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-983170
Reactome Name: Antigen Presentation: Folding, assembly and peptide loading of class I MHC
See in Reactome
R-HSA-901042
R-HSA-1236974
|
R-HSA-168256
R-HSA-1236975
R-HSA-1236975
Reactome Name: Antigen processing-Cross presentation
See in Reactome
R-HSA-392499
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
|
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-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-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:0007204 |
P4HB |
P07237 |
5.3.4.1
|
R-HSA-381426
R-HSA-381426
Reactome Name: Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
See in Reactome
R-HSA-9020591
R-HSA-8963888
R-HSA-8964041
R-HSA-5358346
R-HSA-9020933
R-HSA-1650814
R-HSA-1650814
Reactome Name: Collagen biosynthesis and modifying enzymes
See in Reactome
R-HSA-3299685
R-HSA-3299685
Reactome Name: Detoxification of Reactive Oxygen Species
See in Reactome
R-HSA-8866423
R-HSA-8957275
R-HSA-8957275
Reactome Name: Post-translational protein phosphorylation
See in Reactome
|
R-HSA-8963899
R-HSA-174824
R-HSA-174824
Reactome Name: Plasma lipoprotein assembly, remodeling, and clearance
See in Reactome
R-HSA-449147
R-HSA-447115
R-HSA-447115
Reactome Name: Interleukin-12 family signaling
See in Reactome
R-HSA-8953897
R-HSA-168256
R-HSA-2262752
R-HSA-382551
R-HSA-1280215
R-HSA-1280215
Reactome Name: Cytokine Signaling in Immune system
See in Reactome
R-HSA-1474290
R-HSA-1474244
R-HSA-1474244
Reactome Name: Extracellular matrix organization
See in Reactome
R-HSA-8963898
R-HSA-392499
R-HSA-5358351
R-HSA-597592
R-HSA-597592
Reactome Name: Post-translational protein modification
See in Reactome
R-HSA-162582
R-HSA-9711123
R-HSA-9711123
Reactome 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-1650808
Reaction Name: Prolyl 4-hydroxylase converts collagen prolines to 4-hydroxyprolines
See in Reactome
R-HSA-174741
(
R-HSA-8963888
)
R-HSA-174741
Reaction Name: ApoB-48:TG:PL complex + 100 triacylglycerols + ApoA-I + ApoA-IV => nascent chylomicron
See in Reactome
R-HSA-174786
(
R-HSA-8963888
)
R-HSA-174786
Reaction Name: ApoB-48 + 40 triacylglycerol + 60 phospholipid => ApoB-48:TG:PL complex
See in Reactome
R-HSA-2002460
(
R-HSA-1650814
)
R-HSA-3341296
(
R-HSA-3299685
)
R-HSA-3341296
Reaction Name: GPX7,8 catalyze peroxidation of P4HB (PDI)
See in Reactome
R-HSA-5358336
(
R-HSA-5358346
)
R-HSA-5358336
Reaction Name: P4HB forms mixed disulphides with Hh precursors
See in Reactome
R-HSA-5358340
(
R-HSA-5358346
)
R-HSA-5358340
Reaction Name: Autoproteolytic cleavage of Hh precursors
See in Reactome
R-HSA-8866329
(
R-HSA-8866423
)
R-HSA-8866329
Reaction Name: MTTP lipidates APOB-100, forming a pre-VLDL
See in Reactome
R-HSA-8948234
(
R-HSA-1650814
)
R-HSA-8948234
Reaction Name: P4HB:4-Hyp collagen propeptides dissociates
See in Reactome
R-HSA-8950113
(
R-HSA-9020591
)
R-HSA-8950183
(
R-HSA-9020933
)
R-HSA-8950456
(
R-HSA-9020591
