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: 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: 100124696
Gene Symbol: TEC
TEC
transient erythroblastopenia of childhood 0.659 0.577
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: 100128998
Gene Symbol: C20orf181
C20orf181
chromosome 20 open reading frame 181 0.479 0.885
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 100505887
Gene Symbol: LINC01672
LINC01672
long intergenic non-protein coding RNA 1672 0.462 0.846
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 0.010 None 1.000 1 0 2003 2003
Entrez Id: 2357
Gene Symbol: FPR1
FPR1
formyl peptide receptor 1 0.576 0.769
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 0.010 None 1.000 1 3 2014 2014
Entrez Id: 27259
Gene Symbol: HPLH1
HPLH1
hemophagocytic lymphohistiocytosis 1 0.695 0.538
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: 4540
Gene Symbol: ND5
ND5
NADH dehydrogenase, subunit 5 (complex I) 0.531 0.769
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 4658
Gene Symbol: MYP2
MYP2
myopia 2 (high grade, autosomal dominant) 0.659 0.308
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 7361
Gene Symbol: UGT1A
UGT1A
UDP glucuronosyltransferase family 1 member A complex locus 0.540 0.654
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: 89
Gene Symbol: ACTN3
ACTN3
actinin alpha 3 (gene/pseudogene) 0.663 0.500
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 8987
Gene Symbol: STBD1
STBD1
starch binding domain 1 0.890 0.115
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 0.010 None < 0.001 1 0 2013 2013
Entrez Id: 4018
Gene Symbol: LPA
LPA
lipoprotein(a) 0.444 0.769 6.6E-89
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: 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: 259266
Gene Symbol: ASPM
ASPM
abnormal spindle microtubule assembly 0.526 0.769 3.4E-49
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 0.010 None 1.000 1 0 2008 2008
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: 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: 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: 80724
Gene Symbol: ACAD10
ACAD10
acyl-CoA dehydrogenase family member 10 0.760 0.308 1.0E-30
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 0.010 None 1.000 1 1 2019 2019
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
ryanodine receptor 1 0.489 0.808 1.6E-29
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 178
Gene Symbol: AGL
AGL
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 0.644 0.615 2.8E-27
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 0.010 None 1.000 1 1 2008 2008
Entrez Id: 7450
Gene Symbol: VWF
VWF
von Willebrand factor 0.408 0.885 3.2E-25
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 1071
Gene Symbol: CETP
CETP
cholesteryl ester transfer protein 0.512 0.731 1.2E-23
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
disease 0.010 None 1.000 1 0 2014 2014
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: 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