Source: ALL

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: 353
Gene Symbol: APRT
APRT 		adenine phosphoribosyltransferase 0.423 0.846 5.5E-13
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		disease 0.010 None 1.000 1 0 1983 1983
Entrez Id: 4236
Gene Symbol: MFAP1
MFAP1 		microfibril associated protein 1 0.431 0.846 0.80
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		disease 0.010 None 1.000 1 0 1983 1983
Entrez Id: 1719
Gene Symbol: DHFR
DHFR 		dihydrofolate reductase 0.513 0.808 3.4E-02
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		disease 0.010 None 1.000 1 0 2000 2000
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		disease 0.010 None 1.000 1 0 2000 2000
Entrez Id: 22807
Gene Symbol: IKZF2
IKZF2 		IKAROS family zinc finger 2 0.656 0.500 0.99
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		disease 0.010 None 1.000 1 0 2002 2002
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: 3920
Gene Symbol: LAMP2
LAMP2 		lysosomal associated membrane protein 2 0.552 0.731 0.27
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		disease 0.010 None 1.000 1 0 2005 2005
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: 2074
Gene Symbol: ERCC6
ERCC6 		ERCC excision repair 6, chromatin remodeling factor 0.507 0.808 5.2E-22
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		disease 0.010 None 1.000 1 0 2006 2006
Entrez Id: 4879
Gene Symbol: NPPB
NPPB 		natriuretic peptide B 0.513 0.808 9.9E-06
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		disease 0.010 None 1.000 1 0 2006 2006
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: 411
Gene Symbol: ARSB
ARSB 		arylsulfatase B 0.595 0.692 7.0E-09
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		disease 0.010 None 1.000 1 0 2007 2007
Entrez Id: 2202
Gene Symbol: EFEMP1
EFEMP1 		EGF containing fibulin extracellular matrix protein 1 0.540 0.769 1.00
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		disease 0.010 None 1.000 1 1 2007 2007
Entrez Id: 2660
Gene Symbol: MSTN
MSTN 		myostatin 0.528 0.731 0.51
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		disease 0.010 None 1.000 1 0 2007 2007
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: 3080
Gene Symbol: CFHR2
CFHR2 		complement factor H related 2 0.769 0.346 1.5E-08
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: 59338
Gene Symbol: PLEKHA1
PLEKHA1 		pleckstrin homology domain containing A1 0.769 0.269 2.3E-04
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: 4133
Gene Symbol: MAP2
MAP2 		microtubule associated protein 2 0.537 0.692 1.00
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: 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: 10877
Gene Symbol: CFHR4
CFHR4 		complement factor H related 4 0.839 0.346 2.4E-18
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: 10159
Gene Symbol: ATP6AP2
ATP6AP2 		ATPase H+ transporting accessory protein 2 0.525 0.769 0.87
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		disease 0.010 None 1.000 1 0 2009 2009
Entrez Id: 2523
Gene Symbol: FUT1
FUT1 		fucosyltransferase 1 (H blood group) 0.541 0.692 5.5E-04
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		disease 0.010 None 1.000 1 0 2009 2009
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: 4311
Gene Symbol: MME
MME 		membrane metalloendopeptidase 0.407 0.808 1.5E-18
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		disease 0.010 None 1.000 1 0 2010 2010
Entrez Id: 1356
Gene Symbol: CP
CP 		ceruloplasmin 0.466 0.846 4.2E-10
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		disease 0.010 None 1.000 1 0 2010 2010