PubMed:16037491
Annnotations
Glycan-Motif
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 161-167 | https://glytoucan.org/Structures/Glycans/G00031MO | denotes | core 1 |
GlyCosmos6-Glycan-Motif-Image
| Id | Subject | Object | Predicate | Lexical cue | image |
|---|---|---|---|---|---|
| T1 | 161-167 | Glycan_Motif | denotes | core 1 | https://api.glycosmos.org/wurcs2image/0.10.0/png/binary/G00031MO |
sentences
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TextSentencer_T1 | 0-122 | Sentence | denotes | Patients with unsolved congenital disorders of glycosylation type II can be subdivided in six distinct biochemical groups. |
| TextSentencer_T2 | 123-279 | Sentence | denotes | Defects in the biosynthesis of N- and core 1 O-glycans may be found by isoelectric focusing (IEF) of plasma transferrin and apolipoprotein C-III (apoC-III). |
| TextSentencer_T3 | 280-521 | Sentence | denotes | We hypothesized that IEF of transferrin and apoC-III in combination with sodium dodecyl sulphate-polyacrylamide gel electrophoresis (SDS-PAGE) of apoC-III may provide a classification for congenital disorders of glycosylation (CDG) patients. |
| TextSentencer_T4 | 522-646 | Sentence | denotes | We analyzed plasma from 22 patients with eight different and well-characterized CDG subtypes and 19 cases with unsolved CDG. |
| TextSentencer_T5 | 647-782 | Sentence | denotes | Transferrin IEF (TIEF) has been used to distinguish between N-glycan assembly (type 1 profile) and processing (type 2 profile) defects. |
| TextSentencer_T6 | 783-840 | Sentence | denotes | We differentiated two different CDG type 2 TIEF profiles: |
| TextSentencer_T7 | 841-1027 | Sentence | denotes | The "asialo profile" characterized by elevated levels of asialo- and monosialotransferrin and the "disialo profile" characterized by increased levels of disialo- and trisialotransferrin. |
| TextSentencer_T8 | 1028-1111 | Sentence | denotes | ApoC-III IEF gave two abnormal profiles ("apoC-III(0)" and "apoC-III(1)" profiles). |
| TextSentencer_T9 | 1112-1252 | Sentence | denotes | The results for the eight established CDG forms exactly matched the theoretical expectations, providing a validation for the study approach. |
| TextSentencer_T10 | 1253-1407 | Sentence | denotes | The combination of the three electrophoretic techniques was not additionally informative for the CDG-Ix patients as they had normal apoC-III IEF patterns. |
| TextSentencer_T11 | 1408-1497 | Sentence | denotes | However, the CDG-IIx patients could be further subdivided into six biochemical subgroups. |
| TextSentencer_T12 | 1498-1736 | Sentence | denotes | The robustness of the methodology was supported by the fact that three patients with similar clinical features ended in the same subgroup and that another patient, classified in the "CDG-IIe subgroup," turned out to have a similar defect. |
| TextSentencer_T13 | 1737-1922 | Sentence | denotes | Dividing the CDG-IIx patients in six subgroups narrows down drastically the options of the primary defect in each of the subgroups and will be helpful to define new CDG type II defects. |
| T1 | 0-122 | Sentence | denotes | Patients with unsolved congenital disorders of glycosylation type II can be subdivided in six distinct biochemical groups. |
| T2 | 123-279 | Sentence | denotes | Defects in the biosynthesis of N- and core 1 O-glycans may be found by isoelectric focusing (IEF) of plasma transferrin and apolipoprotein C-III (apoC-III). |
| T3 | 280-521 | Sentence | denotes | We hypothesized that IEF of transferrin and apoC-III in combination with sodium dodecyl sulphate-polyacrylamide gel electrophoresis (SDS-PAGE) of apoC-III may provide a classification for congenital disorders of glycosylation (CDG) patients. |
| T4 | 522-646 | Sentence | denotes | We analyzed plasma from 22 patients with eight different and well-characterized CDG subtypes and 19 cases with unsolved CDG. |
| T5 | 647-782 | Sentence | denotes | Transferrin IEF (TIEF) has been used to distinguish between N-glycan assembly (type 1 profile) and processing (type 2 profile) defects. |
