Gene table of GAA : glucosidase alpha, acid

Gene-disease associations table

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

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

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

Associated REACTOME pathways

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

Associated GO terms for Molecular function

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