Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
P51787 potassium voltage-gated channel subfamily Q member 1 Ion channel 281 0.485 0.769 4.5E-08 0.100 None 0 1
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
P35555 fibrillin 1 Calcium-binding protein 552 0.417 0.846 1.00 1.000 definitive 0.986 518 1000 1973 2020
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
P08123 collagen type I alpha 2 chain 271 0.486 0.846 1.00 0.060 None 1.000 6 0 1985 1990
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
P02461 collagen type III alpha 1 chain 301 0.477 0.808 1.00 0.030 None 1.000 3 0 1987 2012
Entrez Id: 2006
Gene Symbol: ELN
ELN
P15502 elastin 545 0.415 0.885 2.1E-14 0.100 None 1.000 11 0 1990 2019
Entrez Id: 1634
Gene Symbol: DCN
DCN
P07585 decorin 297 0.457 0.808 0.31 0.040 None 1.000 4 0 1990 1993
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
P02458 collagen type II alpha 1 chain 496 0.444 0.846 1.00 0.010 None 1.000 1 0 1990 1990
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
P02452 collagen type I alpha 1 chain 487 0.430 0.808 1.00 0.010 None 1.000 1 0 1990 1990
Entrez Id: 1950
Gene Symbol: EGF
EGF
P01133 epidermal growth factor 774 0.357 0.923 8.5E-17 0.100 None 1.000 10 0 1992 2013
Entrez Id: 2201
Gene Symbol: FBN2
FBN2
P35556 fibrillin 2 Calcium-binding protein 211 0.505 0.808 1.00 0.200 None 1.000 11 1 1993 2020
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
P37173 transforming growth factor beta receptor 2 Kinase 502 0.413 0.846 0.13 0.500 None 1.000 34 4 1994 2019
Entrez Id: 4015
Gene Symbol: LOX
LOX
P28300 lysyl oxidase 328 0.447 0.846 0.99 0.010 None 1.000 1 0 1994 1994
Entrez Id: 4236
Gene Symbol: MFAP1
MFAP1
P55081 microfibril associated protein 1 Extracellular structure 357 0.431 0.846 0.80 0.010 None 1.000 1 0 1997 1997
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
Q9UM47 notch receptor 3 418 0.435 0.808 0.41 0.010 None 1.000 1 0 1999 1999
Entrez Id: 632
Gene Symbol: BGLAP
BGLAP
P02818 bone gamma-carboxyglutamate protein 274 0.462 0.846 4.6E-08 0.010 None 1.000 1 0 1999 1999
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
P98161 polycystin 1, transient receptor potential channel interacting 217 0.493 0.769 1.00 0.020 None 1.000 2 0 2000 2014
Entrez Id: 7057
Gene Symbol: THBS1
THBS1
P07996 thrombospondin 1 480 0.407 0.885 1.00 0.010 None 1.000 1 0 2001 2001
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
P15692 vascular endothelial growth factor A Signaling 1899 0.266 0.923 2.4E-05 0.010 None 1.000 1 0 2001 2001
Entrez Id: 22915
Gene Symbol: MMRN1
MMRN1
Q13201 multimerin 1 272 0.465 0.846 2.1E-25 0.020 None 1.000 2 0 2002 2005
Entrez Id: 5468
Gene Symbol: PPARG
PPARG
P37231 peroxisome proliferator activated receptor gamma Nuclear receptor 877 0.358 0.885 2.9E-02 0.020 None 1.000 2 0 2002 2017
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
P01137 transforming growth factor beta 1 Signaling 1558 0.287 0.962 3.7E-02 0.100 None 0.917 12 0 2003 2019
Entrez Id: 27239
Gene Symbol: GPR162
GPR162
Q16538 G protein-coupled receptor 162 G-protein coupled receptor 51 0.631 0.654 9.4E-03 0.010 None 1.000 1 0 2003 2003
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
P42898 methylenetetrahydrofolate reductase 985 0.337 0.885 3.2E-10 0.010 None 1.000 1 1 2003 2003
Entrez Id: 84467
Gene Symbol: FBN3
FBN3
Q75N90 fibrillin 3 Calcium-binding protein 13 0.805 0.269 5.4E-42 0.010 None 1.000 1 0 2004 2004
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
P36897 transforming growth factor beta receptor 1 Kinase 347 0.451 0.885 0.85 0.200 None 1.000 17 1 2006 2019