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PubMed:15987957 JSONTXT

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PubTator4TogoVar

Id Subject Object Predicate Lexical cue proteinmutation
15987957_0 1061-1066 ProteinMutation denotes V216A rs779694939
15987957_1 1087-1092 ProteinMutation denotes A631V rs62541771
15987957_2 1094-1099 ProteinMutation denotes M712T rs28937594

Glycan-Motif

Id Subject Object Predicate Lexical cue
T1 43-62 https://glytoucan.org/Structures/Glycans/G64581RP denotes N-acetylglucosamine
T2 308-327 https://glytoucan.org/Structures/Glycans/G64581RP denotes N-acetylglucosamine
T3 443-454 https://glytoucan.org/Structures/Glycans/G81533KY denotes sialic acid
T4 1513-1524 https://glytoucan.org/Structures/Glycans/G81533KY denotes sialic acid

GlyCosmos6-Glycan-Motif-Image

Id Subject Object Predicate Lexical cue image
T1 43-62 Glycan_Motif denotes N-acetylglucosamine https://api.glycosmos.org/wurcs2image/0.10.0/png/binary/G64581RP
T2 308-327 Glycan_Motif denotes N-acetylglucosamine https://api.glycosmos.org/wurcs2image/0.10.0/png/binary/G64581RP
T3 443-454 Glycan_Motif denotes sialic acid https://api.glycosmos.org/wurcs2image/0.10.0/png/binary/G81533KY
T4 1513-1524 Glycan_Motif denotes sialic acid https://api.glycosmos.org/wurcs2image/0.10.0/png/binary/G81533KY

GlyCosmos6-Glycan-Motif-Structure

Id Subject Object Predicate Lexical cue
T1 43-62 https://glytoucan.org/Structures/Glycans/G64581RP denotes N-acetylglucosamine
T2 308-327 https://glytoucan.org/Structures/Glycans/G64581RP denotes N-acetylglucosamine
T3 443-454 https://glytoucan.org/Structures/Glycans/G81533KY denotes sialic acid
T4 1513-1524 https://glytoucan.org/Structures/Glycans/G81533KY denotes sialic acid

