| MONDO:0001071 | 
                      MONDO:0001071
                      Disease Name:  intellectual disability 
                      
                      
                        Orphanet id: Orphanet:319658
                      
                      All associated enzymes in DAR: 
                      
                        CYP2U1 
                      
                        DHX16 
                      
                        CBS 
                      
                        POLG 
                      
                        UFSP2 
                      
                        P4HTM 
                      
                        PDIA3 
                      
                        DHX30 
                      
                        TET3 
                      
                        ALG3 
                      
                        NAGLU 
                      
                        CHD3 
                      
                        SMPD1 
                      
                        DHX34 
                      
                        GCH1 
                      
                        CARNMT1 
                      
                        CYP27A1 
                      
                        ABCD1 
                      
                        CHD2 
                      
                        DDX54 
                      
                        INO80 
                      
                        PTPN4 
                      
                        DHX37 
                      
                      
                      
                   
                  
                  PDIA3 | P30101 | 5.3.4.1 | R-HSA-983170 
 
                          R-HSA-901042R-HSA-983170Reactome Name: Antigen Presentation: Folding, assembly and peptide loading of class I MHC 
                          See in Reactome R-HSA-1236974
 | R-HSA-168256 R-HSA-1236975
 
 
                          R-HSA-392499R-HSA-1236975Reactome Name: Antigen processing-Cross presentation 
                          See in Reactome R-HSA-446203
 
 
                          R-HSA-983169R-HSA-446203Reactome Name: Asparagine N-linked glycosylation 
                          See in Reactome 
 
                          R-HSA-532668R-HSA-983169Reactome Name: Class I MHC mediated antigen processing & presentation 
                          See in Reactome 
 
                          R-HSA-597592R-HSA-532668Reactome Name: N-glycan trimming in the ER and Calnexin/Calreticulin cycle 
                          See in Reactome 
 
                          R-HSA-1280218R-HSA-597592Reactome Name: Post-translational protein modification 
                          See in Reactome | Immune System Metabolism of proteins
 | R-HSA-1236971
                             (
                               
                                 R-HSA-1236974
                               
                              ) 
 
                          R-HSA-548890
                             (
                               
                                 R-HSA-901042
                               
                              )R-HSA-1236971Reaction Name: Peptide loading on MHC class I in phagosome 
                          See in Reactome 
 
                          R-HSA-8863973
                             (
                               
                                 R-HSA-1236974
                               
                              )R-HSA-548890Reaction Name: Removal of the third glucose by glucosidase II and release from the chaperone 
                          See in Reactome R-HSA-8951499
                             (
                               
                                 R-HSA-983170
                               
                              )
 
 
                          R-HSA-901047
                             (
                               
                                 R-HSA-901042
                               
                              )R-HSA-8951499Reaction Name: Loading of antigenic peptides on to class I MHC 
                          See in Reactome R-HSA-983142
                             (
                               
                                 R-HSA-983170
                               
                              )
 
 
                          R-HSA-983146
                             (
                               
                                 R-HSA-983170
                               
                              )R-HSA-983142Reaction Name: Formation of peptide loading complex (PLC) 
                          See in Reactome 
 
                          R-HSA-983148
                             (
                               
                                 R-HSA-983170
                               
                              )R-HSA-983146Reaction Name: Interaction of beta-2-microglobulin (B2M) chain with  class I HC 
                          See in Reactome 
 
                          R-HSA-983161
                             (
                               
                                 R-HSA-983170
                               
                              )R-HSA-983148Reaction Name: Interaction of Erp57 with MHC class I HC 
                          See in Reactome 
                          R-HSA-983161Reaction Name: Dissociation of the Antigenic peptide:MHC:B2M peptide loading complex 
                          See in Reactome | 
                
                
                  | MONDO:0007204 | P4HB | P07237 | 5.3.4.1 | R-HSA-381426 
 
                          R-HSA-9020591R-HSA-381426Reactome Name: Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) 
                          See in Reactome R-HSA-8963888
 R-HSA-8964041
 R-HSA-5358346
 R-HSA-9020933
 R-HSA-1650814
 
 
                          R-HSA-3299685R-HSA-1650814Reactome Name: Collagen biosynthesis and modifying enzymes 
                          See in Reactome 
 
                          R-HSA-8866423R-HSA-3299685Reactome Name: Detoxification of Reactive Oxygen Species 
                          See in Reactome R-HSA-8957275
 
