absent second pharyngeal arch Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description absence of the structure of the second arch which contributes to the development of the stapes, styloid process, hyoid bone, stylohyoid ligament, muscles of facial expression, stapedius muscle, stylohyoid muscle, and lining of the palatine tonsils (Mammalian Phenotype Ontology, MP_0006345)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0006345
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10 gene mutations causing the absent second pharyngeal arch phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ALDH1A2 aldehyde dehydrogenase 1 family, member A2
EFNB2 ephrin-B2
FOXO1 forkhead box O1
GRB2 growth factor receptor-bound protein 2
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
MED12 mediator complex subunit 12
MIB1 mindbomb E3 ubiquitin protein ligase 1
PRDM1 PR domain containing 1, with ZNF domain
TBX1 T-box 1