DAR - Bologna Biocomputing Group

Search summary (Disease ID: MONDO:0018278)

Number of enzymes:	5
Number of disease:	1
Number of reactomes:	2
Number of reactions:	4

Search results (Disease ID: MONDO:0018278)

DiseaseID	Gene	UniProt	EC numbers	Reactomes	Expanded Reactomes	Reactome roots	Reactions
MONDO:0018278	POMT1	Q9Y6A1	2.4.1.109	R-HSA-5173105 R-HSA-5173105 Reactome Name: O-linked glycosylation See in Reactome	R-HSA-597592 R-HSA-597592 Reactome Name: Post-translational protein modification See in Reactome R-HSA-392499 R-HSA-392499 Reactome Name: Metabolism of proteins See in Reactome	Metabolism of proteins	R-HSA-5615637 ( R-HSA-5173105 ) R-HSA-5615637 Reaction Name: POMT1:POMT2 transfers Man from Dol-P-Man to DAG1(30-653) See in Reactome
MONDO:0018278	POMT2	Q9UKY4	2.4.1.109	R-HSA-5173105 R-HSA-5173105 Reactome Name: O-linked glycosylation See in Reactome	R-HSA-597592 R-HSA-597592 Reactome Name: Post-translational protein modification See in Reactome R-HSA-392499 R-HSA-392499 Reactome Name: Metabolism of proteins See in Reactome	Metabolism of proteins	R-HSA-5615637 ( R-HSA-5173105 ) R-HSA-5615637 Reaction Name: POMT1:POMT2 transfers Man from Dol-P-Man to DAG1(30-653) See in Reactome
MONDO:0018278	FKRP	Q9H9S5	2.7.8.-
MONDO:0018278	GMPPB	Q9Y5P6	2.7.7.13	R-HSA-446205 R-HSA-446205 Reactome Name: Synthesis of GDP-mannose See in Reactome	R-HSA-446203 R-HSA-446203 Reactome Name: Asparagine N-linked glycosylation See in Reactome R-HSA-446219 R-HSA-446219 Reactome Name: Synthesis of substrates in N-glycan biosythesis See in Reactome R-HSA-446193 R-HSA-446193 Reactome Name: Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein See in Reactome R-HSA-392499 R-HSA-392499 Reactome Name: Metabolism of proteins See in Reactome R-HSA-597592 R-HSA-597592 Reactome Name: Post-translational protein modification See in Reactome	Metabolism of proteins	R-HSA-446221 ( R-HSA-446205 ) R-HSA-446221 Reaction Name: Mannose-1-phosphate converted to GDP-Mannose See in Reactome
MONDO:0018278	LARGE1	O95461	2.4.1.- 2.4.2.- 2.4.-.-	R-HSA-5173105 R-HSA-5173105 Reactome Name: O-linked glycosylation See in Reactome	R-HSA-597592 R-HSA-597592 Reactome Name: Post-translational protein modification See in Reactome R-HSA-392499 R-HSA-392499 Reactome Name: Metabolism of proteins See in Reactome	Metabolism of proteins	R-HSA-9638090 ( R-HSA-5173105 ) R-HSA-9638090 Reaction Name: B4GAT1:LARGE transfers Xyl from UDP-Xyl to GlcA-Xyl-GlcA See in Reactome R-HSA-9638097 ( R-HSA-5173105 ) R-HSA-9638097 Reaction Name: B4GAT1:LARGE transfers GlcA from UDP-GlcA to Xyl-GlcA See in Reactome