| T6 | 783-840 | Sentence | denotes | We differentiated two different CDG type 2 TIEF profiles: |
| T7 | 841-1027 | Sentence | denotes | The "asialo profile" characterized by elevated levels of asialo- and monosialotransferrin and the "disialo profile" characterized by increased levels of disialo- and trisialotransferrin. |
| T8 | 1028-1111 | Sentence | denotes | ApoC-III IEF gave two abnormal profiles ("apoC-III(0)" and "apoC-III(1)" profiles). |
| T9 | 1112-1252 | Sentence | denotes | The results for the eight established CDG forms exactly matched the theoretical expectations, providing a validation for the study approach. |
| T10 | 1253-1407 | Sentence | denotes | The combination of the three electrophoretic techniques was not additionally informative for the CDG-Ix patients as they had normal apoC-III IEF patterns. |
| T11 | 1408-1497 | Sentence | denotes | However, the CDG-IIx patients could be further subdivided into six biochemical subgroups. |
| T12 | 1498-1736 | Sentence | denotes | The robustness of the methodology was supported by the fact that three patients with similar clinical features ended in the same subgroup and that another patient, classified in the "CDG-IIe subgroup," turned out to have a similar defect. |
| T13 | 1737-1922 | Sentence | denotes | Dividing the CDG-IIx patients in six subgroups narrows down drastically the options of the primary defect in each of the subgroups and will be helpful to define new CDG type II defects. |
| T1 | 0-122 | Sentence | denotes | Patients with unsolved congenital disorders of glycosylation type II can be subdivided in six distinct biochemical groups. |
| T2 | 123-279 | Sentence | denotes | Defects in the biosynthesis of N- and core 1 O-glycans may be found by isoelectric focusing (IEF) of plasma transferrin and apolipoprotein C-III (apoC-III). |
| T3 | 280-521 | Sentence | denotes | We hypothesized that IEF of transferrin and apoC-III in combination with sodium dodecyl sulphate-polyacrylamide gel electrophoresis (SDS-PAGE) of apoC-III may provide a classification for congenital disorders of glycosylation (CDG) patients. |
| T4 | 522-646 | Sentence | denotes | We analyzed plasma from 22 patients with eight different and well-characterized CDG subtypes and 19 cases with unsolved CDG. |
| T5 | 647-782 | Sentence | denotes | Transferrin IEF (TIEF) has been used to distinguish between N-glycan assembly (type 1 profile) and processing (type 2 profile) defects. |
| T6 | 783-840 | Sentence | denotes | We differentiated two different CDG type 2 TIEF profiles: |
| T7 | 841-1027 | Sentence | denotes | The "asialo profile" characterized by elevated levels of asialo- and monosialotransferrin and the "disialo profile" characterized by increased levels of disialo- and trisialotransferrin. |
| T8 | 1028-1111 | Sentence | denotes | ApoC-III IEF gave two abnormal profiles ("apoC-III(0)" and "apoC-III(1)" profiles). |
| T9 | 1112-1252 | Sentence | denotes | The results for the eight established CDG forms exactly matched the theoretical expectations, providing a validation for the study approach. |
| T10 | 1253-1407 | Sentence | denotes | The combination of the three electrophoretic techniques was not additionally informative for the CDG-Ix patients as they had normal apoC-III IEF patterns. |
| T11 | 1408-1497 | Sentence | denotes | However, the CDG-IIx patients could be further subdivided into six biochemical subgroups. |
| T12 | 1498-1736 | Sentence | denotes | The robustness of the methodology was supported by the fact that three patients with similar clinical features ended in the same subgroup and that another patient, classified in the "CDG-IIe subgroup," turned out to have a similar defect. |
| T13 | 1737-1922 | Sentence | denotes | Dividing the CDG-IIx patients in six subgroups narrows down drastically the options of the primary defect in each of the subgroups and will be helpful to define new CDG type II defects. |
GlyCosmos6-Glycan-Motif-Structure
