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: 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: 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: 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: 26229
Gene Symbol: B3GAT3
B3GAT3
beta-1,3-glucuronyltransferase 3 0.621 0.538 2.7E-08
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: 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: 1301
Gene Symbol: COL11A1
COL11A1
collagen type XI alpha 1 chain 0.495 0.846 1.00
Familial thoracic aortic aneurysm and aortic dissection
disease 0.300 limited 0 0
Entrez Id: 80781
Gene Symbol: COL18A1
COL18A1
collagen type XVIII alpha 1 chain 0.449 0.808 1.7E-10
Familial thoracic aortic aneurysm and aortic dissection
disease 0.300 limited 0 0
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
collagen type I alpha 1 chain 0.430 0.808 1.00
Familial thoracic aortic aneurysm and aortic dissection
disease 0.400 limited 0 0
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
collagen type I alpha 2 chain 0.486 0.846 1.00
Familial thoracic aortic aneurysm and aortic dissection
disease 0.300 limited 0 0
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: 1282
Gene Symbol: COL4A1
COL4A1
collagen type IV alpha 1 chain 0.484 0.731 1.00
Familial thoracic aortic aneurysm and aortic dissection
disease 0.300 limited 0 0
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
collagen type IV alpha 5 chain 0.553 0.654 1.00
Familial thoracic aortic aneurysm and aortic dissection
disease 0.300 limited 0 0
Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1
collagen type V alpha 1 chain 0.536 0.769 1.00
Familial thoracic aortic aneurysm and aortic dissection
disease 0.400 limited 0 0
Entrez Id: 1290
Gene Symbol: COL5A2
COL5A2
collagen type V alpha 2 chain 0.568 0.731 1.00
Familial thoracic aortic aneurysm and aortic dissection
disease 0.400 limited 0 0
Entrez Id: 1297
Gene Symbol: COL9A1
COL9A1
collagen type IX alpha 1 chain 0.566 0.731 3.1E-19
Familial thoracic aortic aneurysm and aortic dissection
disease 0.300 limited 0 0
Entrez Id: 1298
Gene Symbol: COL9A2
COL9A2
collagen type IX alpha 2 chain 0.572 0.769 1.0E-08
Familial thoracic aortic aneurysm and aortic dissection
disease 0.300 limited 0 0
Entrez Id: 1628
Gene Symbol: DBP
DBP
D-box binding PAR bZIP transcription factor 0.556 0.731 0.23
Familial thoracic aortic aneurysm and aortic dissection
disease 0.300 limited 0 0
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: 2006
Gene Symbol: ELN
ELN
elastin 0.415 0.885 2.1E-14
Familial thoracic aortic aneurysm and aortic dissection
disease 0.500 limited 1.000 0 0 2015 2015
Entrez Id: 11117
Gene Symbol: EMILIN1
EMILIN1
elastin microfibril interfacer 1 0.743 0.269 4.4E-03
Familial thoracic aortic aneurysm and aortic dissection
disease 0.300 limited 0 0
Entrez Id: 2022
Gene Symbol: ENG
ENG
endoglin 0.446 0.846 1.00
Familial thoracic aortic aneurysm and aortic dissection
disease 0.300 limited 0 0
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: 2201
Gene Symbol: FBN2
FBN2
fibrillin 2 0.505 0.808 1.00
Familial thoracic aortic aneurysm and aortic dissection
disease 0.500 limited 1.000 0 0 1994 2015
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
filamin A 0.419 0.846 1.00
Familial thoracic aortic aneurysm and aortic dissection
disease 0.500 limited 1.000 0 0 2006 2016