Source: GENOMICS_ENGLAND

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: 4091
Gene Symbol: SMAD6
SMAD6 		SMAD family member 6 0.579 0.731 3.6E-20
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		disease 0.300 limited 0 0
Entrez Id: 1297
Gene Symbol: COL9A1
COL9A1 		collagen type IX alpha 1 chain 0.566 0.731 3.1E-19
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
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
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		disease 0.300 limited 0 0
Entrez Id: 2006
Gene Symbol: ELN
ELN 		elastin 0.415 0.885 2.1E-14
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		disease 0.500 limited 1.000 0 0 2015 2015
Entrez Id: 8985
Gene Symbol: PLOD3
PLOD3 		procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 0.659 0.385 6.1E-13
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		disease 0.300 limited 0 0
Entrez Id: 4638
Gene Symbol: MYLK
MYLK 		myosin light chain kinase 0.510 0.846 9.2E-12
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		disease 0.600 strong 1.000 0 0 2010 2016
Entrez Id: 80781
Gene Symbol: COL18A1
COL18A1 		collagen type XVIII alpha 1 chain 0.449 0.808 1.7E-10
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
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
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
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
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		disease 0.600 limited 1.000 0 0 2003 2010
Entrez Id: 26229
Gene Symbol: B3GAT3
B3GAT3 		beta-1,3-glucuronyltransferase 3 0.621 0.538 2.7E-08
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
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
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		disease 0.300 limited 0 0
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		polycystin 2, transient receptor potential cation channel 0.552 0.731 1.7E-04
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		disease 0.300 limited 0 0
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		activin A receptor like type 1 0.493 0.769 9.7E-04
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		disease 0.300 limited 0 0
Entrez Id: 11117
Gene Symbol: EMILIN1
EMILIN1 		elastin microfibril interfacer 1 0.743 0.269 4.4E-03
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		disease 0.300 limited 0 0
Entrez Id: 8076
Gene Symbol: MFAP5
MFAP5 		microfibril associated protein 5 0.590 0.615 5.1E-03
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		disease 0.600 moderate 1.000 0 0 1996 2014
Entrez Id: 30008
Gene Symbol: EFEMP2
EFEMP2 		EGF containing fibulin extracellular matrix protein 2 0.559 0.692 8.2E-03
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		disease 0.500 moderate 1.000 0 0 2006 2015
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2 		transforming growth factor beta receptor 2 0.413 0.846 0.13
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		disease 0.600 definitive 1.000 0 0 2003 2019
Entrez Id: 2301
Gene Symbol: FOXE3
FOXE3 		forkhead box E3 0.568 0.654 0.18
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		disease 0.600 moderate 1.000 0 0 2016 2016
Entrez Id: 1628
Gene Symbol: DBP
DBP 		D-box binding PAR bZIP transcription factor 0.556 0.731 0.23
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		disease 0.300 limited 0 0
Entrez Id: 140628
Gene Symbol: GATA5
GATA5 		GATA binding protein 5 0.578 0.615 0.28
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
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
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		disease 0.500 limited 1.000 0 0 2007 2017
Entrez Id: 4629
Gene Symbol: MYH11
MYH11 		myosin heavy chain 11 0.528 0.731 0.77
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		disease 0.600 definitive 1.000 0 0 2005 2019
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3 		SMAD family member 3 0.415 0.923 0.80
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		disease 0.600 definitive 1.000 0 0 1999 2019
Entrez Id: 81794
Gene Symbol: ADAMTS10
ADAMTS10 		ADAM metallopeptidase with thrombospondin type 1 motif 10 0.641 0.500 0.84
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		disease 0.300 limited 0 0
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1 		transforming growth factor beta receptor 1 0.451 0.885 0.85
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		disease 0.600 definitive 1.000 0 0 2005 2019