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 161-167 | https://glytoucan.org/Structures/Glycans/G00031MO | denotes | core 1 |
GlycoBiology-GDGDB
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| _T1 | 23-65 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00621 | denotes | congenital disorders of glycosylation type |
| _T2 | 23-65 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00360 | denotes | congenital disorders of glycosylation type |
| _T3 | 23-65 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00343 | denotes | congenital disorders of glycosylation type |
| _T4 | 23-65 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00627 | denotes | congenital disorders of glycosylation type |
| _T5 | 23-65 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00344 | denotes | congenital disorders of glycosylation type |
| _T6 | 23-65 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00626 | denotes | congenital disorders of glycosylation type |
| _T7 | 23-65 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00345 | denotes | congenital disorders of glycosylation type |
| _T8 | 23-65 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00367 | denotes | congenital disorders of glycosylation type |
| _T9 | 23-65 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00346 | denotes | congenital disorders of glycosylation type |
| _T10 | 23-65 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00365 | denotes | congenital disorders of glycosylation type |
| _T11 | 23-65 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00347 | denotes | congenital disorders of glycosylation type |
| _T12 | 23-65 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00364 | denotes | congenital disorders of glycosylation type |
| _T13 | 23-65 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00348 | denotes | congenital disorders of glycosylation type |
| _T14 | 23-65 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00363 | denotes | congenital disorders of glycosylation type |
| _T15 | 23-65 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00349 | denotes | congenital disorders of glycosylation type |
| _T16 | 23-65 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00362 | denotes | congenital disorders of glycosylation type |
| _T17 | 23-65 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00622 | denotes | congenital disorders of glycosylation type |
| _T18 | 23-65 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00361 | denotes | congenital disorders of glycosylation type |
| _T19 | 23-65 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00620 | denotes | congenital disorders of glycosylation type |
| _T20 | 23-65 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00359 | denotes | congenital disorders of glycosylation type |
| _T21 | 23-65 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00352 | denotes | congenital disorders of glycosylation type |
| _T22 | 23-65 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00358 | denotes | congenital disorders of glycosylation type |
| _T23 | 23-65 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00353 | denotes | congenital disorders of glycosylation type |
| _T24 | 23-65 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00625 | denotes | congenital disorders of glycosylation type |
| _T25 | 23-65 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00354 | denotes | congenital disorders of glycosylation type |
| _T26 | 23-65 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00624 | denotes | congenital disorders of glycosylation type |
| _T27 | 23-65 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00355 | denotes | congenital disorders of glycosylation type |
| _T28 | 23-65 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00623 | denotes | congenital disorders of glycosylation type |
| _T29 | 23-65 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00356 | denotes | congenital disorders of glycosylation type |
| _T30 | 23-65 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00350 | denotes | congenital disorders of glycosylation type |
