Abnormal Carotid Artery Morphology Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
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 https://www.disgenet.org/browser/0/1/0/C4025211
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Genes

32 genes associated with the disease Abnormal Carotid Artery Morphology in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ATP7A ATPase, Cu++ transporting, alpha polypeptide
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
CLIP2 CAP-GLY domain containing linker protein 2
ELN elastin
ERCC4 excision repair cross-complementation group 4
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCF Fanconi anemia, complementation group F
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
FANCM Fanconi anemia, complementation group M
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
LIMK1 LIM domain kinase 1
MAD2L2 MAD2 mitotic arrest deficient-like 2 (yeast)
PALB2 partner and localizer of BRCA2
RAD51 RAD51 recombinase
RAD51C RAD51 paralog C
RFC2 replication factor C (activator 1) 2, 40kDa
RFWD3 ring finger and WD repeat domain 3
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLX4 SLX4 structure-specific endonuclease subunit
TBL2 transducin (beta)-like 2
UBE2T ubiquitin-conjugating enzyme E2T
XRCC2 X-ray repair complementing defective repair in Chinese hamster cells 2