aortic regurgitation Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An aortic valve disease that is characterized by leaking of the aortic valve of the heart causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle. (Human Disease Ontology, DOID_57)
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16 genes associated with the aortic regurgitation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
C12ORF57 chromosome 12 open reading frame 57
CEP57 centrosomal protein 57kDa
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
COL1A2 collagen, type I, alpha 2
D2HGDH D-2-hydroxyglutarate dehydrogenase
ELN elastin
FBN1 fibrillin 1
FLNA filamin A, alpha
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit
IDUA iduronidase, alpha-L-
MYH11 myosin, heavy chain 11, smooth muscle
PDSS1 prenyl (decaprenyl) diphosphate synthase, subunit 1
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SMAD3 SMAD family member 3
TTC37 tetratricopeptide repeat domain 37