| _T31 | 23-68 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00351 | denotes | congenital disorders of glycosylation type II |
| _T32 | 23-68 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00343 | denotes | congenital disorders of glycosylation type II |
| _T33 | 468-505 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00620 | denotes | congenital disorders of glycosylation |
| _T34 | 468-505 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00621 | denotes | congenital disorders of glycosylation |
| _T35 | 468-505 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00356 | denotes | congenital disorders of glycosylation |
| _T36 | 468-505 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00622 | denotes | congenital disorders of glycosylation |
| _T37 | 468-505 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00355 | denotes | congenital disorders of glycosylation |
| _T38 | 468-505 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00623 | denotes | congenital disorders of glycosylation |
| _T39 | 468-505 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00354 | denotes | congenital disorders of glycosylation |
| _T40 | 468-505 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00624 | denotes | congenital disorders of glycosylation |
| _T41 | 468-505 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00353 | denotes | congenital disorders of glycosylation |
| _T42 | 468-505 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00625 | denotes | congenital disorders of glycosylation |
| _T43 | 468-505 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00352 | denotes | congenital disorders of glycosylation |
| _T44 | 468-505 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00358 | denotes | congenital disorders of glycosylation |
| _T45 | 468-505 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00351 | denotes | congenital disorders of glycosylation |
| _T46 | 468-505 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00359 | denotes | congenital disorders of glycosylation |
| _T47 | 468-505 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00350 | denotes | congenital disorders of glycosylation |
| _T48 | 468-505 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00361 | denotes | congenital disorders of glycosylation |
| _T49 | 468-505 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00349 | denotes | congenital disorders of glycosylation |
| _T50 | 468-505 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00343 | denotes | congenital disorders of glycosylation |
| _T51 | 468-505 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00348 | denotes | congenital disorders of glycosylation |
| _T52 | 468-505 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00363 | denotes | congenital disorders of glycosylation |
| _T53 | 468-505 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00347 | denotes | congenital disorders of glycosylation |
| _T54 | 468-505 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00364 | denotes | congenital disorders of glycosylation |
| _T55 | 468-505 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00346 | denotes | congenital disorders of glycosylation |
| _T56 | 468-505 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00365 | denotes | congenital disorders of glycosylation |
| _T57 | 468-505 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00345 | denotes | congenital disorders of glycosylation |
| _T58 | 468-505 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00367 | denotes | congenital disorders of glycosylation |
| _T59 | 468-505 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00344 | denotes | congenital disorders of glycosylation |
| _T60 | 468-505 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00626 | denotes | congenital disorders of glycosylation |
| _T61 | 468-505 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00627 | denotes | congenital disorders of glycosylation |
