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: 178
Gene Symbol: AGL
AGL 		amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 0.644 0.615 2.8E-27
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III 		disease 1.000 None 0.988 82 125 1987 2020
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III 		disease 0.310 None 1.000 1 0 2000 2000
Entrez Id: 2538
Gene Symbol: G6PC
G6PC 		glucose-6-phosphatase catalytic subunit 0.560 0.692 1.8E-05
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III 		disease 0.040 None 1.000 4 0 1983 2007
Entrez Id: 116448
Gene Symbol: OLIG1
OLIG1 		oligodendrocyte transcription factor 1 0.722 0.423 0.66
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III 		disease 0.010 None 1.000 1 0 2009 2009
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2 		collagen type VI alpha 2 chain 0.599 0.692 6.5E-08
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III 		disease 0.010 None 1.000 1 0 2011 2011
Entrez Id: 2998
Gene Symbol: GYS2
GYS2 		glycogen synthase 2 0.686 0.462 9.8E-22
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III 		disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 5836
Gene Symbol: PYGL
PYGL 		glycogen phosphorylase L 0.705 0.423 1.7E-17
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III 		disease 0.010 None 1.000 1 0 2007 2007
Entrez Id: 8567
Gene Symbol: MADD
MADD 		MAP kinase activating death domain 0.644 0.538 1.5E-14
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III 		disease 0.010 None 1.000 1 0 2015 2015