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: 263
Gene Symbol: AMD1P2
AMD1P2
adenosylmethionine decarboxylase 1 pseudogene 2 0.608 0.538
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 0.080 None 1.000 8 0 1976 2019
Entrez Id: 262
Gene Symbol: AMD1
AMD1
adenosylmethionine decarboxylase 1 0.593 0.577 0.98
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 0.080 None 1.000 8 0 1976 2019
Entrez Id: 5362
Gene Symbol: PLXNA2
PLXNA2
plexin A2 0.447 0.808 1.1E-06
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 0.060 None 1.000 6 0 2017 2019
Entrez Id: 348
Gene Symbol: APOE
APOE
apolipoprotein E 0.338 0.962 1.9E-03
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 0.060 None 1.000 6 0 2004 2019
Entrez Id: 729230
Gene Symbol: CCR2
CCR2
C-C motif chemokine receptor 2 0.418 0.846 2.3E-02
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 0.040 None 1.000 4 0 2010 2018
Entrez Id: 6347
Gene Symbol: CCL2
CCL2
C-C motif chemokine ligand 2 0.321 0.962 0.61
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 0.040 None 1.000 4 0 2010 2018
Entrez Id: 1401
Gene Symbol: CRP
CRP
C-reactive protein 0.299 0.962 3.7E-03
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 0.040 None 0.750 4 0 2008 2019
Entrez Id: 5228
Gene Symbol: PGF
PGF
placental growth factor 0.460 0.846 0.13
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 0.040 None 1.000 4 0 2018 2019
Entrez Id: 51422
Gene Symbol: PRKAG2
PRKAG2
protein kinase AMP-activated non-catalytic subunit gamma 2 0.582 0.654 1.00
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 0.030 None 1.000 3 0 2005 2017
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: 1999
Gene Symbol: ELF3
ELF3
E74 like ETS transcription factor 3 0.551 0.808 0.98
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 0.030 None 1.000 3 0 2018 2020
Entrez Id: 2538
Gene Symbol: G6PC
G6PC
glucose-6-phosphatase catalytic subunit 0.560 0.692 1.8E-05
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 0.030 None 1.000 3 0 1983 2019
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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