| _T62 | 468-505 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00360 | denotes | congenital disorders of glycosylation |
| _T63 | 468-505 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00362 | denotes | congenital disorders of glycosylation |
| _T64 | 1681-1688 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00362 | denotes | CDG-IIe |
| _T65 | 1681-1688 | http://acgg.asia/db/diseases/gdgdb?con_ui=CON00347 | denotes | CDG-IIe |
uniprot-human
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 231-242 | http://www.uniprot.org/uniprot/P02787 | denotes | transferrin |
| T2 | 308-319 | http://www.uniprot.org/uniprot/P02787 | denotes | transferrin |
| T3 | 647-658 | http://www.uniprot.org/uniprot/P02787 | denotes | Transferrin |
| T4 | 247-261 | http://www.uniprot.org/uniprot/P08519 | denotes | apolipoprotein |
| T5 | 264-273 | http://www.uniprot.org/uniprot/P02656 | denotes | III (apoC |
| T6 | 324-332 | http://www.uniprot.org/uniprot/P02656 | denotes | apoC-III |
| T7 | 426-434 | http://www.uniprot.org/uniprot/P02656 | denotes | apoC-III |
| T8 | 1070-1078 | http://www.uniprot.org/uniprot/P02656 | denotes | apoC-III |
| T9 | 1088-1096 | http://www.uniprot.org/uniprot/P02656 | denotes | apoC-III |
| T10 | 1385-1393 | http://www.uniprot.org/uniprot/P02656 | denotes | apoC-III |
| T11 | 413-416 | http://www.uniprot.org/uniprot/P20132 | denotes | SDS |
uniprot-mouse
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 231-242 | http://www.uniprot.org/uniprot/Q63915 | denotes | transferrin |
| T2 | 308-319 | http://www.uniprot.org/uniprot/Q63915 | denotes | transferrin |
| T3 | 647-658 | http://www.uniprot.org/uniprot/Q63915 | denotes | Transferrin |
| T4 | 264-273 | http://www.uniprot.org/uniprot/P33622 | denotes | III (apoC |
| T5 | 324-332 | http://www.uniprot.org/uniprot/P33622 | denotes | apoC-III |
| T6 | 426-434 | http://www.uniprot.org/uniprot/P33622 | denotes | apoC-III |
| T7 | 1070-1078 | http://www.uniprot.org/uniprot/P33622 | denotes | apoC-III |
| T8 | 1088-1096 | http://www.uniprot.org/uniprot/P33622 | denotes | apoC-III |
| T9 | 1385-1393 | http://www.uniprot.org/uniprot/P33622 | denotes | apoC-III |
GlycoBiology-NCBITAXON
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 115-121 | http://purl.bioontology.org/ontology/STY/T096 | denotes | groups |
| T2 | 1282-1297 | http://purl.bioontology.org/ontology/NCBITAXON/8004 | denotes | electrophoretic |
GO-BP
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 47-60 | http://purl.obolibrary.org/obo/GO_0070085 | denotes | glycosylation |
| T2 | 492-505 | http://purl.obolibrary.org/obo/GO_0070085 | denotes | glycosylation |
| T3 | 138-150 | http://purl.obolibrary.org/obo/GO_0009058 | denotes | biosynthesis |
| T4 | 247-261 | http://purl.obolibrary.org/obo/GO_0005319 | denotes | apolipoprotein |
| T5 | 368-376 | http://purl.obolibrary.org/obo/GO_0051923 | denotes | sulphate |
GO-CC
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 161-165 | http://purl.obolibrary.org/obo/GO_0019013 | denotes | core |
EDAM-topics
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 247-261 | http://edamontology.org/topic_2232 | denotes | apolipoprotein |
| T2 | 247-261 | http://edamontology.org/topic_0820 | denotes | apolipoprotein |
| T3 | 449-463 | http://edamontology.org/topic_2230 | denotes | classification |
| T4 | 716-724 | http://edamontology.org/topic_0196 | denotes | assembly |
| T5 | 1237-1242 | http://edamontology.org/topic_3678 | denotes | study |
EDAM-DFO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 449-463 | http://edamontology.org/operation_2990 | denotes | classification |
| T2 | 716-724 | http://edamontology.org/operation_3433 | denotes | assembly |
| T3 | 746-756 | http://edamontology.org/operation_0004 | denotes | processing |
| T4 | 746-756 | http://edamontology.org/operation_2409 | denotes | processing |
| T5 | 1168-1175 | http://edamontology.org/format_1990 | denotes | matched |
| T6 | 1218-1228 | http://edamontology.org/operation_2428 | denotes | validation |
| T7 | 1378-1384 | http://edamontology.org/operation_3435 | denotes | normal |