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-161 Sentence denotes Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy.
TextSentencer_T2 162-468 Sentence denotes Hereditary inclusion body myopathy (HIBM) is an autosomal recessive neuromuscular disorder associated with mutations in uridine diphosphate (UDP)-N-acetylglucosamine (GlcNAc) 2-epimerase (GNE)/N-acetylmannosamine (ManNAc) kinase (MNK), the bifunctional and rate-limiting enzyme of sialic acid biosynthesis.
TextSentencer_T3 469-684 Sentence denotes We developed individual GNE and MNK enzymatic assays and determined reduced activities in cultured fibroblasts of patients, with HIBM harboring missense mutations in either or both the GNE and MNK enzymatic domains.
TextSentencer_T4 685-920 Sentence denotes To assess the effects of individual mutations on enzyme activity, normal and mutated GNE/MNK enzymatic domains were synthesized in a cell-free in vitro transcription-translation system and subjected to the GNE and MNK enzymatic assays.
TextSentencer_T5 921-1192 Sentence denotes This cell-free system was validated for both GNE and MNK activities, and it revealed that mutations in one enzymatic domain (in GNE, G135V, V216A, and R246W; in MNK, A631V, M712T) affected not only that domain's enzyme activity, but also the activity of the other domain.
TextSentencer_T6 1193-1351 Sentence denotes Moreover, studies of the residual enzyme activity associated with specific mutations revealed a discrepancy between the fibroblasts and the cell-free systems.
TextSentencer_T7 1352-1447 Sentence denotes Fibroblasts exhibited higher residual activities of both GNE and MNK than the cell-free system.
TextSentencer_T8 1448-1538 Sentence denotes These findings add complexity to the tightly regulated system of sialic acid biosynthesis.
TextSentencer_T9 1539-1741 Sentence denotes This cell-free approach can be applied to other glycosylation pathway enzymes that are difficult to evaluate in whole cells because their substrate specificities overlap with those of ancillary enzymes.
T1 0-161 Sentence denotes Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy.
T2 162-468 Sentence denotes Hereditary inclusion body myopathy (HIBM) is an autosomal recessive neuromuscular disorder associated with mutations in uridine diphosphate (UDP)-N-acetylglucosamine (GlcNAc) 2-epimerase (GNE)/N-acetylmannosamine (ManNAc) kinase (MNK), the bifunctional and rate-limiting enzyme of sialic acid biosynthesis.
T3 469-684 Sentence denotes We developed individual GNE and MNK enzymatic assays and determined reduced activities in cultured fibroblasts of patients, with HIBM harboring missense mutations in either or both the GNE and MNK enzymatic domains.
T4 685-920 Sentence denotes To assess the effects of individual mutations on enzyme activity, normal and mutated GNE/MNK enzymatic domains were synthesized in a cell-free in vitro transcription-translation system and subjected to the GNE and MNK enzymatic assays.
T5 921-1192 Sentence denotes This cell-free system was validated for both GNE and MNK activities, and it revealed that mutations in one enzymatic domain (in GNE, G135V, V216A, and R246W; in MNK, A631V, M712T) affected not only that domain's enzyme activity, but also the activity of the other domain.
T6 1193-1351 Sentence denotes Moreover, studies of the residual enzyme activity associated with specific mutations revealed a discrepancy between the fibroblasts and the cell-free systems.
T7 1352-1447 Sentence denotes Fibroblasts exhibited higher residual activities of both GNE and MNK than the cell-free system.
T8 1448-1538 Sentence denotes These findings add complexity to the tightly regulated system of sialic acid biosynthesis.
T9 1539-1741 Sentence denotes This cell-free approach can be applied to other glycosylation pathway enzymes that are difficult to evaluate in whole cells because their substrate specificities overlap with those of ancillary enzymes.
T1 0-161 Sentence denotes Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy.
T2 162-468 Sentence denotes Hereditary inclusion body myopathy (HIBM) is an autosomal recessive neuromuscular disorder associated with mutations in uridine diphosphate (UDP)-N-acetylglucosamine (GlcNAc) 2-epimerase (GNE)/N-acetylmannosamine (ManNAc) kinase (MNK), the bifunctional and rate-limiting enzyme of sialic acid biosynthesis.
T3 469-684 Sentence denotes We developed individual GNE and MNK enzymatic assays and determined reduced activities in cultured fibroblasts of patients, with HIBM harboring missense mutations in either or both the GNE and MNK enzymatic domains.
T4 685-920 Sentence denotes To assess the effects of individual mutations on enzyme activity, normal and mutated GNE/MNK enzymatic domains were synthesized in a cell-free in vitro transcription-translation system and subjected to the GNE and MNK enzymatic assays.
T5 921-1192 Sentence denotes This cell-free system was validated for both GNE and MNK activities, and it revealed that mutations in one enzymatic domain (in GNE, G135V, V216A, and R246W; in MNK, A631V, M712T) affected not only that domain's enzyme activity, but also the activity of the other domain.
T6 1193-1351 Sentence denotes Moreover, studies of the residual enzyme activity associated with specific mutations revealed a discrepancy between the fibroblasts and the cell-free systems.
T7 1352-1447 Sentence denotes Fibroblasts exhibited higher residual activities of both GNE and MNK than the cell-free system.
T8 1448-1538 Sentence denotes These findings add complexity to the tightly regulated system of sialic acid biosynthesis.
T9 1539-1741 Sentence denotes This cell-free approach can be applied to other glycosylation pathway enzymes that are difficult to evaluate in whole cells because their substrate specificities overlap with those of ancillary enzymes.

