Disease table
Disease phenotype | OMIM | Gene symbol (chromosome) protein |
| Galloway-Mowat syndrome 1 (13.65) | 251300 | WDR73 (15q24-q26) WD Repeat-Containing Protein 73       |
| Giant axonal neuropathy 2 (14.133) | 610100 | DCAF8 (1q23.2) DDB1 and CUL4 associated factor 8 |
| Giant axonal neuropathy-1 (14.132) | 256850 | GAN1 (16q23.2) 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, 10.102, ) | 232300 | GAA (17q25.2-q25.3) Acid alpha-glucosidase preproprotein |
| Glycogen storage disease IIb (5.18) | 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 |