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: 2548
Gene Symbol: GAA
GAA
glucosidase alpha, acid 0.631 0.577 2.8E-18
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 1.000 definitive 0.994 319 201 1965 2019
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
troponin T2, cardiac type 0.601 0.423 2.0E-03
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 0.300 None 1.000 1 0 2016 2016
Entrez Id: 6476
Gene Symbol: SI
SI
sucrase-isomaltase 0.569 0.692 3.9E-60
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 0.100 None 0.994 163 1 1976 2019
Entrez Id: 8972
Gene Symbol: MGAM
MGAM
maltase-glucoamylase 0.592 0.615 1.0E-35
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 0.100 None 0.994 163 3 1976 2019
Entrez Id: 3075
Gene Symbol: CFH
CFH
complement factor H 0.441 0.885 0.86
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 0.100 None 0.950 60 5 2006 2019
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
vascular endothelial growth factor A 0.266 0.923 2.4E-05
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 0.100 None 0.941 51 5 2008 2019
Entrez Id: 387715
Gene Symbol: ARMS2
ARMS2
age-related maculopathy susceptibility 2 0.670 0.308 5.2E-04
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 0.100 None 1.000 28 2 2008 2018
Entrez Id: 5654
Gene Symbol: HTRA1
HTRA1
HtrA serine peptidase 1 0.532 0.692 4.9E-04
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 0.100 None 0.964 28 3 2007 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: 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: 3791
Gene Symbol: KDR
KDR
kinase insert domain receptor 0.378 0.885 1.00
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 0.070 None 0.714 7 3 2009 2018
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: 6120
Gene Symbol: RPE
RPE
ribulose-5-phosphate-3-epimerase 0.575 0.538 2.5E-04
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 0.040 None 1.000 4 2 2009 2018
Entrez Id: 629
Gene Symbol: CFB
CFB
complement factor B 0.532 0.769 4.7E-16
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 0.040 None 1.000 4 3 2008 2013
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: 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: 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: 5176
Gene Symbol: SERPINF1
SERPINF1
serpin family F member 1 0.460 0.846 7.8E-08
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 0.040 None 1.000 4 1 2001 2017
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: 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: 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: 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: 2006
Gene Symbol: ELN
ELN
elastin 0.415 0.885 2.1E-14
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 0.030 None 1.000 3 1 2008 2011
Entrez Id: 718
Gene Symbol: C3
C3
complement C3 0.445 0.885 0.90
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 0.030 None 1.000 3 7 2010 2014