cardiac valve regurgitation Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description the backward reflux of blood through a cardiac valve, due to insufficiency caused by disease, aging or congenital malformation (Mammalian Phenotype Ontology, MP_0009384)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0009384
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Genes

16 gene mutations causing the cardiac valve regurgitation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ARSB arylsulfatase B
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
EGFR epidermal growth factor receptor
EPHA3 EPH receptor A3
ERBB3 erb-b2 receptor tyrosine kinase 3
FGFRL1 fibroblast growth factor receptor-like 1
GATA4 GATA binding protein 4
GJA1 gap junction protein, alpha 1, 43kDa
HEY2 hes-related family bHLH transcription factor with YRPW motif 2
IDUA iduronidase, alpha-L-
KLF3 Kruppel-like factor 3 (basic)
LOX lysyl oxidase
MUS81 MUS81 structure-specific endonuclease subunit
NFATC1 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1
PLCE1 phospholipase C, epsilon 1
SEMA3C sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C