| T8 | 1600-1608 | http://edamontology.org/data_1255 | denotes | features |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 16037491-2#44#52#gene345 | 324-332 | gene345 | denotes | apoC-III |
| 16037491-2#133#136#gene10993 | 413-416 | gene10993 | denotes | SDS |
| 16037491-2#146#154#gene345 | 426-434 | gene345 | denotes | apoC-III |
| 16037491-2#188#225#diseaseC0282577 | 468-505 | diseaseC0282577 | denotes | congenital disorders of glycosylation |
| 16037491-2#227#230#diseaseC0282577 | 507-510 | diseaseC0282577 | denotes | CDG |
| 16037491-2#188#225#diseaseC0282577 | 468-505 | diseaseC0282577 | denotes | congenital disorders of glycosylation |
| 16037491-2#227#230#diseaseC0282577 | 507-510 | diseaseC0282577 | denotes | CDG |
| 16037491-2#188#225#diseaseC0282577 | 468-505 | diseaseC0282577 | denotes | congenital disorders of glycosylation |
| 16037491-2#227#230#diseaseC0282577 | 507-510 | diseaseC0282577 | denotes | CDG |
| 44#52#gene345188#225#diseaseC0282577 | 16037491-2#44#52#gene345 | 16037491-2#188#225#diseaseC0282577 | associated_with | apoC-III,congenital disorders of glycosylation |
| 44#52#gene345227#230#diseaseC0282577 | 16037491-2#44#52#gene345 | 16037491-2#227#230#diseaseC0282577 | associated_with | apoC-III,CDG |
| 44#52#gene345188#225#diseaseC0282577 | 16037491-2#44#52#gene345 | 16037491-2#188#225#diseaseC0282577 | associated_with | apoC-III,congenital disorders of glycosylation |
| 44#52#gene345227#230#diseaseC0282577 | 16037491-2#44#52#gene345 | 16037491-2#227#230#diseaseC0282577 | associated_with | apoC-III,CDG |
| 44#52#gene345188#225#diseaseC0282577 | 16037491-2#44#52#gene345 | 16037491-2#188#225#diseaseC0282577 | associated_with | apoC-III,congenital disorders of glycosylation |
| 44#52#gene345227#230#diseaseC0282577 | 16037491-2#44#52#gene345 | 16037491-2#227#230#diseaseC0282577 | associated_with | apoC-III,CDG |
| 133#136#gene10993188#225#diseaseC0282577 | 16037491-2#133#136#gene10993 | 16037491-2#188#225#diseaseC0282577 | associated_with | SDS,congenital disorders of glycosylation |
| 133#136#gene10993227#230#diseaseC0282577 | 16037491-2#133#136#gene10993 | 16037491-2#227#230#diseaseC0282577 | associated_with | SDS,CDG |
| 133#136#gene10993188#225#diseaseC0282577 | 16037491-2#133#136#gene10993 | 16037491-2#188#225#diseaseC0282577 | associated_with | SDS,congenital disorders of glycosylation |
| 133#136#gene10993227#230#diseaseC0282577 | 16037491-2#133#136#gene10993 | 16037491-2#227#230#diseaseC0282577 | associated_with | SDS,CDG |
| 133#136#gene10993188#225#diseaseC0282577 | 16037491-2#133#136#gene10993 | 16037491-2#188#225#diseaseC0282577 | associated_with | SDS,congenital disorders of glycosylation |
| 133#136#gene10993227#230#diseaseC0282577 | 16037491-2#133#136#gene10993 | 16037491-2#227#230#diseaseC0282577 | associated_with | SDS,CDG |
| 146#154#gene345188#225#diseaseC0282577 | 16037491-2#146#154#gene345 | 16037491-2#188#225#diseaseC0282577 | associated_with | apoC-III,congenital disorders of glycosylation |
| 146#154#gene345227#230#diseaseC0282577 | 16037491-2#146#154#gene345 | 16037491-2#227#230#diseaseC0282577 | associated_with | apoC-III,CDG |
| 146#154#gene345188#225#diseaseC0282577 | 16037491-2#146#154#gene345 | 16037491-2#188#225#diseaseC0282577 | associated_with | apoC-III,congenital disorders of glycosylation |
| 146#154#gene345227#230#diseaseC0282577 | 16037491-2#146#154#gene345 | 16037491-2#227#230#diseaseC0282577 | associated_with | apoC-III,CDG |
| 146#154#gene345188#225#diseaseC0282577 | 16037491-2#146#154#gene345 | 16037491-2#188#225#diseaseC0282577 | associated_with | apoC-III,congenital disorders of glycosylation |
| 146#154#gene345227#230#diseaseC0282577 | 16037491-2#146#154#gene345 | 16037491-2#227#230#diseaseC0282577 | associated_with | apoC-III,CDG |
GlycoBiology-Motifs
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 707-715 | http://rdf.glycoinfo.org/glycan/G00027MO | denotes | N-glycan |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 324-332 | gene:345 | denotes | apoC-III |
