abnormal fourth pharyngeal arch morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the fourth arch which contributes to development of the cartilage of the larynx, laryngeal, pharyngeal, and soft palate muscles, superior parathyroid gland, and C-cells of the thymus (Mammalian Phenotype Ontology, MP_0006340)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0006340
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Genes

20 gene mutations causing the abnormal fourth pharyngeal arch morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ALDH1A2 aldehyde dehydrogenase 1 family, member A2
BAZ1B bromodomain adjacent to zinc finger domain, 1B
CHD7 chromodomain helicase DNA binding protein 7
ECE1 endothelin converting enzyme 1
EDN1 endothelin 1
EDNRA endothelin receptor type A
FOXC1 forkhead box C1
FOXC2 forkhead box C2
GBX2 gastrulation brain homeobox 2
HOXA3 homeobox A3
KAT6A K(lysine) acetyltransferase 6A
LTBP1 latent transforming growth factor beta binding protein 1
MKL2 MKL/myocardin-like 2
NRP1 neuropilin 1
PLXND1 plexin D1
RDH10 retinol dehydrogenase 10 (all-trans)
RIPPLY3 ripply transcriptional repressor 3
SMAD7 SMAD family member 7
TBX1 T-box 1
VEGFA vascular endothelial growth factor A