DAR - Bologna Biocomputing Group

Search summary (Disease ID: MONDO:0001071)

Number of enzymes:	23
Number of disease:	1
Number of reactomes:	36
Number of reactions:	69

Search results (Disease ID: MONDO:0001071)

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DiseaseID	Gene	UniProt	EC numbers	Reactomes	Expanded Reactomes	Reactome roots	Reactions
MONDO:0001071	CYP2U1	Q7Z449	1.14.14.80	R-HSA-2142816 R-HSA-2142816 Reactome Name: Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE) See in Reactome R-HSA-211958 R-HSA-211958 Reactome Name: Miscellaneous substrates See in Reactome	R-HSA-211897 R-HSA-211897 Reactome Name: Cytochrome P450 - arranged by substrate type See in Reactome R-HSA-211859 R-HSA-211859 Reactome Name: Biological oxidations See in Reactome R-HSA-211945 R-HSA-211945 Reactome Name: Phase I - Functionalization of compounds See in Reactome R-HSA-1430728 R-HSA-1430728 Reactome Name: Metabolism See in Reactome R-HSA-8978868 R-HSA-8978868 Reactome Name: Fatty acid metabolism See in Reactome R-HSA-2142753 R-HSA-2142753 Reactome Name: Arachidonic acid metabolism See in Reactome R-HSA-556833 R-HSA-556833 Reactome Name: Metabolism of lipids See in Reactome	Metabolism	R-HSA-211960 ( R-HSA-211958 ) R-HSA-211960 Reaction Name: CYP2U1 19-hydroxylates ARA See in Reactome R-HSA-2161814 ( R-HSA-2142816 ) R-HSA-2161814 Reaction Name: Arachidonic acid is hydroxylated to 19-HETE by CYP(2) See in Reactome R-HSA-2161940 ( R-HSA-2142816 ) R-HSA-2161940 Reaction Name: Arachidonic acid is hydroxylated to 20-HETE by CYP(3) See in Reactome
MONDO:0001071	DHX16	O60231	3.6.4.13	R-HSA-72163 R-HSA-72163 Reactome Name: mRNA Splicing - Major Pathway See in Reactome	R-HSA-8953854 R-HSA-8953854 Reactome Name: Metabolism of RNA See in Reactome R-HSA-72203 R-HSA-72203 Reactome Name: Processing of Capped Intron-Containing Pre-mRNA See in Reactome R-HSA-72172 R-HSA-72172 Reactome Name: mRNA Splicing See in Reactome	Metabolism of RNA	R-HSA-156661 ( R-HSA-72163 ) R-HSA-156661 Reaction Name: Formation of Exon Junction Complex See in Reactome R-HSA-72130 ( R-HSA-72163 ) R-HSA-72130 Reaction Name: Formation of an intermediate Spliceosomal C complex See in Reactome R-HSA-72139 ( R-HSA-72163 ) R-HSA-72139 Reaction Name: Formation of the active Spliceosomal C complex See in Reactome R-HSA-72143 ( R-HSA-72163 ) R-HSA-72143 Reaction Name: Lariat Formation and 5'-Splice Site Cleavage See in Reactome R-HSA-72160 ( R-HSA-72163 ) R-HSA-72160 Reaction Name: Cleavage at the 3'-Splice Site and Exon Ligation See in Reactome
MONDO:0001071	CBS	P35520	4.2.1.22	R-HSA-1614603 R-HSA-1614603 Reactome Name: Cysteine formation from homocysteine See in Reactome R-HSA-2408508 R-HSA-2408508 Reactome Name: Metabolism of ingested SeMet, Sec, MeSec into H2Se See in Reactome	R-HSA-2408522 R-HSA-2408522 Reactome Name: Selenoamino acid metabolism See in Reactome R-HSA-71291 R-HSA-71291 Reactome Name: Metabolism of amino acids and derivatives See in Reactome R-HSA-1614635 R-HSA-1614635 Reactome Name: Sulfur amino acid metabolism See in Reactome R-HSA-1430728 R-HSA-1430728 Reactome Name: Metabolism See in Reactome	Metabolism	R-HSA-1614524 ( R-HSA-1614603 ) R-HSA-1614524 Reaction Name: PXLP-CBS tetramers condenses HCYS and L-Ser to form L-Cystathionine See in Reactome R-HSA-2408559 ( R-HSA-2408508 ) R-HSA-2408559 Reaction Name: SeHCys and Ser are dehydrated into SeCysta by CBS See in Reactome
MONDO:0001071	POLG	P54098	2.7.7.7
MONDO:0001071	UFSP2	Q9NUQ7	3.4.22.-