| T1 | 468-505 | disease:C0282577 | denotes | congenital disorders of glycosylation |
| T2 | 324-332 | gene:345 | denotes | apoC-III |
| T3 | 507-510 | disease:C0282577 | denotes | CDG |
| T4 | 413-416 | gene:51119 | denotes | SDS |
| T5 | 468-505 | disease:C0282577 | denotes | congenital disorders of glycosylation |
| T6 | 413-416 | gene:10993 | denotes | SDS |
| T7 | 468-505 | disease:C0282577 | denotes | congenital disorders of glycosylation |
| T8 | 426-434 | gene:345 | denotes | apoC-III |
| T9 | 468-505 | disease:C0282577 | denotes | congenital disorders of glycosylation |
| T10 | 426-434 | gene:345 | denotes | apoC-III |
| T11 | 507-510 | disease:C0282577 | denotes | CDG |
| R1 | T0 | T1 | associated_with | apoC-III,congenital disorders of glycosylation |
| R2 | T2 | T3 | associated_with | apoC-III,CDG |
| R3 | T4 | T5 | associated_with | SDS,congenital disorders of glycosylation |
| R4 | T6 | T7 | associated_with | SDS,congenital disorders of glycosylation |
| R5 | T8 | T9 | associated_with | apoC-III,congenital disorders of glycosylation |
| R6 | T10 | T11 | associated_with | apoC-III,CDG |
GlyCosmos15-Glycan
| Id | Subject | Object | Predicate | Lexical cue | image |
|---|---|---|---|---|---|
| T1 | 161-167 | Glycan | denotes | core 1 | https://api.glycosmos.org/wurcs2image/latest/png/binary/G00031MO |
mondo_disease
| Id | Subject | Object | Predicate | Lexical cue | mondo_id |
|---|---|---|---|---|---|
| T1 | 23-68 | Disease | denotes | congenital disorders of glycosylation type II | http://purl.obolibrary.org/obo/MONDO_0005501 |
| T2 | 468-505 | Disease | denotes | congenital disorders of glycosylation | http://purl.obolibrary.org/obo/MONDO_0015286 |
| T3 | 507-510 | Disease | denotes | CDG | http://purl.obolibrary.org/obo/MONDO_0015286 |
| T4 | 602-605 | Disease | denotes | CDG | http://purl.obolibrary.org/obo/MONDO_0015286 |
| T5 | 642-645 | Disease | denotes | CDG | http://purl.obolibrary.org/obo/MONDO_0015286 |
| T6 | 815-818 | Disease | denotes | CDG | http://purl.obolibrary.org/obo/MONDO_0015286 |
| T7 | 1150-1153 | Disease | denotes | CDG | http://purl.obolibrary.org/obo/MONDO_0015286 |
| T8 | 1350-1356 | Disease | denotes | CDG-Ix | http://purl.obolibrary.org/obo/MONDO_0014271 |
| T9 | 1350-1353 | Disease | denotes | CDG | http://purl.obolibrary.org/obo/MONDO_0015286 |
| T10 | 1421-1424 | Disease | denotes | CDG | http://purl.obolibrary.org/obo/MONDO_0015286 |
| T11 | 1681-1688 | Disease | denotes | CDG-IIe | http://purl.obolibrary.org/obo/MONDO_0012118 |
| T12 | 1681-1684 | Disease | denotes | CDG | http://purl.obolibrary.org/obo/MONDO_0015286 |
| T13 | 1750-1753 | Disease | denotes | CDG | http://purl.obolibrary.org/obo/MONDO_0015286 |
| T14 | 1902-1905 | Disease | denotes | CDG | http://purl.obolibrary.org/obo/MONDO_0015286 |
Glycan-GlyCosmos
| Id | Subject | Object | Predicate | Lexical cue | image |
|---|---|---|---|---|---|
| T1 | 161-167 | Glycan | denotes | core 1 | https://api.glycosmos.org/wurcs2image/latest/png/binary/G00031MO |
GlyCosmos15-UBERON
| Id | Subject | Object | Predicate | Lexical cue | uberon_id |
|---|---|---|---|---|---|
| T1 | 224-230 | Body_part | denotes | plasma | http://purl.obolibrary.org/obo/UBERON_0001969 |
| T2 | 534-540 | Body_part | denotes | plasma | http://purl.obolibrary.org/obo/UBERON_0001969 |
GlyCosmos15-MONDO
| Id | Subject | Object | Predicate | Lexical cue | mondo_id |
|---|---|---|---|---|---|
| T1 | 23-68 | Disease | denotes | congenital disorders of glycosylation type II | MONDO:0005501 |
| T2 | 468-505 | Disease | denotes | congenital disorders of glycosylation | MONDO:0015286 |
| T3 | 507-510 | Disease | denotes | CDG | MONDO:0015286 |
| T4 | 602-605 | Disease | denotes | CDG | MONDO:0015286 |
| T5 | 642-645 | Disease | denotes | CDG | MONDO:0015286 |
| T6 | 815-818 | Disease | denotes | CDG | MONDO:0015286 |
| T7 | 1150-1153 | Disease | denotes | CDG | MONDO:0015286 |
| T8 | 1350-1356 | Disease | denotes | CDG-Ix | MONDO:0014271 |
| T9 | 1350-1353 | Disease | denotes | CDG | MONDO:0015286 |
