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: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		disease 1.000 definitive 0.986 179 986 1973 2020
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2 		transforming growth factor beta receptor 2 0.413 0.846 0.13
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		disease 0.500 None 1.000 0 2 1994 2019
Entrez Id: 4053
Gene Symbol: LTBP2
LTBP2 		latent transforming growth factor beta binding protein 2 0.572 0.692 7.4E-04
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		disease 0.410 limited 1.000 0 1 2012 2012
Entrez Id: 2201
Gene Symbol: FBN2
FBN2 		fibrillin 2 0.505 0.808 1.00
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		disease 0.200 None 1.000 0 1 1993 2020
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1 		transforming growth factor beta receptor 1 0.451 0.885 0.85
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		disease 0.200 None 1.000 0 1 2006 2019
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		potassium voltage-gated channel subfamily Q member 1 0.485 0.769 4.5E-08
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		disease 0.100 None 0 1