MONDO:0001071	P4HTM	Q9NXG6	1.14.11.29
MONDO:0001071	PDIA3	P30101	5.3.4.1	R-HSA-983170 R-HSA-983170 Reactome Name: Antigen Presentation: Folding, assembly and peptide loading of class I MHC See in Reactome R-HSA-901042 R-HSA-901042 Reactome Name: Calnexin/calreticulin cycle See in Reactome R-HSA-1236974 R-HSA-1236974 Reactome Name: ER-Phagosome pathway See in Reactome	R-HSA-168256 R-HSA-168256 Reactome Name: Immune System See in Reactome R-HSA-1236975 R-HSA-1236975 Reactome Name: Antigen processing-Cross presentation See in Reactome R-HSA-392499 R-HSA-392499 Reactome Name: Metabolism of proteins See in Reactome R-HSA-446203 R-HSA-446203 Reactome Name: Asparagine N-linked glycosylation See in Reactome R-HSA-983169 R-HSA-983169 Reactome Name: Class I MHC mediated antigen processing & presentation See in Reactome R-HSA-532668 R-HSA-532668 Reactome Name: N-glycan trimming in the ER and Calnexin/Calreticulin cycle See in Reactome R-HSA-597592 R-HSA-597592 Reactome Name: Post-translational protein modification See in Reactome R-HSA-1280218 R-HSA-1280218 Reactome Name: Adaptive Immune System See in Reactome	Immune System Metabolism of proteins	R-HSA-1236971 ( R-HSA-1236974 ) R-HSA-1236971 Reaction Name: Peptide loading on MHC class I in phagosome See in Reactome R-HSA-548890 ( R-HSA-901042 ) R-HSA-548890 Reaction Name: Removal of the third glucose by glucosidase II and release from the chaperone See in Reactome R-HSA-8863973 ( R-HSA-1236974 ) R-HSA-8863973 Reaction Name: Fusion of ERC and phagosome See in Reactome R-HSA-8951499 ( R-HSA-983170 ) R-HSA-8951499 Reaction Name: Loading of antigenic peptides on to class I MHC See in Reactome R-HSA-901047 ( R-HSA-901042 ) R-HSA-901047 Reaction Name: Binding of ERp57 See in Reactome R-HSA-983142 ( R-HSA-983170 ) R-HSA-983142 Reaction Name: Formation of peptide loading complex (PLC) See in Reactome R-HSA-983146 ( R-HSA-983170 ) R-HSA-983146 Reaction Name: Interaction of beta-2-microglobulin (B2M) chain with class I HC See in Reactome R-HSA-983148 ( R-HSA-983170 ) R-HSA-983148 Reaction Name: Interaction of Erp57 with MHC class I HC See in Reactome R-HSA-983161 ( R-HSA-983170 ) R-HSA-983161 Reaction Name: Dissociation of the Antigenic peptide:MHC:B2M peptide loading complex See in Reactome
MONDO:0001071	DHX30	Q7L2E3	3.6.4.13
MONDO:0001071	TET3	O43151	1.14.11.n2	R-HSA-5221030 R-HSA-5221030 Reactome Name: TET1,2,3 and TDG demethylate DNA See in Reactome	R-HSA-212165 R-HSA-212165 Reactome Name: Epigenetic regulation of gene expression See in Reactome R-HSA-74160 R-HSA-74160 Reactome Name: Gene expression (Transcription) See in Reactome	Gene expression (Transcription)	R-HSA-5220952 ( R-HSA-5221030 ) R-HSA-5220952 Reaction Name: TET1,2,3 oxidizes 5-formylcytosine to 5-carboxylcytosine See in Reactome R-HSA-5220990 ( R-HSA-5221030 ) R-HSA-5220990 Reaction Name: TET1,2,3 oxidizes 5-hydroxymethylcytosine to 5-formylcytosine See in Reactome R-HSA-5221014 ( R-HSA-5221030 ) R-HSA-5221014 Reaction Name: TET1,2,3 oxidizes 5-methylcytosine to 5-hydroxymethylcytosine See in Reactome
MONDO:0001071	ALG3	Q92685	2.4.1.258	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-446203 R-HSA-446203 Reactome Name: Asparagine N-linked glycosylation 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-446188 ( R-HSA-446193 ) R-HSA-446188 Reaction Name: ALG3 transfers Man to N-glycan precursor (GlcNAc)2 (Man)5 (PP-Dol)1 See in Reactome

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