Source: CTD_human

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: C4721845
Disease: Marfan Syndrome, Type I
Marfan Syndrome, Type I
disease 0.530 None 1.000 7 0 1992 2012
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
transforming growth factor beta receptor 2 0.413 0.846 0.13
CUI: C4721845
Disease: Marfan Syndrome, Type I
Marfan Syndrome, Type I
disease 0.320 None 1.000 1 0 2004 2009
Entrez Id: 3915
Gene Symbol: LAMC1
LAMC1
laminin subunit gamma 1 0.628 0.654 1.00
CUI: C4721845
Disease: Marfan Syndrome, Type I
Marfan Syndrome, Type I
disease 0.300 None 1.000 1 0 2014 2014
Entrez Id: 4313
Gene Symbol: MMP2
MMP2
matrix metallopeptidase 2 0.333 0.923 0.84
CUI: C4721845
Disease: Marfan Syndrome, Type I
Marfan Syndrome, Type I
disease 0.300 None 1.000 1 0 2008 2008
Entrez Id: 4318
Gene Symbol: MMP9
MMP9
matrix metallopeptidase 9 0.305 0.923 1.9E-17
CUI: C4721845
Disease: Marfan Syndrome, Type I
Marfan Syndrome, Type I
disease 0.300 None 1.000 1 0 2008 2008
Entrez Id: 4843
Gene Symbol: NOS2
NOS2
nitric oxide synthase 2 0.364 0.923 4.0E-15
CUI: C4721845
Disease: Marfan Syndrome, Type I
Marfan Syndrome, Type I
disease 0.300 None 1.000 1 0 2014 2014
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
superoxide dismutase 1 0.379 0.962 0.18
CUI: C4721845
Disease: Marfan Syndrome, Type I
Marfan Syndrome, Type I
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: C4721845
Disease: Marfan Syndrome, Type I
Marfan Syndrome, Type I
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: C4721845
Disease: Marfan Syndrome, Type I
Marfan Syndrome, Type I
disease 0.300 None 1.000 1 0 2014 2014