GlycoBiology-GDGDB

Id Subject Object Predicate Lexical cue
_T1 350-353 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00385 denotes GNE
_T2 350-353 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00386 denotes GNE
_T3 493-496 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00385 denotes GNE
_T4 493-496 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00386 denotes GNE
_T5 654-657 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00385 denotes GNE
_T6 654-657 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00386 denotes GNE
_T7 770-773 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00385 denotes GNE
_T8 770-773 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00386 denotes GNE
_T9 891-894 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00385 denotes GNE
_T10 891-894 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00386 denotes GNE
_T11 966-969 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00385 denotes GNE
_T12 966-969 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00386 denotes GNE
_T13 1049-1052 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00385 denotes GNE
_T14 1049-1052 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00386 denotes GNE
_T15 1409-1412 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00385 denotes GNE
_T16 1409-1412 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00386 denotes GNE
_T17 126-160 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00385 denotes hereditary inclusion body myopathy
_T18 162-196 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00385 denotes Hereditary inclusion body myopathy

ICD10

Id Subject Object Predicate Lexical cue
T1 152-160 http://purl.bioontology.org/ontology/ICD10/G72.9 denotes myopathy
T2 188-196 http://purl.bioontology.org/ontology/ICD10/G72.9 denotes myopathy

uniprot-human

Id Subject Object Predicate Lexical cue
T1 63-80 http://www.uniprot.org/uniprot/P51606 denotes 2-epimerase and N
T2 79-105 http://www.uniprot.org/uniprot/F5H499 denotes N-acetylmannosamine kinase
T3 329-348 http://www.uniprot.org/uniprot/F5H499 denotes GlcNAc) 2-epimerase
T4 350-353 http://www.uniprot.org/uniprot/F5H499 denotes GNE
T5 493-496 http://www.uniprot.org/uniprot/F5H499 denotes GNE
T6 654-657 http://www.uniprot.org/uniprot/F5H499 denotes GNE
T7 770-773 http://www.uniprot.org/uniprot/F5H499 denotes GNE
T8 891-894 http://www.uniprot.org/uniprot/F5H499 denotes GNE
T9 966-969 http://www.uniprot.org/uniprot/F5H499 denotes GNE
T10 1049-1052 http://www.uniprot.org/uniprot/F5H499 denotes GNE
T11 1409-1412 http://www.uniprot.org/uniprot/F5H499 denotes GNE
T12 392-395 http://www.uniprot.org/uniprot/Q04656 denotes MNK
T13 501-504 http://www.uniprot.org/uniprot/Q04656 denotes MNK
T14 662-665 http://www.uniprot.org/uniprot/Q04656 denotes MNK
T15 774-777 http://www.uniprot.org/uniprot/Q04656 denotes MNK
T16 899-902 http://www.uniprot.org/uniprot/Q04656 denotes MNK
T17 974-977 http://www.uniprot.org/uniprot/Q04656 denotes MNK
T18 1082-1085 http://www.uniprot.org/uniprot/Q04656 denotes MNK
T19 1417-1420 http://www.uniprot.org/uniprot/Q04656 denotes MNK

uniprot-mouse

Id Subject Object Predicate Lexical cue
T1 79-105 http://www.uniprot.org/uniprot/Q91WG8 denotes N-acetylmannosamine kinase

GlycoBiology-NCBITAXON

Id Subject Object Predicate Lexical cue
T1 210-219 http://purl.bioontology.org/ontology/NCBITAXON/150701 denotes autosomal
T2 1454-1462 http://purl.bioontology.org/ontology/STY/T033 denotes findings
T3 1657-1662 http://purl.bioontology.org/ontology/STY/T025 denotes cells

