Aortic Coarctation Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0003492
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Genes

85 genes associated with the disease Aortic Coarctation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACE angiotensin I converting enzyme
ACE2 angiotensin I converting enzyme 2
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR1 angiotensin II receptor, type 1
AMER1 APC membrane recruitment protein 1
ARID1A AT rich interactive domain 1A (SWI-like)
ARSD arylsulfatase D
BRAF B-Raf proto-oncogene, serine/threonine kinase
BUB1 BUB1 mitotic checkpoint serine/threonine kinase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
BUB3 BUB3 mitotic checkpoint protein
CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
CEP57 centrosomal protein 57kDa
CHD7 chromodomain helicase DNA binding protein 7
CRELD1 cysteine-rich with EGF-like domains 1
DHCR7 7-dehydrocholesterol reductase
DSG4 desmoglein 4
DYNC2LI1 dynein, cytoplasmic 2, light intermediate chain 1
EDN1 endothelin 1
EHMT1 euchromatic histone-lysine N-methyltransferase 1
FGFR1 fibroblast growth factor receptor 1
FLI1 Fli-1 proto-oncogene, ETS transcription factor
FOXC1 forkhead box C1
GATA4 GATA binding protein 4
GATA5 GATA binding protein 5
GATA6 GATA binding protein 6
GDF1 growth differentiation factor 1
GJA5 gap junction protein, alpha 5, 40kDa
GJA8 gap junction protein, alpha 8, 50kDa
GLI3 GLI family zinc finger 3
HRAS Harvey rat sarcoma viral oncogene homolog
IL13 interleukin 13
JAG1 jagged 1
KDM6A lysine (K)-specific demethylase 6A
KMT2D lysine (K)-specific methyltransferase 2D
KRAS Kirsten rat sarcoma viral oncogene homolog
LGALS3 lectin, galactoside-binding, soluble, 3
LZTR1 leucine-zipper-like transcription regulator 1
MAP2K1 mitogen-activated protein kinase kinase 1
MAS1 MAS1 proto-oncogene, G protein-coupled receptor
MATR3 matrin 3
MCTP2 multiple C2 domains, transmembrane 2
MED12 mediator complex subunit 12
MEIS2 Meis homeobox 2
MKS1 Meckel syndrome, type 1
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP2 matrix metallopeptidase 2
MYH6 myosin, heavy chain 6, cardiac muscle, alpha
NKX2-5 NK2 homeobox 5
NKX2-6 NK2 homeobox 6
NOTCH1 notch 1
NPTXR neuronal pentraxin receptor
NR2F2 nuclear receptor subfamily 2, group F, member 2
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
PAH phenylalanine hydroxylase
PPP1CB protein phosphatase 1, catalytic subunit, beta isozyme
PRKCA protein kinase C, alpha
PRKCB protein kinase C, beta
PRRT2 proline-rich transmembrane protein 2
PTH1R parathyroid hormone 1 receptor
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PUF60 poly-U binding splicing factor 60KDa
RAP1A RAP1A, member of RAS oncogene family
RAP1B RAP1B, member of RAS oncogene family
RPS19 ribosomal protein S19
SMAD4 SMAD family member 4
SMAD6 SMAD family member 6
SOS2 son of sevenless homolog 2 (Drosophila)
SPECC1L sperm antigen with calponin homology and coiled-coil domains 1-like
SRY sex determining region Y
STRA6 stimulated by retinoic acid 6
TALDO1 transaldolase 1
TBL1Y transducin (beta)-like 1, Y-linked
TBX1 T-box 1
TBX5 T-box 5
TGDS TDP-glucose 4,6-dehydratase
TRAF7 TNF receptor-associated factor 7, E3 ubiquitin protein ligase
TRIP13 thyroid hormone receptor interactor 13
TRPM2 transient receptor potential cation channel, subfamily M, member 2
TRRAP transformation/transcription domain-associated protein
UBE3B ubiquitin protein ligase E3B
UBL5 ubiquitin-like 5
WDPCP WD repeat containing planar cell polarity effector
WT1 Wilms tumor 1
ZNF148 zinc finger protein 148