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PubMed:15987957 / 162-468 JSONTXT

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Glycan-Motif

Id Subject Object Predicate Lexical cue
T2 146-165 https://glytoucan.org/Structures/Glycans/G64581RP denotes N-acetylglucosamine
T3 281-292 https://glytoucan.org/Structures/Glycans/G81533KY denotes sialic acid

GlyCosmos6-Glycan-Motif-Image

Id Subject Object Predicate Lexical cue image
T2 146-165 Glycan_Motif denotes N-acetylglucosamine https://api.glycosmos.org/wurcs2image/0.10.0/png/binary/G64581RP
T3 281-292 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
T2 146-165 https://glytoucan.org/Structures/Glycans/G64581RP denotes N-acetylglucosamine
T3 281-292 https://glytoucan.org/Structures/Glycans/G81533KY denotes sialic acid

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T2 0-306 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.
T2 0-306 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.
T2 0-306 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.

GlycoBiology-GDGDB

Id Subject Object Predicate Lexical cue
_T1 188-191 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00385 denotes GNE
_T2 188-191 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00386 denotes GNE
_T18 0-34 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00385 denotes Hereditary inclusion body myopathy

ICD10

Id Subject Object Predicate Lexical cue
T2 26-34 http://purl.bioontology.org/ontology/ICD10/G72.9 denotes myopathy

uniprot-human

Id Subject Object Predicate Lexical cue
T3 167-186 http://www.uniprot.org/uniprot/F5H499 denotes GlcNAc) 2-epimerase
T4 188-191 http://www.uniprot.org/uniprot/F5H499 denotes GNE
T12 230-233 http://www.uniprot.org/uniprot/Q04656 denotes MNK

GlycoBiology-NCBITAXON

Id Subject Object Predicate Lexical cue
T1 48-57 http://purl.bioontology.org/ontology/NCBITAXON/150701 denotes autosomal

GO-BP

Id Subject Object Predicate Lexical cue
T4 293-305 http://purl.obolibrary.org/obo/GO_0009058 denotes biosynthesis

GO-CC

Id Subject Object Predicate Lexical cue
T9 11-25 http://purl.obolibrary.org/obo/GO_0016234 denotes inclusion body
T10 48-57 http://purl.obolibrary.org/obo/GO_0030849 denotes autosomal

EDAM-topics

Id Subject Object Predicate Lexical cue
T2 107-116 http://edamontology.org/topic_0199 denotes mutations

NGLY1-deficiency

Id Subject Object Predicate Lexical cue
PD-NGLY1-deficiency-B_T2 146-165 chem:24139 denotes N-acetylglucosamine
PD-NGLY1-deficiency-B_T3 167-173 chem:24139 denotes GlcNAc

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
15987957-1#167#186#gene5973 167-186 gene5973 denotes GlcNAc) 2-epimerase
15987957-1#188#191#gene10020 188-191 gene10020 denotes GNE
15987957-1#0#34#diseaseC1853926 0-34 diseaseC1853926 denotes Hereditary inclusion body myopathy
15987957-1#36#40#diseaseC1853926 36-40 diseaseC1853926 denotes HIBM
15987957-1#68#90#diseaseC0027868 68-90 diseaseC0027868 denotes neuromuscular disorder
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

