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: 151188
Gene Symbol: ARL6IP6
ARL6IP6
ADP ribosylation factor like GTPase 6 interacting protein 6 0.686 0.615 1.8E-02
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly
phenotype 0.010 None 1.000 1 0 2015 2015
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly
phenotype 0.010 None 1.000 1 0 2017 2017
Entrez Id: 11235
Gene Symbol: PDCD10
PDCD10
programmed cell death 10 0.631 0.692 0.96
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly
phenotype 0.010 None 1.000 1 0 2019 2019
Entrez Id: 2739
Gene Symbol: GLO1
GLO1
glyoxalase I 0.537 0.769 9.7E-07
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly
phenotype 0.010 None 1.000 1 0 2015 2015
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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