Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 4629
Gene Symbol: MYH11
MYH11
myosin heavy chain 11 0.528 0.731 0.77
Familial thoracic aortic aneurysm and aortic dissection
disease 0.600 definitive 1.000 0 0 2005 2019
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2
actin alpha 2, smooth muscle 0.508 0.846 0.93
Familial thoracic aortic aneurysm and aortic dissection
disease 0.600 definitive 1.000 0 0 2000 2016
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
SMAD family member 3 0.415 0.923 0.80
Familial thoracic aortic aneurysm and aortic dissection
disease 0.600 definitive 1.000 0 0 1999 2019
Entrez Id: 7042
Gene Symbol: TGFB2
TGFB2
transforming growth factor beta 2 0.433 0.885 1.00
Familial thoracic aortic aneurysm and aortic dissection
disease 0.600 definitive 1.000 0 0 2012 2014
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
transforming growth factor beta receptor 1 0.451 0.885 0.85
Familial thoracic aortic aneurysm and aortic dissection
disease 0.600 definitive 1.000 0 0 2005 2019
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
transforming growth factor beta receptor 2 0.413 0.846 0.13
Familial thoracic aortic aneurysm and aortic dissection
disease 0.600 definitive 1.000 0 0 2003 2019
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
fibrillin 1 0.417 0.846 1.00
Familial thoracic aortic aneurysm and aortic dissection
disease 0.600 definitive 1.000 0 0 1973 2019
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
collagen type III alpha 1 chain 0.477 0.808 1.00
Familial thoracic aortic aneurysm and aortic dissection
disease 0.600 definitive 1.000 0 0 1988 2015
Entrez Id: 4015
Gene Symbol: LOX
LOX
lysyl oxidase 0.447 0.846 0.99
Familial thoracic aortic aneurysm and aortic dissection
disease 0.700 strong 1.000 0 0 1990 2019
Entrez Id: 4638
Gene Symbol: MYLK
MYLK
myosin light chain kinase 0.510 0.846 9.2E-12
Familial thoracic aortic aneurysm and aortic dissection
disease 0.600 strong 1.000 0 0 2010 2016
Entrez Id: 5592
Gene Symbol: PRKG1
PRKG1
protein kinase cGMP-dependent 1 0.603 0.769 1.00
Familial thoracic aortic aneurysm and aortic dissection
disease 0.600 strong 1.000 0 0 1998 2016
Entrez Id: 8076
Gene Symbol: MFAP5
MFAP5
microfibril associated protein 5 0.590 0.615 5.1E-03
Familial thoracic aortic aneurysm and aortic dissection
disease 0.600 moderate 1.000 0 0 1996 2014
Entrez Id: 4087
Gene Symbol: SMAD2
SMAD2
SMAD family member 2 0.456 0.808 1.00
Familial thoracic aortic aneurysm and aortic dissection
disease 0.500 moderate 1.000 0 0 1996 2015
Entrez Id: 2301
Gene Symbol: FOXE3
FOXE3
forkhead box E3 0.568 0.654 0.18
Familial thoracic aortic aneurysm and aortic dissection
disease 0.600 moderate 1.000 0 0 2016 2016
Entrez Id: 30008
Gene Symbol: EFEMP2
EFEMP2
EGF containing fibulin extracellular matrix protein 2 0.559 0.692 8.2E-03
Familial thoracic aortic aneurysm and aortic dissection
disease 0.500 moderate 1.000 0 0 2006 2015
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
polycystin 2, transient receptor potential cation channel 0.552 0.731 1.7E-04
Familial thoracic aortic aneurysm and aortic dissection
disease 0.300 limited 0 0
Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1
procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 0.579 0.731 1.5E-15
Familial thoracic aortic aneurysm and aortic dissection
disease 0.300 limited 0 0
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
notch receptor 1 0.369 0.885 1.00
Familial thoracic aortic aneurysm and aortic dissection
disease 0.600 limited 1.000 0 0 2005 2016
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
polycystin 1, transient receptor potential channel interacting 0.493 0.769 1.00
Familial thoracic aortic aneurysm and aortic dissection
disease 0.300 limited 0 0
Entrez Id: 633
Gene Symbol: BGN
BGN
biglycan 0.484 0.808 0.45
Familial thoracic aortic aneurysm and aortic dissection
disease 0.500 limited 1.000 0 0 2007 2017
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
activin A receptor like type 1 0.493 0.769 9.7E-04
Familial thoracic aortic aneurysm and aortic dissection
disease 0.300 limited 0 0
Entrez Id: 8985
Gene Symbol: PLOD3
PLOD3
procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 0.659 0.385 6.1E-13
Familial thoracic aortic aneurysm and aortic dissection
disease 0.300 limited 0 0
Entrez Id: 875
Gene Symbol: CBS
CBS
cystathionine beta-synthase 0.465 0.885 3.1E-05
Familial thoracic aortic aneurysm and aortic dissection
disease 0.300 limited 0 0
Entrez Id: 81794
Gene Symbol: ADAMTS10
ADAMTS10
ADAM metallopeptidase with thrombospondin type 1 motif 10 0.641 0.500 0.84
Familial thoracic aortic aneurysm and aortic dissection
disease 0.300 limited 0 0
Entrez Id: 81031
Gene Symbol: SLC2A10
SLC2A10
solute carrier family 2 member 10 0.550 0.615 1.6E-08
Familial thoracic aortic aneurysm and aortic dissection
disease 0.600 limited 1.000 0 0 2003 2010