Source: GENOMICS_ENGLAND

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: 5256
Gene Symbol: PHKA2
PHKA2
phosphorylase kinase regulatory subunit alpha 2 0.678 0.462 0.38
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease
group 0.600 strong 1.000 1 0 1992 2017
Entrez Id: 5261
Gene Symbol: PHKG2
PHKG2
phosphorylase kinase catalytic subunit gamma 2 0.674 0.538 3.9E-03
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease
group 0.570 strong 1.000 1 0 1996 2018
Entrez Id: 2992
Gene Symbol: GYG1
GYG1
glycogenin 1 0.722 0.308 4.8E-12
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease
group 0.550 limited 1.000 0 0 2010 2017
Entrez Id: 2538
Gene Symbol: G6PC
G6PC
glucose-6-phosphatase catalytic subunit 0.560 0.692 1.8E-05
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease
group 0.500 strong 1.000 1 0 1982 2019
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4
solute carrier family 37 member 4 0.617 0.654 1.7E-05
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease
group 0.500 strong 0.955 1 0 1982 2020
Entrez Id: 2548
Gene Symbol: GAA
GAA
glucosidase alpha, acid 0.631 0.577 2.8E-18
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease
group 0.460 limited 1.000 0 0 1986 2018
Entrez Id: 2998
Gene Symbol: GYS2
GYS2
glycogen synthase 2 0.686 0.462 9.8E-22
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease
group 0.440 strong 1.000 1 0 1998 2018
Entrez Id: 178
Gene Symbol: AGL
AGL
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 0.644 0.615 2.8E-27
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease
group 0.430 None 1.000 1 0 1996 2016
Entrez Id: 5213
Gene Symbol: PFKM
PFKM
phosphofructokinase, muscle 0.666 0.500 3.8E-18
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease
group 0.400 limited 1.000 0 0 1994 1997
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease
group 0.360 None 1.000 1 0 1999 2016
Entrez Id: 5236
Gene Symbol: PGM1
PGM1
phosphoglucomutase 1 0.628 0.577 5.1E-15
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease
group 0.330 strong 1.000 2 0 2013 2018
Entrez Id: 5837
Gene Symbol: PYGM
PYGM
glycogen phosphorylase, muscle associated 0.650 0.577 2.0E-13
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease
group 0.330 limited 1.000 0 0 2003 2011
Entrez Id: 3920
Gene Symbol: LAMP2
LAMP2
lysosomal associated membrane protein 2 0.552 0.731 0.27
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease
group 0.310 limited 1.000 0 0 2005 2005
Entrez Id: 5224
Gene Symbol: PGAM2
PGAM2
phosphoglycerate mutase 2 0.792 0.308 1.4E-07
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease
group 0.310 limited 1.000 0 0 1999 1999
Entrez Id: 226
Gene Symbol: ALDOA
ALDOA
aldolase, fructose-bisphosphate A 0.631 0.615 1.3E-03
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease
group 0.300 strong 1.000 3 0 1981 2016
Entrez Id: 3939
Gene Symbol: LDHA
LDHA
lactate dehydrogenase A 0.507 0.808 6.9E-02
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease
group 0.300 strong 1.000 2 0 1984 2016
Entrez Id: 8908
Gene Symbol: GYG2
GYG2
glycogenin 2 1.000 0.115 7.1E-10
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease
group 0.300 limited 1.000 1 0 2015 2015
Entrez Id: 5836
Gene Symbol: PYGL
PYGL
glycogen phosphorylase L 0.705 0.423 1.7E-17
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease
group 0.300 strong 1.000 1 0 2016 2016
Entrez Id: 2203
Gene Symbol: FBP1
FBP1
fructose-bisphosphatase 1 0.575 0.692 7.9E-02
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease
group 0.300 strong 1.000 1 0 2016 2016
Entrez Id: 5257
Gene Symbol: PHKB
PHKB
phosphorylase kinase regulatory subunit beta 0.769 0.269 1.6E-21
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease
group 0.300 strong 1.000 1 0 2016 2016
Entrez Id: 2997
Gene Symbol: GYS1
GYS1
glycogen synthase 1 0.722 0.385 2.9E-04
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease
group 0.300 limited 0 0
Entrez Id: 378884
Gene Symbol: NHLRC1
NHLRC1
NHL repeat containing E3 ubiquitin protein ligase 1 0.656 0.423 9.4E-02
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease
group 0.300 limited 0 0
Entrez Id: 5230
Gene Symbol: PGK1
PGK1
phosphoglycerate kinase 1 0.542 0.769 0.77
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease
group 0.300 limited 0 0
Entrez Id: 2027
Gene Symbol: ENO3
ENO3
enolase 3 0.769 0.308 1.6E-19
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease
group 0.300 limited 0 0
Entrez Id: 7957
Gene Symbol: EPM2A
EPM2A
EPM2A glucan phosphatase, laforin 0.608 0.577 8.7E-06
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease
group 0.300 limited 0 0