Source: GENOMICS_ENGLAND

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: 59
Gene Symbol: ACTA2
ACTA2
actin alpha 2, smooth muscle 0.508 0.846 0.93
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease
disease 0.600 strong 1.000 0 0 2009 2018
Entrez Id: 79184
Gene Symbol: BRCC3
BRCC3
BRCA1/BRCA2-containing complex subunit 3 0.686 0.500 6.4E-03
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease
disease 0.340 limited 1.000 1 0 2011 2017
Entrez Id: 2006
Gene Symbol: ELN
ELN
elastin 0.415 0.885 2.1E-14
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease
disease 0.320 limited 1.000 1 0 1993 2016
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: C0026654
Disease: Moyamoya Disease
Moyamoya Disease
disease 0.320 limited 1.000 1 0 2011 2019
Entrez Id: 3119
Gene Symbol: HLA-DQB1
HLA-DQB1
major histocompatibility complex, class II, DQ beta 1 0.407 0.885 8.9E-03
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease
disease 0.310 limited 1.000 1 0 1997 2019
Entrez Id: 182
Gene Symbol: JAG1
JAG1
jagged canonical Notch ligand 1 0.429 0.808 1.00
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease
disease 0.300 limited 1.000 1 0 2012 2012
Entrez Id: 5116
Gene Symbol: PCNT
PCNT
pericentrin 0.564 0.808 4.0E-58
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease
disease 0.300 moderate 1.000 1 0 2004 2004
Entrez Id: 4763
Gene Symbol: NF1
NF1
neurofibromin 1 0.440 0.885 0.90
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease
disease 0.300 moderate 1.000 1 0 2000 2000
Entrez Id: 3106
Gene Symbol: HLA-B
HLA-B
major histocompatibility complex, class I, B 0.379 0.885 3.9E-05
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease
disease 0.300 limited 1.000 1 0 2003 2003
Entrez Id: 25939
Gene Symbol: SAMHD1
SAMHD1
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 0.547 0.769 6.5E-13
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease
disease 0.300 strong 1.000 1 0 2010 2010
Entrez Id: 81031
Gene Symbol: SLC2A10
SLC2A10
solute carrier family 2 member 10 0.550 0.615 1.6E-08
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease
disease 0.300 strong 1.000 1 0 2006 2006
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
ATP binding cassette subfamily C member 6 0.540 0.654 5.6E-35
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease
disease 0.300 limited 0 0
Entrez Id: 50960
Gene Symbol: MYMY1
MYMY1
moyamoya disease 1 1.000 0.077
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease
disease 0.300 None 0 0
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease
disease 0.300 limited 0 0
Entrez Id: 5654
Gene Symbol: HTRA1
HTRA1
HtrA serine peptidase 1 0.532 0.692 4.9E-04
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease
disease 0.300 limited 0 0
Entrez Id: 2717
Gene Symbol: GLA
GLA
galactosidase alpha 0.537 0.769 1.00
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease
disease 0.300 limited 0 0