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: 472
Gene Symbol: ATM
ATM
ATM serine/threonine kinase 0.374 0.885 5.6E-47
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly
phenotype 0.010 None 1.000 1 0 2018 2018
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: 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: 2006
Gene Symbol: ELN
ELN
elastin 0.415 0.885 2.1E-14
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly
phenotype 0.010 None 1.000 1 0 2019 2019
Entrez Id: 5444
Gene Symbol: PON1
PON1
paraoxonase 1 0.409 0.885 9.8E-11
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly
phenotype 0.010 None 1.000 1 0 2015 2015
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: 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: 153
Gene Symbol: ADRB1
ADRB1
adrenoceptor beta 1 0.555 0.769 2.9E-06
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly
phenotype 0.010 None 1.000 1 0 2013 2013
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: 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: 55109
Gene Symbol: AGGF1
AGGF1
angiogenic factor with G-patch and FHA domains 1 0.650 0.462 2.7E-05
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly
phenotype 0.010 None 1.000 1 0 2009 2009
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: 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: 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: 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: 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: 2050
Gene Symbol: EPHB4
EPHB4
EPH receptor B4 0.524 0.692 1.3E-02
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly
phenotype 0.010 None 1.000 1 0 2017 2017
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: 2247
Gene Symbol: FGF2
FGF2
fibroblast growth factor 2 0.383 0.923 1.8E-02
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly
phenotype 0.010 None 1.000 1 0 2018 2018
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: 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: 2034
Gene Symbol: EPAS1
EPAS1
endothelial PAS domain protein 1 0.454 0.731 0.60
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly
phenotype 0.010 None 1.000 1 0 2016 2016
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: 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: 285
Gene Symbol: ANGPT2
ANGPT2
angiopoietin 2 0.410 0.846 0.83
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly
phenotype 0.010 None 1.000 1 0 2013 2013