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: 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: 11081
Gene Symbol: KERA
KERA 		keratocan 0.678 0.231 1.7E-07
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		disease 0.010 None < 0.001 1 0 2018 2018
Entrez Id: 23539
Gene Symbol: SLC16A8
SLC16A8 		solute carrier family 16 member 8 0.760 0.231 9.0E-03
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: 10425
Gene Symbol: ARIH2
ARIH2 		ariadne RBR E3 ubiquitin protein ligase 2 0.792 0.269 0.99
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		disease 0.010 None 1.000 1 0 2020 2020
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: 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: 2992
Gene Symbol: GYG1
GYG1 		glycogenin 1 0.722 0.308 4.8E-12
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: 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: 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: 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: 114902
Gene Symbol: C1QTNF5
C1QTNF5 		C1q and TNF related 5 0.663 0.346 0.84
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		disease 0.010 None 1.000 1 1 2018 2018
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: 63943
Gene Symbol: FKBPL
FKBPL 		FKBP prolyl isomerase like 0.736 0.346 8.0E-11
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		disease 0.010 None 1.000 1 1 2016 2016
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: 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: 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: 64428
Gene Symbol: CIAO3
CIAO3 		cytosolic iron-sulfur assembly component 3 0.700 0.462 1.9E-09
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: 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: 5961
Gene Symbol: PRPH2
PRPH2 		peripherin 2 0.551 0.500 0.12
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: 7936
Gene Symbol: NELFE
NELFE 		negative elongation factor complex member E 0.686 0.500 6.9E-03
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		disease 0.010 None 1.000 1 1 2013 2013
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: 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: 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: 1295
Gene Symbol: COL8A1
COL8A1 		collagen type VIII alpha 1 chain 0.678 0.538 0.41
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: 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