Source: CLINGEN

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 0.469 0.690 1.00
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
disease 1.000 definitive 0.957 6 0 1973 2018
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
transforming growth factor beta receptor 2 0.437 0.793 0.15
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
disease 0.600 definitive 0.933 14 0 1995 2018
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
fibrillin 2 0.541 0.690 1.00
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
disease 0.480 limited 1.000 6 0 1994 2016
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
transforming growth factor beta receptor 1 0.495 0.690 0.83
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
disease 0.400 definitive 1.000 8 0 2006 2018
Entrez Id: 7042
Gene Symbol: TGFB2
TGFB2
transforming growth factor beta 2 0.480 0.793 1.00
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
disease 0.330 definitive 1.000 3 0 2012 2015
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
collagen type III alpha 1 chain 0.510 0.759 1.00
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
disease 0.320 definitive 1.000 10 0 1987 2016
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2
actin, alpha 2, smooth muscle, aorta 0.540 0.690 0.93
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
disease 0.320 definitive 1.000 7 0 2000 2016
Entrez Id: 4015
Gene Symbol: LOX
LOX
lysyl oxidase 0.488 0.793 0.99
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
disease 0.310 strong 1.000 5 0 1990 2016
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
SMAD family member 3 0.462 0.862 0.84
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
disease 0.310 definitive 1.000 5 0 2011 2015
Entrez Id: 4629
Gene Symbol: MYH11
MYH11
myosin heavy chain 11 0.567 0.483 0.88
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
disease 0.300 definitive 10 0 2006 2015
Entrez Id: 30008
Gene Symbol: EFEMP2
EFEMP2
EGF containing fibulin extracellular matrix protein 2 0.594 0.655 8.8E-03
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
disease 0.300 moderate 8 0 2006 2015
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
filamin A 0.456 0.793 1.00
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
disease 0.300 limited 7 0 2006 2016
Entrez Id: 8076
Gene Symbol: MFAP5
MFAP5
microfibril associated protein 5 0.690 0.483 4.9E-03
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
disease 0.300 moderate 7 0 1996 2015
Entrez Id: 4087
Gene Symbol: SMAD2
SMAD2
SMAD family member 2 0.496 0.724 1.00
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
disease 0.300 moderate 6 0 1996 2016
Entrez Id: 4638
Gene Symbol: MYLK
MYLK
myosin light chain kinase 0.565 0.621 7.5E-11
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
disease 0.300 strong 6 0 2011 2016
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
notch 1 0.415 0.759 1.00
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
disease 0.300 limited 4 0 2005 2016
Entrez Id: 7043
Gene Symbol: TGFB3
TGFB3
transforming growth factor beta 3 0.535 0.724 0.99
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
disease 0.300 limited 3 0 2006 2015
Entrez Id: 5592
Gene Symbol: PRKG1
PRKG1
protein kinase cGMP-dependent 1 0.575 0.724 1.00
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
disease 0.300 strong 3 0 1998 2017
Entrez Id: 10021
Gene Symbol: HCN4
HCN4
hyperpolarization activated cyclic nucleotide gated potassium channel 4 0.690 0.172 1.00
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
disease 0.300 limited 2 0 2013 2016
Entrez Id: 633
Gene Symbol: BGN
BGN
biglycan 0.523 0.655 0.44
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
disease 0.300 limited 2 0 2007 2018
Entrez Id: 81031
Gene Symbol: SLC2A10
SLC2A10
solute carrier family 2 member 10 0.594 0.621 2.4E-08
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
disease 0.300 limited 2 0 2003 2010
Entrez Id: 2301
Gene Symbol: FOXE3
FOXE3
forkhead box E3 0.630 0.448 0.56
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
disease 0.300 moderate 1 0 2016 2016
Entrez Id: 4144
Gene Symbol: MAT2A
MAT2A
methionine adenosyltransferase 2A 0.713 0.448 1.00
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
disease 0.300 limited 1 0 2015 2015