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: 2321
Gene Symbol: FLT1
FLT1
fms related receptor tyrosine kinase 1 0.419 0.846 1.00
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 0.030 None 1.000 3 0 2010 2016
Entrez Id: 3482
Gene Symbol: IGF2R
IGF2R
insulin like growth factor 2 receptor 0.518 0.731 1.00
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 0.030 None 1.000 3 0 2012 2019
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
C-X3-C motif chemokine receptor 1 0.457 0.885 6.1E-02
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 0.030 None 1.000 3 1 2010 2018
Entrez Id: 6499
Gene Symbol: SKIV2L
SKIV2L
Ski2 like RNA helicase 0.615 0.654 1.3E-22
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 0.030 None 1.000 3 2 2013 2016
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
nuclear factor, erythroid 2 like 2 0.357 0.885 3.6E-03
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 0.020 None 1.000 2 0 2017 2018
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
superoxide dismutase 1 0.379 0.962 0.18
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 0.020 None 1.000 2 0 2010 2018
Entrez Id: 6648
Gene Symbol: SOD2
SOD2
superoxide dismutase 2 0.379 0.923 0.15
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 0.020 None 0.500 2 1 2009 2010
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
alpha-L-iduronidase 0.499 0.846 3.8E-13
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 0.020 None 1.000 2 0 2019 2019
Entrez Id: 3479
Gene Symbol: IGF1
IGF1
insulin like growth factor 1 0.318 0.885 0.27
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 0.020 None 1.000 2 0 2003 2018
Entrez Id: 4125
Gene Symbol: MAN2B1
MAN2B1
mannosidase alpha class 2B member 1 0.674 0.462 4.8E-22
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 0.020 None 1.000 2 0 2010 2016
Entrez Id: 5444
Gene Symbol: PON1
PON1
paraoxonase 1 0.409 0.885 9.8E-11
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 0.020 None 1.000 2 1 2012 2013
Entrez Id: 3586
Gene Symbol: IL10
IL10
interleukin 10 0.281 0.923 5.9E-03
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 0.020 None 1.000 2 0 2018 2019
Entrez Id: 3569
Gene Symbol: IL6
IL6
interleukin 6 0.248 0.962 0.32
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 0.020 None 1.000 2 0 2016 2018
Entrez Id: 2717
Gene Symbol: GLA
GLA
galactosidase alpha 0.537 0.769 1.00
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 0.020 None 1.000 2 0 2015 2018
Entrez Id: 6785
Gene Symbol: ELOVL4
ELOVL4
ELOVL fatty acid elongase 4 0.601 0.577 0.83
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 0.020 None 1.000 2 0 2001 2007
Entrez Id: 83872
Gene Symbol: HMCN1
HMCN1
hemicentin 1 0.736 0.577 3.6E-38
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 0.020 None 0.500 2 0 2005 2006
Entrez Id: 7098
Gene Symbol: TLR3
TLR3
toll like receptor 3 0.427 0.885 1.6E-07
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 0.020 None 0.500 2 0 2014 2020
Entrez Id: 7942
Gene Symbol: TFEB
TFEB
transcription factor EB 0.527 0.731 0.90
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 0.020 None 1.000 2 0 2017 2017
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
serpin family G member 1 0.507 0.769 0.96
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 0.020 None 1.000 2 1 2012 2015
Entrez Id: 7124
Gene Symbol: TNF
TNF
tumor necrosis factor 0.231 0.962 0.80
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 0.020 None 0.500 2 0 2011 2017
Entrez Id: 17
Gene Symbol: AAVS1
AAVS1
adeno-associated virus integration site 1 0.595 0.731
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 0.020 None 1.000 2 0 2018 2019
Entrez Id: 1636
Gene Symbol: ACE
ACE
angiotensin I converting enzyme 0.328 0.923 1.0E-37
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 0.020 None 1.000 2 0 2010 2018
Entrez Id: 9723
Gene Symbol: SEMA3E
SEMA3E
semaphorin 3E 0.515 0.769 8.7E-09
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 54579
Gene Symbol: UGT1A5
UGT1A5
UDP glucuronosyltransferase family 1 member A5 0.656 0.462 9.4E-09
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 8322
Gene Symbol: FZD4
FZD4
frizzled class receptor 4 0.490 0.923 0.97
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 0.010 None 1.000 1 0 2011 2011