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
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-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
|
MONDO:0001149 |
MONDO:0001149
Disease Name: microcephaly
OMIM id: OMIM:612703
All associated enzymes in DAR:
DHCR7
UFSP2
PLA2G6
SLC2A1
RAG1
ALG13
DHX34
ATRX
ALG13 |
Q9NP73 |
2.4.1.141
3.4.19.12
|
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-597592
R-HSA-597592
Reactome Name: Post-translational protein modification
See in Reactome
|
Metabolism of proteins
|
R-HSA-446207
(
R-HSA-446193
)
R-HSA-446207
Reaction Name: ALG13:ALG14 transfers GlcNAc from UDP-GlcNAc to GlcNAcDOLP
See in Reactome
|
MONDO:0004691 |
ALG9 |
Q9H6U8 |
2.4.1.259
2.4.1.261
|
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-597592
R-HSA-597592
Reactome Name: Post-translational protein modification
See in Reactome
|
Metabolism of proteins
|
R-HSA-446215
(
R-HSA-446193
)
R-HSA-446215
Reaction Name: ALG9 transfers Man to N-glycan precursor (GlcNAc)2 (Man)6 (PP-Dol)1
See in Reactome
R-HSA-446216
(
R-HSA-446193
)
R-HSA-446216
Reaction Name: ALG9 transfers Man to N-glycan precursor (GlcNAc)2 (Man)8 (PP-Dol)1
See in Reactome
|
MONDO:0009890 |
ALG9 |
Q9H6U8 |
2.4.1.259
2.4.1.261
|
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-597592
R-HSA-597592
Reactome Name: Post-translational protein modification
See in Reactome
|
Metabolism of proteins
|
R-HSA-446215
(
R-HSA-446193
)
R-HSA-446215
Reaction Name: ALG9 transfers Man to N-glycan precursor (GlcNAc)2 (Man)6 (PP-Dol)1
See in Reactome
R-HSA-446216
(
R-HSA-446193
)
R-HSA-446216
Reaction Name: ALG9 transfers Man to N-glycan precursor (GlcNAc)2 (Man)8 (PP-Dol)1
See in Reactome
|
MONDO:0010472 |
ALG13 |
Q9NP73 |
2.4.1.141
3.4.19.12
|
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-597592
R-HSA-597592
Reactome Name: Post-translational protein modification
See in Reactome
|
Metabolism of proteins
|
R-HSA-446207
(
R-HSA-446193
)
R-HSA-446207
Reaction Name: ALG13:ALG14 transfers GlcNAc from UDP-GlcNAc to GlcNAcDOLP
See in Reactome
|
MONDO:0010998 |
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-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
|
MONDO:0011291 |
ALG6 |
Q9Y672 |
2.4.1.267
|
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-597592
R-HSA-597592
Reactome Name: Post-translational protein modification
See in Reactome
|
Metabolism of proteins
|
R-HSA-446202
(
R-HSA-446193
)
R-HSA-446202
Reaction Name: Addition of the first glucose to the N-glycan precursor by ALG6
See in Reactome
|
MONDO:0011783 |
ALG12 |
Q9BV10 |
2.4.1.260
|
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-597592
R-HSA-597592
Reactome Name: Post-translational protein modification
See in Reactome
|
Metabolism of proteins
|
R-HSA-446198
(
R-HSA-446193
)
R-HSA-446198
Reaction Name: ALG12 transfers Man to N-glycan precursor (GlcNAc)2 (Man)7 (PP-Dol)1
See in Reactome
|
MONDO:0011933 |
ALG2 |
Q9H553 |
2.4.1.132
2.4.1.257
|
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-597592
R-HSA-597592
Reactome Name: Post-translational protein modification
See in Reactome
|
Metabolism of proteins
|
R-HSA-446208
(
R-HSA-446193
)
R-HSA-446208
Reaction Name: Addition of a second mannose to the N-glycan precursor by ALG2
See in Reactome
R-HSA-449718
(
R-HSA-446193
)
R-HSA-449718
Reaction Name: Addition of a third mannose to the N-glycan precursor by ALG2
See in Reactome
|
MONDO:0011964 |
DPAGT1 |
Q9H3H5 |
2.7.8.15
|
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-597592
R-HSA-597592
Reactome Name: Post-translational protein modification
See in Reactome
|
Metabolism of proteins
|
R-HSA-446191
(
R-HSA-446193
)
R-HSA-446191
Reaction Name: Addition of N-acetyl-D-glucosamine to Dolichyl phosphate
See in Reactome
|
MONDO:0011969 |
ALG8 |
Q9BVK2 |
2.4.1.265
|
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-597592
R-HSA-597592
Reactome Name: Post-translational protein modification
See in Reactome
|
Metabolism of proteins
|
R-HSA-446189
(
R-HSA-446193
)
R-HSA-446189
Reaction Name: Addition of a second glucose to the N-glycan precursor by ALG8
See in Reactome
|
MONDO:0012052 |
ALG1 |
Q9BT22 |
2.4.1.142
|
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-597592
R-HSA-597592
Reactome Name: Post-translational protein modification
See in Reactome
|
Metabolism of proteins
|
R-HSA-446218
(
R-HSA-446193
)
R-HSA-446218
Reaction Name: Addition of the first mannose to the N-glycan precursor by ALG1
See in Reactome
|
MONDO:0013349 |
ALG11 |
Q2TAA5 |
2.4.1.131
|
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-597592
R-HSA-597592
Reactome Name: Post-translational protein modification
See in Reactome
|
Metabolism of proteins
|
R-HSA-446187
(
R-HSA-446193
)
R-HSA-446187
Reaction Name: ALG11 transfers the fourth and fifth Man to the N-glycan precursor
See in Reactome
|
MONDO:0013883 |
DPAGT1 |
Q9H3H5 |
2.7.8.15
|
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-597592
R-HSA-597592
Reactome Name: Post-translational protein modification
See in Reactome
|
Metabolism of proteins
|
R-HSA-446191
(
R-HSA-446193
)
R-HSA-446191
Reaction Name: Addition of N-acetyl-D-glucosamine to Dolichyl phosphate
See in Reactome
|
MONDO:0014543 |
ALG2 |
Q9H553 |
2.4.1.132
2.4.1.257
|
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-597592
R-HSA-597592
Reactome Name: Post-translational protein modification
See in Reactome
|
Metabolism of proteins
|
R-HSA-446208
(
R-HSA-446193
)
R-HSA-446208
Reaction Name: Addition of a second mannose to the N-glycan precursor by ALG2
See in Reactome
R-HSA-449718
(
R-HSA-446193
)
R-HSA-449718
Reaction Name: Addition of a third mannose to the N-glycan precursor by ALG2
See in Reactome
|
MONDO:0019181 |
ALG13 |
Q9NP73 |
2.4.1.141
3.4.19.12
|
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-597592
R-HSA-597592
Reactome Name: Post-translational protein modification
See in Reactome
|
Metabolism of proteins
|
R-HSA-446207
(
R-HSA-446193
)
R-HSA-446207
Reaction Name: ALG13:ALG14 transfers GlcNAc from UDP-GlcNAc to GlcNAcDOLP
See in Reactome
|
MONDO:0054743 |
ALG8 |
Q9BVK2 |
2.4.1.265
|
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-597592
R-HSA-597592
Reactome Name: Post-translational protein modification
See in Reactome
|
Metabolism of proteins
|
R-HSA-446189
(
R-HSA-446193
)
R-HSA-446189
Reaction Name: Addition of a second glucose to the N-glycan precursor by ALG8
See in Reactome
|