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: 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: 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: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
Congenital arteriovenous malformation
disease 0.120 None 1.000 2 2 2005 2017
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
Entrez Id: 7010
Gene Symbol: TEK
TEK
TEK receptor tyrosine kinase 0.462 0.692 1.00
Congenital arteriovenous malformation
disease 0.110 None 1.000 1 0 2001 2001
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
notch receptor 1 0.369 0.885 1.00
Congenital arteriovenous malformation
disease 0.110 None 1.000 1 0 2015 2015
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: 2022
Gene Symbol: ENG
ENG
endoglin 0.446 0.846 1.00
Congenital arteriovenous malformation
disease 0.100 None 1.000 43 2 1996 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: 2177
Gene Symbol: FANCD2
FANCD2
FA complementation group D2 0.479 0.885 1.1E-30
Congenital arteriovenous malformation
disease 0.100 None 0 0
Entrez Id: 2178
Gene Symbol: FANCE
FANCE
FA complementation group E 0.553 0.808 1.5E-06
Congenital arteriovenous malformation
disease 0.100 None 0 0
Entrez Id: 2176
Gene Symbol: FANCC
FANCC
FA complementation group C 0.507 0.808 2.8E-13
Congenital arteriovenous malformation
disease 0.100 None 0 0
Entrez Id: 2187
Gene Symbol: FANCB
FANCB
FA complementation group B 0.468 0.769 1.00
Congenital arteriovenous malformation
disease 0.100 None 0 0
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
FA complementation group A 0.505 0.731 1.6E-68
Congenital arteriovenous malformation
disease 0.100 None 0 0
Entrez Id: 2188
Gene Symbol: FANCF
FANCF
FA complementation group F 0.535 0.731 0.46
Congenital arteriovenous malformation
disease 0.100 None 0 0
Entrez Id: 2189
Gene Symbol: FANCG
FANCG
FA complementation group G 0.556 0.769 2.5E-14
Congenital arteriovenous malformation
disease 0.100 None 0 0
Entrez Id: 3516
Gene Symbol: RBPJ
RBPJ
recombination signal binding protein for immunoglobulin kappa J region 0.518 0.808 1.00
Congenital arteriovenous malformation
disease 0.100 None 0 0
Entrez Id: 57697
Gene Symbol: FANCM
FANCM
FA complementation group M 0.543 0.731 2.4E-15
Congenital arteriovenous malformation
disease 0.100 None 0 0
Entrez Id: 55159
Gene Symbol: RFWD3
RFWD3
ring finger and WD repeat domain 3 0.569 0.731 3.5E-10
Congenital arteriovenous malformation
disease 0.100 None 0 0
Entrez Id: 3110
Gene Symbol: MNX1
MNX1
motor neuron and pancreas homeobox 1 0.555 0.615 0.79
Congenital arteriovenous malformation
disease 0.100 None 0 0
Entrez Id: 2990
Gene Symbol: GUSB
GUSB
glucuronidase beta 0.530 0.846 4.0E-08
Congenital arteriovenous malformation
disease 0.100 None 0 0
Entrez Id: 29089
Gene Symbol: UBE2T
UBE2T
ubiquitin conjugating enzyme E2 T 0.550 0.731 1.1E-05
Congenital arteriovenous malformation
disease 0.100 None 0 0
Entrez Id: 285203
Gene Symbol: EOGT
EOGT
EGF domain specific O-linked N-acetylglucosamine transferase 0.641 0.500 5.0E-09
Congenital arteriovenous malformation
disease 0.100 None 0 0
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
G protein subunit alpha q 0.516 0.808 0.98
Congenital arteriovenous malformation
disease 0.100 None 0 0