Source: CLINVAR

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: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C1298820
Disease: Aneurysm of aortic root
Aneurysm of aortic root 		disease 0.120 None 1.000 0 7 2014 2016
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2 		transforming growth factor beta receptor 2 0.413 0.846 0.13
CUI: C1298820
Disease: Aneurysm of aortic root
Aneurysm of aortic root 		disease 0.100 None 1.000 1 1 2017 2017
Entrez Id: 118429
Gene Symbol: ANTXR2
ANTXR2 		ANTXR cell adhesion molecule 2 0.568 0.808 8.7E-02
CUI: C1298820
Disease: Aneurysm of aortic root
Aneurysm of aortic root 		disease 0.100 None 0 1
Entrez Id: 4629
Gene Symbol: MYH11
MYH11 		myosin heavy chain 11 0.528 0.731 0.77
CUI: C1298820
Disease: Aneurysm of aortic root
Aneurysm of aortic root 		disease 0.100 None 0 1
Entrez Id: 54820
Gene Symbol: NDE1
NDE1 		nudE neurodevelopment protein 1 0.608 0.462 6.7E-03
CUI: C1298820
Disease: Aneurysm of aortic root
Aneurysm of aortic root 		disease 0.100 None 0 1
Entrez Id: 55690
Gene Symbol: PACS1
PACS1 		phosphofurin acidic cluster sorting protein 1 0.603 0.615 1.00
CUI: C1298820
Disease: Aneurysm of aortic root
Aneurysm of aortic root 		disease 0.100 None 0 1
Entrez Id: 55823
Gene Symbol: VPS11
VPS11 		VPS11 core subunit of CORVET and HOPS complexes 0.633 0.654 1.9E-05
CUI: C1298820
Disease: Aneurysm of aortic root
Aneurysm of aortic root 		disease 0.100 None 0 1
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1 		transforming growth factor beta receptor 1 0.451 0.885 0.85
CUI: C1298820
Disease: Aneurysm of aortic root
Aneurysm of aortic root 		disease 0.100 None 0 1
Entrez Id: 9772
Gene Symbol: TMEM94
TMEM94 		transmembrane protein 94 0.628 0.654 2.8E-14
CUI: C1298820
Disease: Aneurysm of aortic root
Aneurysm of aortic root 		disease 0.100 None 0 2