GO-BP

Id Subject Object Predicate Lexical cue
T1 79-116 http://purl.obolibrary.org/obo/GO_0009384 denotes N-acetylmannosamine kinase activities
T2 99-116 http://purl.obolibrary.org/obo/GO_0033674 denotes kinase activities
T3 99-116 http://purl.obolibrary.org/obo/GO_0016301 denotes kinase activities
T4 455-467 http://purl.obolibrary.org/obo/GO_0009058 denotes biosynthesis
T5 1525-1537 http://purl.obolibrary.org/obo/GO_0009058 denotes biosynthesis
T6 472-481 http://purl.obolibrary.org/obo/GO_0032502 denotes developed
T7 734-749 http://purl.obolibrary.org/obo/GO_0003824 denotes enzyme activity
T8 1133-1148 http://purl.obolibrary.org/obo/GO_0003824 denotes enzyme activity
T9 1227-1242 http://purl.obolibrary.org/obo/GO_0003824 denotes enzyme activity
T10 837-850 http://purl.obolibrary.org/obo/GO_0006351 denotes transcription
T11 851-862 http://purl.obolibrary.org/obo/GO_0006412 denotes translation
T12 1493-1502 http://purl.obolibrary.org/obo/GO_0065007 denotes regulated
T13 1587-1600 http://purl.obolibrary.org/obo/GO_0070085 denotes glycosylation

GO-CC

Id Subject Object Predicate Lexical cue
T1 9-13 http://purl.obolibrary.org/obo/GO_0005623 denotes cell
T2 818-822 http://purl.obolibrary.org/obo/GO_0005623 denotes cell
T3 926-930 http://purl.obolibrary.org/obo/GO_0005623 denotes cell
T4 1333-1337 http://purl.obolibrary.org/obo/GO_0005623 denotes cell
T5 1430-1434 http://purl.obolibrary.org/obo/GO_0005623 denotes cell
T6 1544-1548 http://purl.obolibrary.org/obo/GO_0005623 denotes cell
T7 1657-1662 http://purl.obolibrary.org/obo/GO_0005623 denotes cells
T8 137-151 http://purl.obolibrary.org/obo/GO_0016234 denotes inclusion body
T9 173-187 http://purl.obolibrary.org/obo/GO_0016234 denotes inclusion body
T10 210-219 http://purl.obolibrary.org/obo/GO_0030849 denotes autosomal

EDAM-topics

Id Subject Object Predicate Lexical cue
T1 120-125 http://edamontology.org/topic_2815 denotes human
T2 269-278 http://edamontology.org/topic_0199 denotes mutations
T3 622-631 http://edamontology.org/topic_0199 denotes mutations
T4 721-730 http://edamontology.org/topic_0199 denotes mutations
T5 762-769 http://edamontology.org/topic_0199 denotes mutated
T6 837-850 http://edamontology.org/topic_3308 denotes transcription
T7 837-850 http://edamontology.org/topic_0110 denotes transcription
T8 837-850 http://edamontology.org/topic_0203 denotes transcription
T9 837-850 http://edamontology.org/topic_3512 denotes transcription
T10 851-862 http://edamontology.org/topic_0108 denotes translation
T11 1011-1020 http://edamontology.org/topic_0199 denotes mutations
T12 1203-1210 http://edamontology.org/topic_3678 denotes studies
T13 1268-1277 http://edamontology.org/topic_0199 denotes mutations
T14 1601-1608 http://edamontology.org/topic_0602 denotes pathway

EDAM-DFO

Id Subject Object Predicate Lexical cue
T1 751-757 http://edamontology.org/operation_3435 denotes normal
T2 837-862 http://edamontology.org/data_2769 denotes transcription-translation
T3 947-956 http://edamontology.org/operation_2428 denotes validated
T4 1218-1226 http://edamontology.org/data_1756 denotes residual
T5 1381-1389 http://edamontology.org/data_1756 denotes residual
T6 1601-1608 http://edamontology.org/data_2600 denotes pathway

NGLY1-deficiency

Id Subject Object Predicate Lexical cue
PD-NGLY1-deficiency-B_T1 43-62 chem:24139 denotes N-acetylglucosamine
PD-NGLY1-deficiency-B_T2 308-327 chem:24139 denotes N-acetylglucosamine
PD-NGLY1-deficiency-B_T3 329-335 chem:24139 denotes GlcNAc

