pulmonary valve atresia Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A congenital disorder of the pulmonary valve in which the orifice of the valve fails to develop. (Human Phenotype Ontology, HP_0010882)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0006130
Similar Terms
Downloads & Tools

Genes

5 gene mutations causing the pulmonary valve atresia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
C5ORF42 chromosome 5 open reading frame 42
CC2D2A coiled-coil and C2 domain containing 2A
FUZ fuzzy planar cell polarity protein
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
WDPCP WD repeat containing planar cell polarity effector