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: 94
Gene Symbol: ACVRL1
ACVRL1
activin A receptor like type 1 0.493 0.769 9.7E-04
Congenital arteriovenous malformation
disease 0.100 None 0.977 43 0 2000 2020
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
vascular endothelial growth factor A 0.266 0.923 2.4E-05
Congenital arteriovenous malformation
disease 0.100 None 1.000 15 0 1996 2020
Entrez Id: 6590
Gene Symbol: SLPI
SLPI
secretory leukocyte peptidase inhibitor 0.449 0.846 9.0E-04
Congenital arteriovenous malformation
disease 0.100 None 1.000 14 0 2005 2019
Entrez Id: 5921
Gene Symbol: RASA1
RASA1
RAS p21 protein activator 1 0.481 0.885 1.00
Congenital arteriovenous malformation
disease 0.500 None 0.846 13 0 2003 2019
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
SMAD family member 4 0.401 0.808 1.00
Congenital arteriovenous malformation
disease 0.070 None 1.000 7 0 2004 2019
Entrez Id: 6611
Gene Symbol: SMS
SMS
spermine synthase 0.491 0.846 0.97
Congenital arteriovenous malformation
disease 0.040 None 1.000 4 0 2017 2020
Entrez Id: 348
Gene Symbol: APOE
APOE
apolipoprotein E 0.338 0.962 1.9E-03
Congenital arteriovenous malformation
disease 0.040 None 1.000 4 0 2006 2018
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
mitogen-activated protein kinase kinase 1 0.439 0.846 0.90
Congenital arteriovenous malformation
disease 0.030 None 1.000 3 0 2017 2019
Entrez Id: 2658
Gene Symbol: GDF2
GDF2
growth differentiation factor 2 0.529 0.731 2.5E-03
Congenital arteriovenous malformation
disease 0.030 None 1.000 3 0 2018 2019
Entrez Id: 140821
Gene Symbol: RSS
RSS
Russell Silver syndrome 0.578 0.692
Congenital arteriovenous malformation
disease 0.030 None 1.000 3 0 2017 2020
Entrez Id: 285
Gene Symbol: ANGPT2
ANGPT2
angiopoietin 2 0.410 0.846 0.83
Congenital arteriovenous malformation
disease 0.030 None 1.000 3 0 2016 2019
Entrez Id: 64321
Gene Symbol: SOX17
SOX17
SRY-box transcription factor 17 0.555 0.615 0.88
Congenital arteriovenous malformation
disease 0.020 None 1.000 2 0 2015 2016
Entrez Id: 25859
Gene Symbol: PART1
PART1
prostate androgen-regulated transcript 1 0.483 0.885
Congenital arteriovenous malformation
disease 0.020 None 1.000 2 0 2017 2018
Entrez Id: 2152
Gene Symbol: F3
F3
coagulation factor III, tissue factor 0.415 0.846 1.9E-02
Congenital arteriovenous malformation
disease 0.020 None 1.000 2 0 2013 2017
Entrez Id: 20
Gene Symbol: ABCA2
ABCA2
ATP binding cassette subfamily A member 2 0.670 0.615 1.00
Congenital arteriovenous malformation
disease 0.020 None 1.000 2 0 2018 2019
Entrez Id: 55181
Gene Symbol: SMG8
SMG8
SMG8 nonsense mediated mRNA decay factor 0.780 0.346 7.3E-03
Congenital arteriovenous malformation
disease 0.020 None 1.000 2 0 2018 2019
Entrez Id: 4313
Gene Symbol: MMP2
MMP2
matrix metallopeptidase 2 0.333 0.923 0.84
Congenital arteriovenous malformation
disease 0.020 None 1.000 2 0 2014 2019
Entrez Id: 3791
Gene Symbol: KDR
KDR
kinase insert domain receptor 0.378 0.885 1.00
Congenital arteriovenous malformation
disease 0.020 None 1.000 2 0 2018 2020
Entrez Id: 3383
Gene Symbol: ICAM1
ICAM1
intercellular adhesion molecule 1 0.364 0.962 3.5E-02
Congenital arteriovenous malformation
disease 0.020 None 0.500 2 0 1999 2017
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
Congenital arteriovenous malformation
disease 0.120 None 1.000 2 0 2017 2018
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta 0.322 0.885 1.00
Congenital arteriovenous malformation
disease 0.020 None 1.000 2 0 2017 2018
Entrez Id: 308
Gene Symbol: ANXA5
ANXA5
annexin A5 0.458 0.769 3.8E-15
Congenital arteriovenous malformation
disease 0.020 None 1.000 2 0 2018 2019
Entrez Id: 5293
Gene Symbol: PIK3CD
PIK3CD
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta 0.319 0.885 1.00
Congenital arteriovenous malformation
disease 0.020 None 1.000 2 0 2017 2018
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma 0.320 0.885 1.4E-06
Congenital arteriovenous malformation
disease 0.020 None 1.000 2 0 2017 2018
Entrez Id: 207
Gene Symbol: AKT1
AKT1
AKT serine/threonine kinase 1 0.311 0.962 0.98
Congenital arteriovenous malformation
disease 0.120 None 1.000 2 0 2017 2018