Source: ORPHANET

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: 4015
Gene Symbol: LOX
LOX 		lysyl oxidase 0.447 0.846 0.99
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		disease 0.700 strong 1.000 2 0 1990 2019
Entrez Id: 7043
Gene Symbol: TGFB3
TGFB3 		transforming growth factor beta 3 0.498 0.808 0.99
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		disease 0.700 limited 1.000 2 0 2006 2015
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 1 0 2016 2016
Entrez Id: 4144
Gene Symbol: MAT2A
MAT2A 		methionine adenosyltransferase 2A 0.615 0.654 1.00
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		disease 0.600 limited 1.000 1 0 2015 2015
Entrez Id: 5592
Gene Symbol: PRKG1
PRKG1 		protein kinase cGMP-dependent 1 0.603 0.769 1.00
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		disease 0.600 strong 1.000 1 0 1998 2016
Entrez Id: 7042
Gene Symbol: TGFB2
TGFB2 		transforming growth factor beta 2 0.433 0.885 1.00
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		disease 0.600 definitive 1.000 1 0 2012 2014
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 1 0 1996 2014
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 1 0 2015 2015
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		SMAD family member 4 0.401 0.808 1.00
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		disease 0.500 limited 1.000 1 0 2019 2019