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: 57674
Gene Symbol: RNF213
RNF213
ring finger protein 213 0.628 0.538 4.9E-55
CUI: C2931384
Disease: Moyamoya disease 1
Moyamoya disease 1
disease 0.500 None 0.962 80 7 2011 2020
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2
actin alpha 2, smooth muscle 0.508 0.846 0.93
CUI: C2931384
Disease: Moyamoya disease 1
Moyamoya disease 1
disease 0.390 None 1.000 9 2 2009 2018
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
vascular endothelial growth factor A 0.266 0.923 2.4E-05
CUI: C2931384
Disease: Moyamoya disease 1
Moyamoya disease 1
disease 0.070 None 1.000 7 0 2011 2019
Entrez Id: 2010
Gene Symbol: EMD
EMD
emerin 0.542 0.731 0.93
CUI: C2931384
Disease: Moyamoya disease 1
Moyamoya disease 1
disease 0.070 None 1.000 7 0 2017 2019
Entrez Id: 2656
Gene Symbol: GCY
GCY
growth control, Y chromosome influenced 0.631 0.615
CUI: C2931384
Disease: Moyamoya disease 1
Moyamoya disease 1
disease 0.070 None 1.000 7 0 2017 2019
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
transforming growth factor beta 1 0.287 0.962 3.7E-02
CUI: C2931384
Disease: Moyamoya disease 1
Moyamoya disease 1
disease 0.040 None 0.750 4 1 1998 2013
Entrez Id: 1825
Gene Symbol: DSC3
DSC3
desmocollin 3 0.570 0.808 2.3E-21
CUI: C2931384
Disease: Moyamoya disease 1
Moyamoya disease 1
disease 0.040 None 1.000 4 0 2017 2019
Entrez Id: 435
Gene Symbol: ASL
ASL
argininosuccinate lyase 0.593 0.731 8.6E-10
CUI: C2931384
Disease: Moyamoya disease 1
Moyamoya disease 1
disease 0.040 None 1.000 4 0 2017 2019
Entrez Id: 4314
Gene Symbol: MMP3
MMP3
matrix metallopeptidase 3 0.408 0.885 5.7E-15
CUI: C2931384
Disease: Moyamoya disease 1
Moyamoya disease 1
disease 0.030 None 0.667 3 1 2010 2015
Entrez Id: 4318
Gene Symbol: MMP9
MMP9
matrix metallopeptidase 9 0.305 0.923 1.9E-17
CUI: C2931384
Disease: Moyamoya disease 1
Moyamoya disease 1
disease 0.030 None 1.000 3 1 2014 2018
Entrez Id: 60
Gene Symbol: ACTB
ACTB
actin beta 0.325 0.923 0.99
CUI: C2931384
Disease: Moyamoya disease 1
Moyamoya disease 1
disease 0.030 None 1.000 3 0 2011 2017
Entrez Id: 7077
Gene Symbol: TIMP2
TIMP2
TIMP metallopeptidase inhibitor 2 0.425 0.846 0.79
CUI: C2931384
Disease: Moyamoya disease 1
Moyamoya disease 1
disease 0.030 None 1.000 3 0 2006 2014
Entrez Id: 857
Gene Symbol: CAV1
CAV1
caveolin 1 0.388 0.885 8.3E-03
CUI: C2931384
Disease: Moyamoya disease 1
Moyamoya disease 1
disease 0.030 None 1.000 3 0 2016 2019
Entrez Id: 285
Gene Symbol: ANGPT2
ANGPT2
angiopoietin 2 0.410 0.846 0.83
CUI: C2931384
Disease: Moyamoya disease 1
Moyamoya disease 1
disease 0.020 None 1.000 2 0 2017 2019
Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
major histocompatibility complex, class II, DR beta 1 0.333 0.923 1.1E-03
CUI: C2931384
Disease: Moyamoya disease 1
Moyamoya disease 1
disease 0.020 None 1.000 2 0 2012 2019
Entrez Id: 2982
Gene Symbol: GUCY1A1
GUCY1A1
guanylate cyclase 1 soluble subunit alpha 1 0.686 0.577 3.1E-08
CUI: C2931384
Disease: Moyamoya disease 1
Moyamoya disease 1
disease 0.120 None 1.000 2 3 2016 2017
Entrez Id: 348
Gene Symbol: APOE
APOE
apolipoprotein E 0.338 0.962 1.9E-03
CUI: C2931384
Disease: Moyamoya disease 1
Moyamoya disease 1
disease 0.020 None 0.500 2 0 2016 2017
Entrez Id: 836
Gene Symbol: CASP3
CASP3
caspase 3 0.351 0.923 0.10
CUI: C2931384
Disease: Moyamoya disease 1
Moyamoya disease 1
disease 0.020 None 1.000 2 0 2006 2018
Entrez Id: 3791
Gene Symbol: KDR
KDR
kinase insert domain receptor 0.378 0.885 1.00
CUI: C2931384
Disease: Moyamoya disease 1
Moyamoya disease 1
disease 0.020 None 1.000 2 0 2012 2016
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C2931384
Disease: Moyamoya disease 1
Moyamoya disease 1
disease 0.110 None 1.000 2 3 2014 2018
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
platelet derived growth factor receptor beta 0.416 0.846 0.90
CUI: C2931384
Disease: Moyamoya disease 1
Moyamoya disease 1
disease 0.020 None 0.500 2 1 2010 2013
Entrez Id: 79184
Gene Symbol: BRCC3
BRCC3
BRCA1/BRCA2-containing complex subunit 3 0.686 0.500 6.4E-03
CUI: C2931384
Disease: Moyamoya disease 1
Moyamoya disease 1
disease 0.020 None 1.000 2 0 2014 2017
Entrez Id: 3586
Gene Symbol: IL10
IL10
interleukin 10 0.281 0.923 5.9E-03
CUI: C2931384
Disease: Moyamoya disease 1
Moyamoya disease 1
disease 0.020 None 1.000 2 0 2006 2019
Entrez Id: 2006
Gene Symbol: ELN
ELN
elastin 0.415 0.885 2.1E-14
CUI: C2931384
Disease: Moyamoya disease 1
Moyamoya disease 1
disease 0.020 None 1.000 2 0 1997 2016
Entrez Id: 8854
Gene Symbol: ALDH1A2
ALDH1A2
aldehyde dehydrogenase 1 family member A2 0.578 0.692 0.36
CUI: C2931384
Disease: Moyamoya disease 1
Moyamoya disease 1
disease 0.020 None 1.000 2 0 2015 2019