Disease ID | Disease name | Source of annotation with GAA | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
232300 | GLYCOGEN STORAGE DISEASE II | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | GAA |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Metabolic pathways | hsa01100 | 2.49 |
Lysosome | hsa04142 | 5.78 |
Galactose metabolism | hsa00052 | 7.72 |
Starch and sucrose metabolism | hsa00500 | 6.91 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Glucose metabolism | R-HSA-70326 | 6.77 |
Lysosomal glycogen catabolism | R-HSA-5357572 | 11.4 |
Metabolism | R-HSA-1430728 | 2.34 |
Metabolism of carbohydrates | R-HSA-71387 | 4.93 |
Glycogen breakdown (glycogenolysis) | R-HSA-70221 | 9.08 |
GO term | GO ID | GO IC |
---|---|---|
maltose alpha-glucosidase activity | GO:0032450 | 8.64 |
glucosidase activity | GO:0015926 | 7.1 |
hydrolase activity | GO:0016787 | 1.9 |
carbohydrate binding | GO:0030246 | 4.17 |
hydrolase activity, acting on glycosyl bonds | GO:0016798 | 4.91 |
alpha-glucosidase activity | GO:0090599 | 7.95 |
catalytic activity | GO:0003824 | 1.05 |
binding | GO:0005488 | 0.18 |
oligo-1,6-glucosidase activity | GO:0004574 | 9.05 |
hydrolase activity, hydrolyzing O-glycosyl compounds | GO:0004553 | 5.14 |
alpha-1,4-glucosidase activity | GO:0004558 | 8.35 |