Disease table



Disease phenotype
OMIM
Gene symbol (chromosome)
protein
Giant axonal neuropathy 2 (14.102)
610100
DCAF8 (1q23.2)
DDB1 and CUL4 associated factor 8



Giant axonal neuropathy-1 (14.101)
256850
GAN (16q24.1)
Gigaxonin



Glycogen branching enzyme deficiency (9.3)
232500
GBE1 (3p12)
Glucan (1,4-alpha-), branching enzyme 1 (glycogen branching enzyme, Andersen disease, glycogen storage disease type IV)



Glycogen storage disease II (9.1, 10.82, 1.42)
232300
GAA (17q25.2-q25.3)
Acid alpha-glucosidase preproprotein



Glycogen storage disease IIb (5.12)
300257
LAMP2 (Xq24)
Lysosomal-associated membrane protein 2 precursor



glycogen storage disease of heart, lethal congenital (10.5, 9.10)
261740
PRKAG2 (7q31)
Protein kinase, AMP-activated, gamma 2 non-catalytic subunit



glycogen storage disease type 0 (9.9)
611556
GYS1 (19q13.3)
Glycogen synthase 3 glycogen synthase 1 (muscle) glycogen synthase 1 (muscle)



Glycogen storage disease type IIIa (9.2)
232400
AGL (1p21)
Amylo-1,6-glucosidase, 4-alpha-glucanotransferase



Glycogen storage disease type IIIb (9.2)
232400
AGL (1p21)
Amylo-1,6-glucosidase, 4-alpha-glucanotransferase



Glycogen storage disease type IIIc (9.2)
232400
AGL (1p21)
Amylo-1,6-glucosidase, 4-alpha-glucanotransferase



Glycogen storage disease type IIId (9.2)
232400
AGL (1p21)
Amylo-1,6-glucosidase, 4-alpha-glucanotransferase



Glycogen storage disease VII (9.5)
232800
PFKM (12q13.3)
Phosphofructokinase, muscle



Glycogen storage disease X (9.14)
261670
PGAM2 (7p13-p12)
Phosphoglycerate mutase 2 (muscle)



Glycogen storage disease XI (9.15)
612933
LDHA (11p15.4)
Lactate dehydrogenase A



Glycogen storage disease XIII (9.16)
612932
ENO3 (17pter-p11)
Enolase 3, beta muscle specific



Glycogen storage disease XIV (9.7)
612934
PGM1 (1p31)
Phosphoglucomutase 1



Glycogen storage disease XV (9.8, 9.12)
613507
GYG1 (3q24)
Glycogenin 1



glycogen storage disease, type IXD (9.6)
300569
PHKA1 (Xq13)
Phosphorylase b kinase, alpha submit



GOLGA2-related congenital muscle dystrophy with brain involvement (2.47)
GOLGA2 (9q34.113)
golgin A2