PubMed:15987957 / 162-468
Annnotations
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 |