)
R-HSA-8952289
(
R-HSA-381426;
R-HSA-8957275
)
R-HSA-8952289
Reaction Name: FAM20C phosphorylates FAM20C substrates
See in Reactome
R-HSA-9737780
(
R-HSA-8964041
)
|
MONDO:0008146 |
P4HB |
P07237 |
5.3.4.1
|
R-HSA-381426
R-HSA-381426
Reactome Name: Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
See in Reactome
R-HSA-9020591
R-HSA-8963888
R-HSA-8964041
R-HSA-5358346
R-HSA-9020933
R-HSA-1650814
R-HSA-1650814
Reactome Name: Collagen biosynthesis and modifying enzymes
See in Reactome
R-HSA-3299685
R-HSA-3299685
Reactome Name: Detoxification of Reactive Oxygen Species
See in Reactome
R-HSA-8866423
R-HSA-8957275
R-HSA-8957275
Reactome Name: Post-translational protein phosphorylation
See in Reactome
|
R-HSA-8963899
R-HSA-174824
R-HSA-174824
Reactome Name: Plasma lipoprotein assembly, remodeling, and clearance
See in Reactome
R-HSA-449147
R-HSA-447115
R-HSA-447115
Reactome Name: Interleukin-12 family signaling
See in Reactome
R-HSA-8953897
R-HSA-168256
R-HSA-2262752
R-HSA-382551
R-HSA-1280215
R-HSA-1280215
Reactome Name: Cytokine Signaling in Immune system
See in Reactome
R-HSA-1474290
R-HSA-1474244
R-HSA-1474244
Reactome Name: Extracellular matrix organization
See in Reactome
R-HSA-8963898
R-HSA-392499
R-HSA-5358351
R-HSA-597592
R-HSA-597592
Reactome Name: Post-translational protein modification
See in Reactome
R-HSA-162582
R-HSA-9711123
R-HSA-9711123
Reactome 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-1650808
Reaction Name: Prolyl 4-hydroxylase converts collagen prolines to 4-hydroxyprolines
See in Reactome
R-HSA-174741
(
R-HSA-8963888
)
R-HSA-174741
Reaction Name: ApoB-48:TG:PL complex + 100 triacylglycerols + ApoA-I + ApoA-IV => nascent chylomicron
See in Reactome
R-HSA-174786
(
R-HSA-8963888
)
R-HSA-174786
Reaction Name: ApoB-48 + 40 triacylglycerol + 60 phospholipid => ApoB-48:TG:PL complex
See in Reactome
R-HSA-2002460
(
R-HSA-1650814
)
R-HSA-3341296
(
R-HSA-3299685
)
R-HSA-3341296
Reaction Name: GPX7,8 catalyze peroxidation of P4HB (PDI)
See in Reactome
R-HSA-5358336
(
R-HSA-5358346
)
R-HSA-5358336
Reaction Name: P4HB forms mixed disulphides with Hh precursors
See in Reactome
R-HSA-5358340
(
R-HSA-5358346
)
R-HSA-5358340
Reaction Name: Autoproteolytic cleavage of Hh precursors
See in Reactome
R-HSA-8866329
(
R-HSA-8866423
)
R-HSA-8866329
Reaction Name: MTTP lipidates APOB-100, forming a pre-VLDL
See in Reactome
R-HSA-8948234
(
R-HSA-1650814
)
R-HSA-8948234
Reaction Name: P4HB:4-Hyp collagen propeptides dissociates
See in Reactome
R-HSA-8950113
(
R-HSA-9020591
)
R-HSA-8950183
(
R-HSA-9020933
)
R-HSA-8950456
(
R-HSA-9020591
)
R-HSA-8952289
(
R-HSA-381426;
R-HSA-8957275
)
R-HSA-8952289
Reaction Name: FAM20C phosphorylates FAM20C substrates
See in Reactome
R-HSA-9737780
(
R-HSA-8964041
)
|
MONDO:0011650 |
CRELD1 |
Q96HD1 |
5.3.4.1
|
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MONDO:0015275 |
CRELD1 |
Q96HD1 |
5.3.4.1
|
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