Source: BEFREE

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: 5290
Gene Symbol: PIK3CA
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly
phenotype 0.370 strong 1.000 7 0 2012 2019
Entrez Id: 2022
Gene Symbol: ENG
ENG
endoglin 0.446 0.846 1.00
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly
phenotype 0.070 None 0.857 7 2 2004 2019
Entrez Id: 7010
Gene Symbol: TEK
TEK
TEK receptor tyrosine kinase 0.462 0.692 1.00
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly
phenotype 0.050 None 1.000 5 3 2011 2019
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
vascular endothelial growth factor A 0.266 0.923 2.4E-05
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly
phenotype 0.050 None 1.000 5 0 1996 2019
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
activin A receptor like type 1 0.493 0.769 9.7E-04
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly
phenotype 0.040 None 1.000 4 0 2006 2019
Entrez Id: 889
Gene Symbol: KRIT1
KRIT1
KRIT1 ankyrin repeat containing 0.500 0.808 6.9E-04
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly
phenotype 0.040 None 1.000 4 0 2004 2017
Entrez Id: 7450
Gene Symbol: VWF
VWF
von Willebrand factor 0.408 0.885 3.2E-25
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly
phenotype 0.040 None 1.000 4 0 2017 2019
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly
phenotype 0.030 None 1.000 3 0 2016 2018
Entrez Id: 998
Gene Symbol: CDC42
CDC42
cell division cycle 42 0.458 0.846 0.79
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly
phenotype 0.020 None 1.000 2 0 2018 2019
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma 0.320 0.885 1.4E-06
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly
phenotype 0.020 None 1.000 2 0 2018 2018
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta 0.322 0.885 1.00
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly
phenotype 0.020 None 1.000 2 0 2018 2018
Entrez Id: 63916
Gene Symbol: ELMO2
ELMO2
engulfment and cell motility 2 0.729 0.538 1.0E-05
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly
phenotype 0.020 None 1.000 2 0 2016 2019
Entrez Id: 5921
Gene Symbol: RASA1
RASA1
RAS p21 protein activator 1 0.481 0.885 1.00
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly
phenotype 0.020 None 1.000 2 0 2013 2014
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly
phenotype 0.020 None 1.000 2 0 2017 2017
Entrez Id: 5293
Gene Symbol: PIK3CD
PIK3CD
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta 0.319 0.885 1.00
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly
phenotype 0.020 None 1.000 2 0 2018 2018
Entrez Id: 2658
Gene Symbol: GDF2
GDF2
growth differentiation factor 2 0.529 0.731 2.5E-03
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly
phenotype 0.020 None 1.000 2 0 2013 2018
Entrez Id: 9314
Gene Symbol: KLF4
KLF4
Kruppel like factor 4 0.449 0.769 1.00
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly
phenotype 0.010 None 1.000 1 0 2019 2019
Entrez Id: 3586
Gene Symbol: IL10
IL10
interleukin 10 0.281 0.923 5.9E-03
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly
phenotype 0.010 None 1.000 1 0 2019 2019
Entrez Id: 7424
Gene Symbol: VEGFC
VEGFC
vascular endothelial growth factor C 0.459 0.769 0.50
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly
phenotype 0.010 None 1.000 1 0 2013 2013
Entrez Id: 60
Gene Symbol: ACTB
ACTB
actin beta 0.325 0.923 0.99
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly
phenotype 0.010 None 1.000 1 0 2002 2002
Entrez Id: 8828
Gene Symbol: NRP2
NRP2
neuropilin 2 0.539 0.615 8.1E-04
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly
phenotype 0.010 None 1.000 1 0 2013 2013
Entrez Id: 7075
Gene Symbol: TIE1
TIE1
tyrosine kinase with immunoglobulin like and EGF like domains 1 0.610 0.654 1.2E-19
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly
phenotype 0.010 None 1.000 1 0 2004 2004
Entrez Id: 6347
Gene Symbol: CCL2
CCL2
C-C motif chemokine ligand 2 0.321 0.962 0.61
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly
phenotype 0.010 None 1.000 1 0 1996 1996
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
TSC complex subunit 1 0.440 0.808 1.00
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly
phenotype 0.010 None 1.000 1 0 2015 2015
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly
phenotype 0.010 None 1.000 1 0 2018 2018