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: 1636
Gene Symbol: ACE
ACE 		angiotensin I converting enzyme 0.328 0.923 1.0E-37
CUI: C0003857
Disease: Congenital arteriovenous malformation
Congenital arteriovenous malformation 		disease 0.020 None 1.000 2 0 2017 2019
Entrez Id: 1906
Gene Symbol: EDN1
EDN1 		endothelin 1 0.380 0.846 0.46
CUI: C0003857
Disease: Congenital arteriovenous malformation
Congenital arteriovenous malformation 		disease 0.020 None 1.000 2 0 1997 2006
Entrez Id: 183
Gene Symbol: AGT
AGT 		angiotensinogen 0.367 0.923 5.0E-08
CUI: C0003857
Disease: Congenital arteriovenous malformation
Congenital arteriovenous malformation 		disease 0.020 None 1.000 2 0 2017 2019
Entrez Id: 2006
Gene Symbol: ELN
ELN 		elastin 0.415 0.885 2.1E-14
CUI: C0003857
Disease: Congenital arteriovenous malformation
Congenital arteriovenous malformation 		disease 0.020 None 1.000 2 0 2018 2019
Entrez Id: 7412
Gene Symbol: VCAM1
VCAM1 		vascular cell adhesion molecule 1 0.422 0.808 0.80
CUI: C0003857
Disease: Congenital arteriovenous malformation
Congenital arteriovenous malformation 		disease 0.020 None 1.000 2 0 2017 2017
Entrez Id: 923
Gene Symbol: CD6
CD6 		CD6 molecule 0.489 0.808 9.3E-05
CUI: C0003857
Disease: Congenital arteriovenous malformation
Congenital arteriovenous malformation 		disease 0.020 None 1.000 2 0 2018 2019
Entrez Id: 7450
Gene Symbol: VWF
VWF 		von Willebrand factor 0.408 0.885 3.2E-25
CUI: C0003857
Disease: Congenital arteriovenous malformation
Congenital arteriovenous malformation 		disease 0.020 None 1.000 2 0 2006 2014
Entrez Id: 1201
Gene Symbol: CLN3
CLN3 		CLN3 lysosomal/endosomal transmembrane protein, battenin 0.572 0.692 1.3E-07
CUI: C0003857
Disease: Congenital arteriovenous malformation
Congenital arteriovenous malformation 		disease 0.020 None 1.000 2 0 2014 2018
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB 		platelet derived growth factor receptor beta 0.416 0.846 0.90
CUI: C0003857
Disease: Congenital arteriovenous malformation
Congenital arteriovenous malformation 		disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 5175
Gene Symbol: PECAM1
PECAM1 		platelet and endothelial cell adhesion molecule 1 0.426 0.846
CUI: C0003857
Disease: Congenital arteriovenous malformation
Congenital arteriovenous malformation 		disease 0.010 None 1.000 1 0 2002 2002
Entrez Id: 90952
Gene Symbol: ESAM
ESAM 		endothelial cell adhesion molecule 0.722 0.385 0.20
CUI: C0003857
Disease: Congenital arteriovenous malformation
Congenital arteriovenous malformation 		disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 907
Gene Symbol: CCT
CCT 		cataract, congenital, total 0.588 0.769
CUI: C0003857
Disease: Congenital arteriovenous malformation
Congenital arteriovenous malformation 		disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1 		synaptic Ras GTPase activating protein 1 0.584 0.577 1.00
CUI: C0003857
Disease: Congenital arteriovenous malformation
Congenital arteriovenous malformation 		disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 8712
Gene Symbol: PAGE1
PAGE1 		PAGE family member 1 0.792 0.231 0.82
CUI: C0003857
Disease: Congenital arteriovenous malformation
Congenital arteriovenous malformation 		disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 5130
Gene Symbol: PCYT1A
PCYT1A 		phosphate cytidylyltransferase 1, choline, alpha 0.485 0.885 2.0E-05
CUI: C0003857
Disease: Congenital arteriovenous malformation
Congenital arteriovenous malformation 		disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 947
Gene Symbol: CD34
CD34 		CD34 molecule 0.368 0.808 5.0E-06
CUI: C0003857
Disease: Congenital arteriovenous malformation
Congenital arteriovenous malformation 		disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		notch receptor 3 0.435 0.808 0.41
CUI: C0003857
Disease: Congenital arteriovenous malformation
Congenital arteriovenous malformation 		disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 9961
Gene Symbol: MVP
MVP 		major vault protein 0.512 0.769 6.8E-08
CUI: C0003857
Disease: Congenital arteriovenous malformation
Congenital arteriovenous malformation 		disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 9722
Gene Symbol: NOS1AP
NOS1AP 		nitric oxide synthase 1 adaptor protein 0.608 0.423 0.61
CUI: C0003857
Disease: Congenital arteriovenous malformation
Congenital arteriovenous malformation 		disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 4363
Gene Symbol: ABCC1
ABCC1 		ATP binding cassette subfamily C member 1 0.445 0.808 1.2E-03
CUI: C0003857
Disease: Congenital arteriovenous malformation
Congenital arteriovenous malformation 		disease 0.010 None 1.000 1 0 2005 2005
Entrez Id: 4437
Gene Symbol: MSH3
MSH3 		mutS homolog 3 0.474 0.769 7.4E-31
CUI: C0003857
Disease: Congenital arteriovenous malformation
Congenital arteriovenous malformation 		disease 0.010 None 1.000 1 0 2005 2005
Entrez Id: 4602
Gene Symbol: MYB
MYB 		MYB proto-oncogene, transcription factor 0.490 0.692 0.82
CUI: C0003857
Disease: Congenital arteriovenous malformation
Congenital arteriovenous malformation 		disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 4842
Gene Symbol: NOS1
NOS1 		nitric oxide synthase 1 0.408 0.885 1.00
CUI: C0003857
Disease: Congenital arteriovenous malformation
Congenital arteriovenous malformation 		disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 9506
Gene Symbol: PAGE4
PAGE4 		PAGE family member 4 0.751 0.192 0.69
CUI: C0003857
Disease: Congenital arteriovenous malformation
Congenital arteriovenous malformation 		disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 4843
Gene Symbol: NOS2
NOS2 		nitric oxide synthase 2 0.364 0.923 4.0E-15
CUI: C0003857
Disease: Congenital arteriovenous malformation
Congenital arteriovenous malformation 		disease 0.010 None 1.000 1 0 2018 2018