small pharyngeal arch Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description reduced size of one or more of the branchial arches (Mammalian Phenotype Ontology, MP_0006346)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0006346
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Genes

37 gene mutations causing the small pharyngeal arch 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
ARID3B AT rich interactive domain 3B (BRIGHT-like)
CDH5 cadherin 5, type 2 (vascular endothelium)
CSNK2A1 casein kinase 2, alpha 1 polypeptide
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
EDN1 endothelin 1
EDNRA endothelin receptor type A
EFNB2 ephrin-B2
FGFR1 fibroblast growth factor receptor 1
FOXO1 forkhead box O1
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HAND2 heart and neural crest derivatives expressed 2
HFM Hemifacial microsomia
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HOXA1 homeobox A1
ITGAV integrin, alpha V
ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)
KCNH2 potassium channel, voltage gated eag related subfamily H, member 2
KIF3A kinesin family member 3A
MAPK7 mitogen-activated protein kinase 7
MECOM MDS1 and EVI1 complex locus
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
NOTCH1 notch 1
OTULIN OTU deubiquitinase with linear linkage specificity
OVOL2 ovo-like zinc finger 2
RERE arginine-glutamic acid dipeptide (RE) repeats
RIPPLY3 ripply transcriptional repressor 3
TBX1 T-box 1
TCOF1 Treacher Collins-Franceschetti syndrome 1
TDG thymine-DNA glycosylase
UBR5 ubiquitin protein ligase E3 component n-recognin 5
UHRF1 ubiquitin-like with PHD and ring finger domains 1
VEGFA vascular endothelial growth factor A