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: 2776
Gene Symbol: GNAQ
GNAQ
G protein subunit alpha q 0.516 0.808 0.98
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder)
disease 0.660 limited 0.833 6 1 2016 2020
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder)
disease 0.130 None 1.000 3 1 2015 2020
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
signal transducer and activator of transcription 1 0.399 0.885 1.00
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder)
disease 0.100 None 1.000 26 6 2011 2020
Entrez Id: 3605
Gene Symbol: IL17A
IL17A
interleukin 17A 0.324 0.923 4.3E-02
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder)
disease 0.100 None 1.000 12 0 2010 2019
Entrez Id: 5921
Gene Symbol: RASA1
RASA1
RAS p21 protein activator 1 0.481 0.885 1.00
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder)
disease 0.100 None 1.000 11 1 2003 2019
Entrez Id: 326
Gene Symbol: AIRE
AIRE
autoimmune regulator 0.516 0.808 4.0E-12
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder)
disease 0.090 None 0.889 9 0 2009 2018
Entrez Id: 50616
Gene Symbol: IL22
IL22
interleukin 22 0.393 0.885 1.9E-04
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder)
disease 0.040 None 1.000 4 0 2014 2018
Entrez Id: 23765
Gene Symbol: IL17RA
IL17RA
interleukin 17 receptor A 0.529 0.808 3.6E-04
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder)
disease 0.040 None 1.000 4 1 2012 2016
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
signal transducer and activator of transcription 3 0.320 0.923 1.00
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder)
disease 0.030 None 1.000 3 0 2015 2015
Entrez Id: 112744
Gene Symbol: IL17F
IL17F
interleukin 17F 0.480 0.808 3.9E-02
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder)
disease 0.030 None 1.000 3 0 2013 2017
Entrez Id: 3594
Gene Symbol: IL12RB1
IL12RB1
interleukin 12 receptor subunit beta 1 0.555 0.731 9.4E-15
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder)
disease 0.020 None 1.000 2 0 2012 2015
Entrez Id: 10758
Gene Symbol: TRAF3IP2
TRAF3IP2
TRAF3 interacting protein 2 0.585 0.692 1.6E-09
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder)
disease 0.020 None 1.000 2 1 2013 2019
Entrez Id: 64428
Gene Symbol: CIAO3
CIAO3
cytosolic iron-sulfur assembly component 3 0.700 0.462 1.9E-09
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder)
disease 0.010 None < 0.001 1 0 2017 2017
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
myosin heavy chain 9 0.505 0.808 1.00
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder)
disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 7450
Gene Symbol: VWF
VWF
von Willebrand factor 0.408 0.885 3.2E-25
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder)
disease 0.010 None 1.000 1 0 2005 2005
Entrez Id: 7097
Gene Symbol: TLR2
TLR2
toll like receptor 2 0.361 0.923 1.0E-06
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder)
disease 0.010 None 1.000 1 0 2003 2003
Entrez Id: 7010
Gene Symbol: TEK
TEK
TEK receptor tyrosine kinase 0.462 0.692 1.00
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder)
disease 0.010 None 1.000 1 0 2005 2005
Entrez Id: 55190
Gene Symbol: NUDT11
NUDT11
nudix hydrolase 11 0.647 0.615 0.10
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder)
disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 5599
Gene Symbol: MAPK8
MAPK8
mitogen-activated protein kinase 8 0.397 0.885 1.00
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder)
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 6863
Gene Symbol: TAC1
TAC1
tachykinin precursor 1 0.424 0.923 0.75
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder)
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 4099
Gene Symbol: MAG
MAG
myelin associated glycoprotein 0.579 0.692 0.49
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder)
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
LDL receptor related protein 2 0.491 0.846 1.00
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder)
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 3820
Gene Symbol: KLRB1
KLRB1
killer cell lectin like receptor B1 0.601 0.615 2.4E-07
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder)
disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 1235
Gene Symbol: CCR6
CCR6
C-C motif chemokine receptor 6 0.485 0.808 5.8E-03
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder)
disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 152100
Gene Symbol: CMC1
CMC1
C-X9-C motif containing 1 0.711 0.308 0.11
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder)
disease 0.010 None 1.000 1 0 2003 2003