DAR - Bologna Biocomputing Group

Search summary (Disease ID: MONDO:0008779)

Number of enzymes:	4
Number of disease:	1
Number of reactomes:	7
Number of reactions:	8

Search results (Disease ID: MONDO:0008779)

DiseaseID	Gene	UniProt	EC numbers	Reactomes	Expanded Reactomes	Reactome roots	Reactions
MONDO:0008779	GBE1	Q04446	2.4.1.18	R-HSA-3322077 R-HSA-3322077 Reactome Name: Glycogen synthesis See in Reactome	R-HSA-8982491 R-HSA-8982491 Reactome Name: Glycogen metabolism See in Reactome R-HSA-1430728 R-HSA-1430728 Reactome Name: Metabolism See in Reactome R-HSA-71387 R-HSA-71387 Reactome Name: Metabolism of carbohydrates See in Reactome	Metabolism	R-HSA-3322005 ( R-HSA-3322077 ) R-HSA-3322005 Reaction Name: GBE1 catalyzes branch formation in polyGlc-GYG1 complexed with GYS1-a See in Reactome R-HSA-3322016 ( R-HSA-3322077 ) R-HSA-3322016 Reaction Name: GBE1 catalyzes branch formation in polyGlc-GYG2 complexed with GYS2-a See in Reactome R-HSA-3322057 ( R-HSA-3322077 ) R-HSA-3322057 Reaction Name: GBE1 catalyzes branch formation in polyGlc-GYG1 complexed with GYS1-b See in Reactome
MONDO:0008779	EARS2	Q5JPH6	6.1.1.17	R-HSA-379726 R-HSA-379726 Reactome Name: Mitochondrial tRNA aminoacylation See in Reactome	R-HSA-392499 R-HSA-392499 Reactome Name: Metabolism of proteins See in Reactome R-HSA-379724 R-HSA-379724 Reactome Name: tRNA Aminoacylation See in Reactome R-HSA-72766 R-HSA-72766 Reactome Name: Translation See in Reactome	Metabolism of proteins	R-HSA-380216 ( R-HSA-379726 ) R-HSA-380216 Reaction Name: glutamate + tRNA(Glu) + ATP => Glu-tRNA(Glu) + AMP + pyrophosphate See in Reactome
MONDO:0008779	ASAH1	Q13510	3.5.1.23 3.5.1.-	R-HSA-6798695 R-HSA-6798695 Reactome Name: Neutrophil degranulation See in Reactome R-HSA-1660662 R-HSA-1660662 Reactome Name: Glycosphingolipid metabolism See in Reactome	R-HSA-556833 R-HSA-556833 Reactome Name: Metabolism of lipids See in Reactome R-HSA-168249 R-HSA-168249 Reactome Name: Innate Immune System See in Reactome R-HSA-1430728 R-HSA-1430728 Reactome Name: Metabolism See in Reactome R-HSA-168256 R-HSA-168256 Reactome Name: Immune System See in Reactome R-HSA-428157 R-HSA-428157 Reactome Name: Sphingolipid metabolism See in Reactome	Metabolism Immune System	R-HSA-1606602 ( R-HSA-1660662 ) R-HSA-1606602 Reaction Name: Acid ceramidase hydrolyses ceramide into sphingosine and free fatty acid (lysosome) See in Reactome R-HSA-6798745 ( R-HSA-6798695 ) R-HSA-6798745 Reaction Name: Exocytosis of tertiary granule lumen proteins See in Reactome R-HSA-6800434 ( R-HSA-6798695 ) R-HSA-6800434 Reaction Name: Exocytosis of ficolin-rich granule lumen proteins See in Reactome
MONDO:0008779	ATP2B3	Q16720	7.2.2.10	R-HSA-418359 R-HSA-418359 Reactome Name: Reduction of cytosolic Ca++ levels See in Reactome R-HSA-5578775 R-HSA-5578775 Reactome Name: Ion homeostasis See in Reactome R-HSA-936837 R-HSA-936837 Reactome Name: Ion transport by P-type ATPases See in Reactome	R-HSA-5576891 R-HSA-5576891 Reactome Name: Cardiac conduction See in Reactome R-HSA-397014 R-HSA-397014 Reactome Name: Muscle contraction See in Reactome R-HSA-983712 R-HSA-983712 Reactome Name: Ion channel transport See in Reactome R-HSA-382551 R-HSA-382551 Reactome Name: Transport of small molecules See in Reactome R-HSA-418360 R-HSA-418360 Reactome Name: Platelet calcium homeostasis See in Reactome R-HSA-418346 R-HSA-418346 Reactome Name: Platelet homeostasis See in Reactome R-HSA-109582 R-HSA-109582 Reactome Name: Hemostasis See in Reactome	Muscle contraction Transport of small molecules Hemostasis	R-HSA-418309 ( R-HSA-418359; R-HSA-5578775; R-HSA-936837 ) R-HSA-418309 Reaction Name: ATP2B1-4 transport cytosolic Ca2+ to extracellular region See in Reactome