abnormal pulmonary 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
C5ORF42 chromosome 5 open reading frame 42
CC2D2A coiled-coil and C2 domain containing 2A
EFNB2 ephrin-B2
FGFRL1 fibroblast growth factor receptor-like 1
FOXC1 forkhead box C1
FUZ fuzzy planar cell polarity protein
GATA4 GATA binding protein 4
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
HOXA3 homeobox A3
HSPG2 heparan sulfate proteoglycan 2
NFATC1 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1
NTF3 neurotrophin 3
NTRK3 neurotrophic tyrosine kinase, receptor, type 3
PHC1 polyhomeotic homolog 1 (Drosophila)
PLCE1 phospholipase C, epsilon 1
SMAD6 SMAD family member 6
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TGFB2 transforming growth factor, beta 2
WDPCP WD repeat containing planar cell polarity effector
ZFPM2 zinc finger protein, FOG family member 2