GlyTouCan-IUPAC

Id Subject Object Predicate Lexical cue
GlycanIUPAC_T1 167-173 "http://rdf.glycoinfo.org/glycan/G26693XF" denotes GlcNAc
GlycanIUPAC_T2 167-173 "http://rdf.glycoinfo.org/glycan/G01864SU" denotes GlcNAc
GlycanIUPAC_T3 167-173 "http://rdf.glycoinfo.org/glycan/G17605FD" denotes GlcNAc
GlycanIUPAC_T4 167-173 "http://rdf.glycoinfo.org/glycan/G41950LU" denotes GlcNAc
GlycanIUPAC_T5 167-173 "http://rdf.glycoinfo.org/glycan/G57195RJ" denotes GlcNAc
GlycanIUPAC_T6 167-173 "http://rdf.glycoinfo.org/glycan/G85391SA" denotes GlcNAc
GlycanIUPAC_T7 167-173 "http://rdf.glycoinfo.org/glycan/G89565QL" denotes GlcNAc
GlycanIUPAC_T8 167-173 "http://rdf.glycoinfo.org/glycan/G80869MR" denotes GlcNAc
GlycanIUPAC_T9 167-173 "http://rdf.glycoinfo.org/glycan/G55978NL" denotes GlcNAc
GlycanIUPAC_T10 167-173 "http://rdf.glycoinfo.org/glycan/G54644LT" denotes GlcNAc
GlycanIUPAC_T11 167-173 "http://rdf.glycoinfo.org/glycan/G25694UG" denotes GlcNAc
GlycanIUPAC_T12 167-173 "http://rdf.glycoinfo.org/glycan/G25126RB" denotes GlcNAc
GlycanIUPAC_T13 167-173 "http://rdf.glycoinfo.org/glycan/G51848AD" denotes GlcNAc
GlycanIUPAC_T14 167-173 "http://rdf.glycoinfo.org/glycan/G94667GM" denotes GlcNAc
GlycanIUPAC_T15 167-173 "http://rdf.glycoinfo.org/glycan/G30124BO" denotes GlcNAc
GlycanIUPAC_T16 167-173 "http://rdf.glycoinfo.org/glycan/G82777EZ" denotes GlcNAc
GlycanIUPAC_T17 167-173 "http://rdf.glycoinfo.org/glycan/G10151YZ" denotes GlcNAc
GlycanIUPAC_T18 167-173 "http://rdf.glycoinfo.org/glycan/G17585ZM" denotes GlcNAc
GlycanIUPAC_T19 167-173 "http://rdf.glycoinfo.org/glycan/G04411CJ" denotes GlcNAc
GlycanIUPAC_T20 167-173 "http://rdf.glycoinfo.org/glycan/G38254HJ" denotes GlcNAc
GlycanIUPAC_T21 167-173 "http://rdf.glycoinfo.org/glycan/G75188FS" denotes GlcNAc
GlycanIUPAC_T22 167-173 "http://rdf.glycoinfo.org/glycan/G70374VG" denotes GlcNAc
GlycanIUPAC_T23 167-173 "http://rdf.glycoinfo.org/glycan/G45176LJ" denotes GlcNAc
GlycanIUPAC_T24 167-173 "http://rdf.glycoinfo.org/glycan/G30874VW" denotes GlcNAc
GlycanIUPAC_T25 167-173 "http://rdf.glycoinfo.org/glycan/G69333MI" denotes GlcNAc
GlycanIUPAC_T26 167-173 "http://rdf.glycoinfo.org/glycan/G10676XO" denotes GlcNAc
GlycanIUPAC_T27 167-173 "http://rdf.glycoinfo.org/glycan/G14843DJ" denotes GlcNAc
GlycanIUPAC_T28 167-173 "http://rdf.glycoinfo.org/glycan/G47546FR" denotes GlcNAc
GlycanIUPAC_T29 167-173 "http://rdf.glycoinfo.org/glycan/G73695ZM" denotes GlcNAc
GlycanIUPAC_T30 167-173 "http://rdf.glycoinfo.org/glycan/G31923TJ" denotes GlcNAc
GlycanIUPAC_T31 167-173 "http://rdf.glycoinfo.org/glycan/G60519EP" denotes GlcNAc
GlycanIUPAC_T32 167-173 "http://rdf.glycoinfo.org/glycan/G07933IA" denotes GlcNAc
GlycanIUPAC_T33 167-173 "http://rdf.glycoinfo.org/glycan/G40745NH" denotes GlcNAc
GlycanIUPAC_T34 167-173 "http://rdf.glycoinfo.org/glycan/G54496YV" denotes GlcNAc
GlycanIUPAC_T35 167-173 "http://rdf.glycoinfo.org/glycan/G62953SQ" denotes GlcNAc
GlycanIUPAC_T36 167-173 "http://rdf.glycoinfo.org/glycan/G70070AY" denotes GlcNAc
GlycanIUPAC_T37 167-173 "http://rdf.glycoinfo.org/glycan/G78792WC" denotes GlcNAc
GlycanIUPAC_T38 167-173 "http://rdf.glycoinfo.org/glycan/G25238AV" denotes GlcNAc
GlycanIUPAC_T39 167-173 "http://rdf.glycoinfo.org/glycan/G40510DP" denotes GlcNAc
GlycanIUPAC_T40 167-173 "http://rdf.glycoinfo.org/glycan/G61120TK" denotes GlcNAc
GlycanIUPAC_T41 167-173 "http://rdf.glycoinfo.org/glycan/G41342KV" denotes GlcNAc
GlycanIUPAC_T42 167-173 "http://rdf.glycoinfo.org/glycan/G90703NA" denotes GlcNAc
GlycanIUPAC_T43 167-173 "http://rdf.glycoinfo.org/glycan/G01591HR" denotes GlcNAc
GlycanIUPAC_T44 167-173 "http://rdf.glycoinfo.org/glycan/G56520XN" denotes GlcNAc
GlycanIUPAC_T45 167-173 "http://rdf.glycoinfo.org/glycan/G81830JX" denotes GlcNAc
GlycanIUPAC_T46 214-220 "http://rdf.glycoinfo.org/glycan/G71873XS" denotes ManNAc
GlycanIUPAC_T47 214-220 "http://rdf.glycoinfo.org/glycan/G62824GF" denotes ManNAc
GlycanIUPAC_T48 214-220 "http://rdf.glycoinfo.org/glycan/G60830NU" denotes ManNAc
GlycanIUPAC_T49 214-220 "http://rdf.glycoinfo.org/glycan/G38885VS" denotes ManNAc

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T2 0-34 Disease denotes Hereditary inclusion body myopathy http://purl.obolibrary.org/obo/MONDO_0007827
T3 36-40 Disease denotes HIBM http://purl.obolibrary.org/obo/MONDO_0007827
T4 230-233 Disease denotes MNK http://purl.obolibrary.org/obo/MONDO_0010651

HP-phenotype

Id Subject Object Predicate Lexical cue hp_id
T2 26-34 Phenotype denotes myopathy HP:0003198