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: 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: 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: 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: 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: 207
Gene Symbol: AKT1
AKT1
AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly
phenotype 0.010 None 1.000 1 0 2017 2017
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
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: 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: 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
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: 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: 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: 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: 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: 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: 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: 2324
Gene Symbol: FLT4
FLT4
fms related receptor tyrosine kinase 4 0.457 0.808 1.00
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly
phenotype 0.010 None 1.000 1 0 2013 2013
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: 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: 2776
Gene Symbol: GNAQ
GNAQ
G protein subunit alpha q 0.516 0.808 0.98
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly
phenotype 0.010 None 1.000 1 0 2017 2017
Entrez Id: 156
Gene Symbol: GRK2
GRK2
G protein-coupled receptor kinase 2 0.532 0.654 1.00
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly
phenotype 0.010 None 1.000 1 0 2013 2013
Entrez Id: 3091
Gene Symbol: HIF1A
HIF1A
hypoxia inducible factor 1 subunit alpha 0.327 0.923 0.98
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly
phenotype 0.010 None 1.000 1 0 2016 2016
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: 3791
Gene Symbol: KDR
KDR
kinase insert domain receptor 0.378 0.885 1.00
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly
phenotype 0.010 None 1.000 1 0 2013 2013