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
15987957-1#167#186#gene5973 329-348 gene5973 denotes GlcNAc) 2-epimerase
15987957-1#188#191#gene10020 350-353 gene10020 denotes GNE
15987957-1#0#34#diseaseC1853926 162-196 diseaseC1853926 denotes Hereditary inclusion body myopathy
15987957-1#36#40#diseaseC1853926 198-202 diseaseC1853926 denotes HIBM
15987957-1#68#90#diseaseC0027868 230-252 diseaseC0027868 denotes neuromuscular disorder
15987957-2#24#27#gene10020 493-496 gene10020 denotes GNE
15987957-2#185#188#gene10020 654-657 gene10020 denotes GNE
15987957-2#129#133#diseaseC1853926 598-602 diseaseC1853926 denotes HIBM
167#186#gene59730#34#diseaseC1853926 15987957-1#167#186#gene5973 15987957-1#0#34#diseaseC1853926 associated_with GlcNAc) 2-epimerase,Hereditary inclusion body myopathy
167#186#gene597336#40#diseaseC1853926 15987957-1#167#186#gene5973 15987957-1#36#40#diseaseC1853926 associated_with GlcNAc) 2-epimerase,HIBM
167#186#gene597368#90#diseaseC0027868 15987957-1#167#186#gene5973 15987957-1#68#90#diseaseC0027868 associated_with GlcNAc) 2-epimerase,neuromuscular disorder
188#191#gene100200#34#diseaseC1853926 15987957-1#188#191#gene10020 15987957-1#0#34#diseaseC1853926 associated_with GNE,Hereditary inclusion body myopathy
188#191#gene1002036#40#diseaseC1853926 15987957-1#188#191#gene10020 15987957-1#36#40#diseaseC1853926 associated_with GNE,HIBM
188#191#gene1002068#90#diseaseC0027868 15987957-1#188#191#gene10020 15987957-1#68#90#diseaseC0027868 associated_with GNE,neuromuscular disorder
24#27#gene10020129#133#diseaseC1853926 15987957-2#24#27#gene10020 15987957-2#129#133#diseaseC1853926 associated_with GNE,HIBM
185#188#gene10020129#133#diseaseC1853926 15987957-2#185#188#gene10020 15987957-2#129#133#diseaseC1853926 associated_with GNE,HIBM

