abnormal carotid artery morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the bilaterally paired branched arteries that deliver oxygenated nutrient filled blood from the heart to the head, neck, and brain; of the two common carotid arteries, which extend headward on each side of the anterior neck, the left originates in the arch of the aorta over the heart; the right originates in the brachiocephalic trunk, the largest branch from the arch of the aorta; each common carotid artery divides into an external and an internal carotid artery near the top of the thyroid (Mammalian Phenotype Ontology, MP_0004181)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004181
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Genes

26 gene mutations causing the abnormal carotid artery morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ALDH1A2 aldehyde dehydrogenase 1 family, member A2
CHD7 chromodomain helicase DNA binding protein 7
CHRD chordin
CRK v-crk avian sarcoma virus CT10 oncogene homolog
DLL4 delta-like 4 (Drosophila)
EDN1 endothelin 1
EDNRA endothelin receptor type A
EGLN3 egl-9 family hypoxia-inducible factor 3
ENG endoglin
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
F2R coagulation factor II (thrombin) receptor
FBLN1 fibulin 1
FOXM1 forkhead box M1
FOXO1 forkhead box O1
HOXA1 homeobox A1
MKL2 MKL/myocardin-like 2
OTULIN OTU deubiquitinase with linear linkage specificity
P2RX4 purinergic receptor P2X, ligand gated ion channel, 4
PAX3 paired box 3
PHOX2B paired-like homeobox 2b
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SEMA3C sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C
SHC1 SHC (Src homology 2 domain containing) transforming protein 1
SIX1 SIX homeobox 1
TDG thymine-DNA glycosylase
VEGFA vascular endothelial growth factor A