absent pharyngeal arch arteries Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description absence of the vessels formed within the six (five in mammals) pairs of branchial arches in embryogenesis; in the adult, some of these vessels give rise to the great vessels (Mammalian Phenotype Ontology, MP_0012493)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0012493
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4 gene mutations causing the absent pharyngeal arch arteries phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ALDH1A2 aldehyde dehydrogenase 1 family, member A2
EFNB2 ephrin-B2
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
TBX1 T-box 1