                          R-HSA-8957275Reactome Name: Post-translational protein phosphorylation 
                          See in Reactome | R-HSA-8963899 R-HSA-174824
 
 
                          R-HSA-449147R-HSA-174824Reactome Name: Plasma lipoprotein assembly, remodeling, and clearance 
                          See in Reactome R-HSA-447115
 
 
                          R-HSA-8953897R-HSA-447115Reactome Name: Interleukin-12 family signaling 
                          See in Reactome R-HSA-168256
 R-HSA-2262752
 R-HSA-382551
 R-HSA-1280215
 
 
                          R-HSA-1474290R-HSA-1280215Reactome Name: Cytokine Signaling in Immune system 
                          See in Reactome R-HSA-1474244
 
 
                          R-HSA-8963898R-HSA-1474244Reactome Name: Extracellular matrix organization 
                          See in Reactome R-HSA-392499
 R-HSA-5358351
 R-HSA-597592
 
 
                          R-HSA-162582R-HSA-597592Reactome Name: Post-translational protein modification 
                          See in Reactome R-HSA-9711123
 
                          R-HSA-9711123Reactome Name: Cellular response to chemical stress 
                          See in Reactome | Cellular responses to stimuli Immune System
 Transport of small molecules
 Extracellular matrix organization
 Metabolism of proteins
 Signal Transduction
 | R-HSA-1650808
                             (
                               
                                 R-HSA-1650814
                               
                              ) 
 
                          R-HSA-174741
                             (
                               
                                 R-HSA-8963888
                               
                              )R-HSA-1650808Reaction Name: Prolyl 4-hydroxylase converts collagen prolines to 4-hydroxyprolines 
                          See in Reactome 
 
                          R-HSA-174786
                             (
                               
                                 R-HSA-8963888
                               
                              )R-HSA-174741Reaction Name: ApoB-48:TG:PL complex + 100 triacylglycerols + ApoA-I + ApoA-IV => nascent chylomicron 
                          See in Reactome 
 
                          R-HSA-2002460
                             (
                               
                                 R-HSA-1650814
                               
                              )R-HSA-174786Reaction Name: ApoB-48 + 40 triacylglycerol + 60 phospholipid => ApoB-48:TG:PL complex 
                          See in Reactome R-HSA-3341296
                             (
                               
                                 R-HSA-3299685
                               
                              )
 
 
                          R-HSA-5358336
                             (
                               
                                 R-HSA-5358346
                               
                              )R-HSA-3341296Reaction Name: GPX7,8 catalyze peroxidation of P4HB (PDI) 
                          See in Reactome 
 
                          R-HSA-5358340
                             (
                               
                                 R-HSA-5358346
                               
                              )R-HSA-5358336Reaction Name: P4HB forms mixed disulphides with Hh precursors 
                          See in Reactome 
 
                          R-HSA-8866329
                             (
                               
                                 R-HSA-8866423
                               
                              )R-HSA-5358340Reaction Name: Autoproteolytic cleavage of Hh precursors 
                          See in Reactome 
 
                          R-HSA-8948234
                             (
                               
                                 R-HSA-1650814
                               
                              )R-HSA-8866329Reaction Name: MTTP lipidates APOB-100, forming a pre-VLDL 
                          See in Reactome 
 
                          R-HSA-8950113
                             (
                               
                                 R-HSA-9020591
                               
                              )R-HSA-8948234Reaction Name: P4HB:4-Hyp collagen propeptides dissociates 
                          See in Reactome R-HSA-8950183
                             (
                               
                                 R-HSA-9020933
                               
                              )
 R-HSA-8950456
                             (
                               
                                 R-HSA-9020591
                               
                              )
 R-HSA-8952289
                             (
                               
                                 R-HSA-381426;
                               
                              
                               
                                 R-HSA-8957275
                               
                              )
 
 
                          R-HSA-9737780
                             (
                               
                                 R-HSA-8964041
                               
                              )R-HSA-8952289Reaction Name: FAM20C phosphorylates FAM20C substrates 
                          See in Reactome | 
                
                
                  | MONDO:0008146 | P4HB | P07237 | 5.3.4.1 | R-HSA-381426 
 
                          R-HSA-9020591R-HSA-381426Reactome Name: Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) 
                          See in Reactome R-HSA-8963888
 R-HSA-8964041
 R-HSA-5358346
 R-HSA-9020933
 R-HSA-1650814
 
 
                          R-HSA-3299685R-HSA-1650814Reactome Name: Collagen biosynthesis and modifying enzymes 
                          See in Reactome 
 
