abnormal third pharyngeal arch morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the third are which contributes to the development of the hyoid bone, stylopharyngeus muscle, inferior parathyroid gland, and thymus (Mammalian Phenotype Ontology, MP_0006339)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0006339
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Genes

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

Symbol Name
ALDH1A2 aldehyde dehydrogenase 1 family, member A2
CCM2 cerebral cavernous malformation 2
ECE1 endothelin converting enzyme 1
EDNRA endothelin receptor type A
FGF8 fibroblast growth factor 8 (androgen-induced)
FOXC2 forkhead box C2
GCM2 glial cells missing homolog 2 (Drosophila)
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
MED12 mediator complex subunit 12
MKL2 MKL/myocardin-like 2
NRP1 neuropilin 1
PRDM1 PR domain containing 1, with ZNF domain
RDH10 retinol dehydrogenase 10 (all-trans)
RIPPLY3 ripply transcriptional repressor 3
TBX1 T-box 1
VEGFA vascular endothelial growth factor A