GlyTouCan-IUPAC

Id Subject Object Predicate Lexical cue
GlycanIUPAC_T1 329-335 "http://rdf.glycoinfo.org/glycan/G26693XF" denotes GlcNAc
GlycanIUPAC_T2 329-335 "http://rdf.glycoinfo.org/glycan/G01864SU" denotes GlcNAc
GlycanIUPAC_T3 329-335 "http://rdf.glycoinfo.org/glycan/G17605FD" denotes GlcNAc
GlycanIUPAC_T4 329-335 "http://rdf.glycoinfo.org/glycan/G41950LU" denotes GlcNAc
GlycanIUPAC_T5 329-335 "http://rdf.glycoinfo.org/glycan/G57195RJ" denotes GlcNAc
GlycanIUPAC_T6 329-335 "http://rdf.glycoinfo.org/glycan/G85391SA" denotes GlcNAc
GlycanIUPAC_T7 329-335 "http://rdf.glycoinfo.org/glycan/G89565QL" denotes GlcNAc
GlycanIUPAC_T8 329-335 "http://rdf.glycoinfo.org/glycan/G80869MR" denotes GlcNAc
GlycanIUPAC_T9 329-335 "http://rdf.glycoinfo.org/glycan/G55978NL" denotes GlcNAc
GlycanIUPAC_T10 329-335 "http://rdf.glycoinfo.org/glycan/G54644LT" denotes GlcNAc
GlycanIUPAC_T11 329-335 "http://rdf.glycoinfo.org/glycan/G25694UG" denotes GlcNAc
GlycanIUPAC_T12 329-335 "http://rdf.glycoinfo.org/glycan/G25126RB" denotes GlcNAc
GlycanIUPAC_T13 329-335 "http://rdf.glycoinfo.org/glycan/G51848AD" denotes GlcNAc
GlycanIUPAC_T14 329-335 "http://rdf.glycoinfo.org/glycan/G94667GM" denotes GlcNAc
GlycanIUPAC_T15 329-335 "http://rdf.glycoinfo.org/glycan/G30124BO" denotes GlcNAc
GlycanIUPAC_T16 329-335 "http://rdf.glycoinfo.org/glycan/G82777EZ" denotes GlcNAc
GlycanIUPAC_T17 329-335 "http://rdf.glycoinfo.org/glycan/G10151YZ" denotes GlcNAc
GlycanIUPAC_T18 329-335 "http://rdf.glycoinfo.org/glycan/G17585ZM" denotes GlcNAc
GlycanIUPAC_T19 329-335 "http://rdf.glycoinfo.org/glycan/G04411CJ" denotes GlcNAc
GlycanIUPAC_T20 329-335 "http://rdf.glycoinfo.org/glycan/G38254HJ" denotes GlcNAc
GlycanIUPAC_T21 329-335 "http://rdf.glycoinfo.org/glycan/G75188FS" denotes GlcNAc
GlycanIUPAC_T22 329-335 "http://rdf.glycoinfo.org/glycan/G70374VG" denotes GlcNAc
GlycanIUPAC_T23 329-335 "http://rdf.glycoinfo.org/glycan/G45176LJ" denotes GlcNAc
GlycanIUPAC_T24 329-335 "http://rdf.glycoinfo.org/glycan/G30874VW" denotes GlcNAc
GlycanIUPAC_T25 329-335 "http://rdf.glycoinfo.org/glycan/G69333MI" denotes GlcNAc
GlycanIUPAC_T26 329-335 "http://rdf.glycoinfo.org/glycan/G10676XO" denotes GlcNAc
GlycanIUPAC_T27 329-335 "http://rdf.glycoinfo.org/glycan/G14843DJ" denotes GlcNAc
GlycanIUPAC_T28 329-335 "http://rdf.glycoinfo.org/glycan/G47546FR" denotes GlcNAc
GlycanIUPAC_T29 329-335 "http://rdf.glycoinfo.org/glycan/G73695ZM" denotes GlcNAc
GlycanIUPAC_T30 329-335 "http://rdf.glycoinfo.org/glycan/G31923TJ" denotes GlcNAc
GlycanIUPAC_T31 329-335 "http://rdf.glycoinfo.org/glycan/G60519EP" denotes GlcNAc
GlycanIUPAC_T32 329-335 "http://rdf.glycoinfo.org/glycan/G07933IA" denotes GlcNAc
GlycanIUPAC_T33 329-335 "http://rdf.glycoinfo.org/glycan/G40745NH" denotes GlcNAc
GlycanIUPAC_T34 329-335 "http://rdf.glycoinfo.org/glycan/G54496YV" denotes GlcNAc
GlycanIUPAC_T35 329-335 "http://rdf.glycoinfo.org/glycan/G62953SQ" denotes GlcNAc
GlycanIUPAC_T36 329-335 "http://rdf.glycoinfo.org/glycan/G70070AY" denotes GlcNAc
GlycanIUPAC_T37 329-335 "http://rdf.glycoinfo.org/glycan/G78792WC" denotes GlcNAc
GlycanIUPAC_T38 329-335 "http://rdf.glycoinfo.org/glycan/G25238AV" denotes GlcNAc
GlycanIUPAC_T39 329-335 "http://rdf.glycoinfo.org/glycan/G40510DP" denotes GlcNAc
GlycanIUPAC_T40 329-335 "http://rdf.glycoinfo.org/glycan/G61120TK" denotes GlcNAc
GlycanIUPAC_T41 329-335 "http://rdf.glycoinfo.org/glycan/G41342KV" denotes GlcNAc
GlycanIUPAC_T42 329-335 "http://rdf.glycoinfo.org/glycan/G90703NA" denotes GlcNAc
GlycanIUPAC_T43 329-335 "http://rdf.glycoinfo.org/glycan/G01591HR" denotes GlcNAc
GlycanIUPAC_T44 329-335 "http://rdf.glycoinfo.org/glycan/G56520XN" denotes GlcNAc
GlycanIUPAC_T45 329-335 "http://rdf.glycoinfo.org/glycan/G81830JX" denotes GlcNAc
GlycanIUPAC_T46 376-382 "http://rdf.glycoinfo.org/glycan/G71873XS" denotes ManNAc
GlycanIUPAC_T47 376-382 "http://rdf.glycoinfo.org/glycan/G62824GF" denotes ManNAc
GlycanIUPAC_T48 376-382 "http://rdf.glycoinfo.org/glycan/G60830NU" denotes ManNAc
GlycanIUPAC_T49 376-382 "http://rdf.glycoinfo.org/glycan/G38885VS" denotes ManNAc

