abnormal first pharyngeal arch morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the first arch which contributes to development of mastication muscles, maxilla, mandible, incus, malleus, Meckel's cartilage, trigeminal nerve, and maxillary artery (Mammalian Phenotype Ontology, MP_0006337)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0006337
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40 gene mutations causing the abnormal first pharyngeal arch morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ADAM10 ADAM metallopeptidase domain 10
AKAP13 A kinase (PRKA) anchor protein 13
ALDH1A2 aldehyde dehydrogenase 1 family, member A2
APH1A APH1A gamma secretase subunit
CCM2 cerebral cavernous malformation 2
DISP1 dispatched homolog 1 (Drosophila)
DKK1 dickkopf WNT signaling pathway inhibitor 1
DLX5 distal-less homeobox 5
DLX6 distal-less homeobox 6
EDN1 endothelin 1
EDNRA endothelin receptor type A
EFNB2 ephrin-B2
FGF16 fibroblast growth factor 16
FOLR1 folate receptor 1 (adult)
FOXO1 forkhead box O1
GLI3 GLI family zinc finger 3
HAND2 heart and neural crest derivatives expressed 2
HHEX hematopoietically expressed homeobox
ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)
KAT7 K(lysine) acetyltransferase 7
KCNH2 potassium channel, voltage gated eag related subfamily H, member 2
MAPK7 mitogen-activated protein kinase 7
MED12 mediator complex subunit 12
MTHFD1L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like
NCSTN nicastrin
NRP1 neuropilin 1
OTX2 orthodenticle homeobox 2
PCSK6 proprotein convertase subtilisin/kexin type 6
PDPK1 3-phosphoinositide dependent protein kinase 1
PGAP1 post-GPI attachment to proteins 1
RASA1 RAS p21 protein activator (GTPase activating protein) 1
RERE arginine-glutamic acid dipeptide (RE) repeats
SATB2 SATB homeobox 2
SLC8A1 solute carrier family 8 (sodium/calcium exchanger), member 1
SMO smoothened, frizzled class receptor
STK11 serine/threonine kinase 11
TCOF1 Treacher Collins-Franceschetti syndrome 1
TTN titin
TWSG1 twisted gastrulation BMP signaling modulator 1
ZEB2 zinc finger E-box binding homeobox 2