| T10 | 1421-1424 | Disease | denotes | CDG | MONDO:0015286 |
| T11 | 1681-1688 | Disease | denotes | CDG-IIe | MONDO:0012118 |
| T12 | 1681-1684 | Disease | denotes | CDG | MONDO:0015286 |
| T13 | 1750-1753 | Disease | denotes | CDG | MONDO:0015286 |
| T14 | 1902-1905 | Disease | denotes | CDG | MONDO:0015286 |
GlyCosmos15-Taxon
| Id | Subject | Object | Predicate | Lexical cue | db_id |
|---|---|---|---|---|---|
| T1 | 0-8 | Organism | denotes | Patients | 9606 |
| T2 | 512-520 | Organism | denotes | patients | 9606 |
| T3 | 549-557 | Organism | denotes | patients | 9606 |
| T4 | 1357-1365 | Organism | denotes | patients | 9606 |
| T5 | 1429-1437 | Organism | denotes | patients | 9606 |
| T6 | 1569-1577 | Organism | denotes | patients | 9606 |
| T7 | 1653-1660 | Organism | denotes | patient | 9606 |
| T8 | 1758-1766 | Organism | denotes | patients | 9606 |
GlyCosmos15-Sentences
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-122 | Sentence | denotes | Patients with unsolved congenital disorders of glycosylation type II can be subdivided in six distinct biochemical groups. |
| T2 | 123-279 | Sentence | denotes | Defects in the biosynthesis of N- and core 1 O-glycans may be found by isoelectric focusing (IEF) of plasma transferrin and apolipoprotein C-III (apoC-III). |
| T3 | 280-521 | Sentence | denotes | We hypothesized that IEF of transferrin and apoC-III in combination with sodium dodecyl sulphate-polyacrylamide gel electrophoresis (SDS-PAGE) of apoC-III may provide a classification for congenital disorders of glycosylation (CDG) patients. |
| T4 | 522-646 | Sentence | denotes | We analyzed plasma from 22 patients with eight different and well-characterized CDG subtypes and 19 cases with unsolved CDG. |
| T5 | 647-782 | Sentence | denotes | Transferrin IEF (TIEF) has been used to distinguish between N-glycan assembly (type 1 profile) and processing (type 2 profile) defects. |
| T6 | 783-840 | Sentence | denotes | We differentiated two different CDG type 2 TIEF profiles: |
| T7 | 841-1027 | Sentence | denotes | The "asialo profile" characterized by elevated levels of asialo- and monosialotransferrin and the "disialo profile" characterized by increased levels of disialo- and trisialotransferrin. |
| T8 | 1028-1111 | Sentence | denotes | ApoC-III IEF gave two abnormal profiles ("apoC-III(0)" and "apoC-III(1)" profiles). |
| T9 | 1112-1252 | Sentence | denotes | The results for the eight established CDG forms exactly matched the theoretical expectations, providing a validation for the study approach. |
| T10 | 1253-1407 | Sentence | denotes | The combination of the three electrophoretic techniques was not additionally informative for the CDG-Ix patients as they had normal apoC-III IEF patterns. |
| T11 | 1408-1497 | Sentence | denotes | However, the CDG-IIx patients could be further subdivided into six biochemical subgroups. |
| T12 | 1498-1736 | Sentence | denotes | The robustness of the methodology was supported by the fact that three patients with similar clinical features ended in the same subgroup and that another patient, classified in the "CDG-IIe subgroup," turned out to have a similar defect. |
| T13 | 1737-1922 | Sentence | denotes | Dividing the CDG-IIx patients in six subgroups narrows down drastically the options of the primary defect in each of the subgroups and will be helpful to define new CDG type II defects. |
GlyCosmos15-FMA
| Id | Subject | Object | Predicate | Lexical cue | db_id |
|---|---|---|---|---|---|
| T1 | 224-230 | Body_part | denotes | plasma | FMA:62970 |
| T2 | 534-540 | Body_part | denotes | plasma | FMA:62970 |
NCBITAXON
| Id | Subject | Object | Predicate | Lexical cue | db_id |
|---|---|---|---|---|---|
| T1 | 1653-1660 | OrganismTaxon | denotes | patient | 9606 |
Anatomy-UBERON
| Id | Subject | Object | Predicate | Lexical cue | uberon_id |
|---|---|---|---|---|---|
| T1 | 224-230 | Body_part | denotes | plasma | http://purl.obolibrary.org/obo/UBERON_0001969 |
| T2 | 534-540 | Body_part | denotes | plasma | http://purl.obolibrary.org/obo/UBERON_0001969 |