                          R-HSA-8866423R-HSA-3299685Reactome Name: Detoxification of Reactive Oxygen Species 
                          See in Reactome R-HSA-8957275
 
                          R-HSA-8957275Reactome Name: Post-translational protein phosphorylation 
                          See in Reactome | R-HSA-8963899 R-HSA-174824
 
 
                          R-HSA-449147R-HSA-174824Reactome Name: Plasma lipoprotein assembly, remodeling, and clearance 
                          See in Reactome R-HSA-447115
 
 
                          R-HSA-8953897R-HSA-447115Reactome Name: Interleukin-12 family signaling 
                          See in Reactome R-HSA-168256
 R-HSA-2262752
 R-HSA-382551
 R-HSA-1280215
 
 
                          R-HSA-1474290R-HSA-1280215Reactome Name: Cytokine Signaling in Immune system 
                          See in Reactome R-HSA-1474244
 
 
                          R-HSA-8963898R-HSA-1474244Reactome Name: Extracellular matrix organization 
                          See in Reactome R-HSA-392499
 R-HSA-5358351
 R-HSA-597592
 
 
                          R-HSA-162582R-HSA-597592Reactome Name: Post-translational protein modification 
                          See in Reactome R-HSA-9711123
 
                          R-HSA-9711123Reactome Name: Cellular response to chemical stress 
                          See in Reactome | Cellular responses to stimuli Immune System
 Transport of small molecules
 Extracellular matrix organization
 Metabolism of proteins
 Signal Transduction
 | R-HSA-1650808
                             (
                               
                                 R-HSA-1650814
                               
                              ) 
 
                          R-HSA-174741
                             (
                               
                                 R-HSA-8963888
                               
                              )R-HSA-1650808Reaction Name: Prolyl 4-hydroxylase converts collagen prolines to 4-hydroxyprolines 
                          See in Reactome 
 
                          R-HSA-174786
                             (
                               
                                 R-HSA-8963888
                               
                              )R-HSA-174741Reaction Name: ApoB-48:TG:PL complex + 100 triacylglycerols + ApoA-I + ApoA-IV => nascent chylomicron 
                          See in Reactome 
 
                          R-HSA-2002460
                             (
                               
                                 R-HSA-1650814
                               
                              )R-HSA-174786Reaction Name: ApoB-48 + 40 triacylglycerol + 60 phospholipid => ApoB-48:TG:PL complex 
                          See in Reactome R-HSA-3341296
                             (
                               
                                 R-HSA-3299685
                               
                              )
 
 
                          R-HSA-5358336
                             (
                               
                                 R-HSA-5358346
                               
                              )R-HSA-3341296Reaction Name: GPX7,8 catalyze peroxidation of P4HB (PDI) 
                          See in Reactome 
 
                          R-HSA-5358340
                             (
                               
                                 R-HSA-5358346
                               
                              )R-HSA-5358336Reaction Name: P4HB forms mixed disulphides with Hh precursors 
                          See in Reactome 
 
                          R-HSA-8866329
                             (
                               
                                 R-HSA-8866423
                               
                              )R-HSA-5358340Reaction Name: Autoproteolytic cleavage of Hh precursors 
                          See in Reactome 
 
                          R-HSA-8948234
                             (
                               
                                 R-HSA-1650814
                               
                              )R-HSA-8866329Reaction Name: MTTP lipidates APOB-100, forming a pre-VLDL 
                          See in Reactome 
 
                          R-HSA-8950113
                             (
                               
                                 R-HSA-9020591
                               
                              )R-HSA-8948234Reaction Name: P4HB:4-Hyp collagen propeptides dissociates 
                          See in Reactome R-HSA-8950183
                             (
                               
                                 R-HSA-9020933
                               
                              )
 R-HSA-8950456
                             (
                               
                                 R-HSA-9020591
                               
                              )
 R-HSA-8952289
                             (
                               
                                 R-HSA-381426;
                               
                              
                               
                                 R-HSA-8957275
                               
                              )
 
 
                          R-HSA-9737780
                             (
                               
                                 R-HSA-8964041
                               
                              )R-HSA-8952289Reaction Name: FAM20C phosphorylates FAM20C substrates 
                          See in Reactome | 
                
                
                  | MONDO:0011650 | CRELD1 | Q96HD1 | 5.3.4.1 |  |  |  |  | 
                
                
                  | MONDO:0015275 | CRELD1 | Q96HD1 | 5.3.4.1 |  |  |  |  |