coarctation of aorta Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Coarctation of the aorta is a narrowing or constriction of a segment of the aorta. (Human Phenotype Ontology, HP_0001680)
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24 genes associated with the coarctation of aorta phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCD4 ATP-binding cassette, sub-family D (ALD), member 4
ADK adenosine kinase
CEP57 centrosomal protein 57kDa
DHCR7 7-dehydrocholesterol reductase
GLI3 GLI family zinc finger 3
HRAS Harvey rat sarcoma viral oncogene homolog
JAG1 jagged 1
KDM6A lysine (K)-specific demethylase 6A
KMT2D lysine (K)-specific methyltransferase 2D
KRAS Kirsten rat sarcoma viral oncogene homolog
MKS1 Meckel syndrome, type 1
MYH7 myosin, heavy chain 7, cardiac muscle, beta
NR2F2 nuclear receptor subfamily 2, group F, member 2
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RBM8A RNA binding motif protein 8A
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
RPS19 ribosomal protein S19
SMAD4 SMAD family member 4
SMAD6 SMAD family member 6
SRCAP Snf2-related CREBBP activator protein
STRA6 stimulated by retinoic acid 6
TALDO1 transaldolase 1
TBX20 T-box 20
UBE3B ubiquitin protein ligase E3B