Source: CURATED

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 60 991 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 1 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 1 1 2012 2012
Entrez Id: 4843
Gene Symbol: NOS2
NOS2 		nitric oxide synthase 2 0.364 0.923 4.0E-15
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		disease 0.310 None 1.000 1 0 2014 2017
Entrez Id: 4318
Gene Symbol: MMP9
MMP9 		matrix metallopeptidase 9 0.305 0.923 1.9E-17
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		disease 0.310 None 1.000 1 0 2008 2019
Entrez Id: 4313
Gene Symbol: MMP2
MMP2 		matrix metallopeptidase 2 0.333 0.923 0.84
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		disease 0.310 None 1.000 1 0 2006 2008
Entrez Id: 875
Gene Symbol: CBS
CBS 		cystathionine beta-synthase 0.465 0.885 3.1E-05
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		disease 0.310 None 1.000 1 0 2009 2018
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		superoxide dismutase 1 0.379 0.962 0.18
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		disease 0.300 None 1.000 1 0 2014 2014
Entrez Id: 6648
Gene Symbol: SOD2
SOD2 		superoxide dismutase 2 0.379 0.923 0.15
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		disease 0.300 None 1.000 1 0 2014 2014
Entrez Id: 3915
Gene Symbol: LAMC1
LAMC1 		laminin subunit gamma 1 0.628 0.654 1.00
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		disease 0.300 None 1.000 1 0 2014 2014
Entrez Id: 847
Gene Symbol: CAT
CAT 		catalase 0.359 0.962 1.6E-10
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		disease 0.300 None 1.000 1 0 2014 2014