Source: ALL

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 0.986 518 1000 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 34 4 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 2 2012 2012
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 2 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 2 0 2006 2008
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 2 0 2014 2017
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 2 0 2009 2018
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
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: 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: 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: 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 17 1 2006 2019
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 11 1 1993 2020
Entrez Id: 80198
Gene Symbol: MUS81
MUS81
MUS81 structure-specific endonuclease subunit 0.686 0.462 8.8E-13
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
disease 0.200 None 1.000 1 0 2007 2007
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
transforming growth factor beta 1 0.287 0.962 3.7E-02
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
disease 0.100 None 0.917 12 0 2003 2019
Entrez Id: 2006
Gene Symbol: ELN
ELN
elastin 0.415 0.885 2.1E-14
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
disease 0.100 None 1.000 11 0 1990 2019
Entrez Id: 1950
Gene Symbol: EGF
EGF
epidermal growth factor 0.357 0.923 8.5E-17
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
disease 0.100 None 1.000 10 0 1992 2013
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
Entrez Id: 185
Gene Symbol: AGTR1
AGTR1
angiotensin II receptor type 1 0.423 0.846 5.3E-04
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
disease 0.080 None 0.875 8 0 2008 2019
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
collagen type I alpha 2 chain 0.486 0.846 1.00
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
disease 0.060 None 1.000 6 0 1985 1990
Entrez Id: 183
Gene Symbol: AGT
AGT
angiotensinogen 0.367 0.923 5.0E-08
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
disease 0.050 None 1.000 5 0 2009 2019
Entrez Id: 7042
Gene Symbol: TGFB2
TGFB2
transforming growth factor beta 2 0.433 0.885 1.00
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
disease 0.040 None 1.000 4 0 2012 2018
Entrez Id: 1634
Gene Symbol: DCN
DCN
decorin 0.457 0.808 0.31
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
disease 0.040 None 1.000 4 0 1990 1993
Entrez Id: 4087
Gene Symbol: SMAD2
SMAD2
SMAD family member 2 0.456 0.808 1.00
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
disease 0.030 None 1.000 3 0 2018 2019
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
collagen type III alpha 1 chain 0.477 0.808 1.00
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
disease 0.030 None 1.000 3 0 1987 2012