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: 2632
Gene Symbol: GBE1
GBE1 		1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		disease 1.000 None 1.000 50 20 1996 2017
Entrez Id: 10616
Gene Symbol: RBCK1
RBCK1 		RANBP2-type and C3HC4-type zinc finger containing 1 0.736 0.462 0.13
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		disease 0.130 None 1.000 3 1 2012 2015
Entrez Id: 55072
Gene Symbol: RNF31
RNF31 		ring finger protein 31 0.736 0.346 1.00
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 3768
Gene Symbol: KCNJ12
KCNJ12 		potassium inwardly rectifying channel subfamily J member 12 0.839 0.192 5.4E-02
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		disease 0.010 None 1.000 1 0 2002 2002
Entrez Id: 3763
Gene Symbol: KCNJ6
KCNJ6 		potassium inwardly rectifying channel subfamily J member 6 0.615 0.692 0.54
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		disease 0.010 None 1.000 1 0 2002 2002
Entrez Id: 3760
Gene Symbol: KCNJ3
KCNJ3 		potassium inwardly rectifying channel subfamily J member 3 0.653 0.500 0.99
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		disease 0.010 None 1.000 1 0 2002 2002
Entrez Id: 2548
Gene Symbol: GAA
GAA 		glucosidase alpha, acid 0.631 0.577 2.8E-18
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		disease 0.010 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: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		disease 0.010 None 1.000 1 0 2000 2000
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		collagen type I alpha 2 chain 0.486 0.846 1.00
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 57556
Gene Symbol: SEMA6A
SEMA6A 		semaphorin 6A 0.486 0.808 1.00
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		disease 0.010 None 1.000 1 0 2018 2018