DisGeNET

Id Subject Object Predicate Lexical cue
T0 493-496 gene:10020 denotes GNE
T1 598-602 disease:C1853926 denotes HIBM
T2 654-657 gene:10020 denotes GNE
T3 598-602 disease:C1853926 denotes HIBM
R1 T0 T1 associated_with GNE,HIBM
R2 T2 T3 associated_with GNE,HIBM

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T1 126-160 Disease denotes hereditary inclusion body myopathy http://purl.obolibrary.org/obo/MONDO_0007827
T2 162-196 Disease denotes Hereditary inclusion body myopathy http://purl.obolibrary.org/obo/MONDO_0007827
T3 198-202 Disease denotes HIBM http://purl.obolibrary.org/obo/MONDO_0007827
T4 392-395 Disease denotes MNK http://purl.obolibrary.org/obo/MONDO_0010651
T5 501-504 Disease denotes MNK http://purl.obolibrary.org/obo/MONDO_0010651
T6 598-602 Disease denotes HIBM http://purl.obolibrary.org/obo/MONDO_0007827
T7 662-665 Disease denotes MNK http://purl.obolibrary.org/obo/MONDO_0010651
T8 774-777 Disease denotes MNK http://purl.obolibrary.org/obo/MONDO_0010651
T9 899-902 Disease denotes MNK http://purl.obolibrary.org/obo/MONDO_0010651
T10 974-977 Disease denotes MNK http://purl.obolibrary.org/obo/MONDO_0010651
T11 1082-1085 Disease denotes MNK http://purl.obolibrary.org/obo/MONDO_0010651
T12 1417-1420 Disease denotes MNK http://purl.obolibrary.org/obo/MONDO_0010651

HP-phenotype

Id Subject Object Predicate Lexical cue hp_id
T1 152-160 Phenotype denotes myopathy HP:0003198
T2 188-196 Phenotype denotes myopathy HP:0003198

NCBITAXON

Id Subject Object Predicate Lexical cue db_id
T1 120-125 OrganismTaxon denotes human 9606

Anatomy-UBERON

Id Subject Object Predicate Lexical cue uberon_id
T1 568-579 Body_part denotes fibroblasts http://purl.obolibrary.org/obo/CL_0000057
T2 1313-1324 Body_part denotes fibroblasts http://purl.obolibrary.org/obo/CL_0000057
T3 1352-1363 Body_part denotes Fibroblasts http://purl.obolibrary.org/obo/CL_0000057

CL-cell

Id Subject Object Predicate Lexical cue cl_id
T1 568-579 Cell denotes fibroblasts http://purl.obolibrary.org/obo/CL:0000057
T2 1313-1324 Cell denotes fibroblasts http://purl.obolibrary.org/obo/CL:0000057
T3 1352-1363 Cell denotes Fibroblasts http://purl.obolibrary.org/obo/CL:0000057