PubMed:15987957 / 162-468 JSONTXT

{"project":"Glycan-Motif","denotations":[{"id":"T2","span":{"begin":146,"end":165},"obj":"https://glytoucan.org/Structures/Glycans/G64581RP"},{"id":"T3","span":{"begin":281,"end":292},"obj":"https://glytoucan.org/Structures/Glycans/G81533KY"}],"text":"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."}

{"project":"GlyCosmos6-Glycan-Motif-Image","denotations":[{"id":"T2","span":{"begin":146,"end":165},"obj":"Glycan_Motif"},{"id":"T3","span":{"begin":281,"end":292},"obj":"Glycan_Motif"}],"attributes":[{"id":"A2","pred":"image","subj":"T2","obj":"https://api.glycosmos.org/wurcs2image/0.10.0/png/binary/G64581RP"},{"id":"A3","pred":"image","subj":"T3","obj":"https://api.glycosmos.org/wurcs2image/0.10.0/png/binary/G81533KY"}],"text":"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."}

{"project":"GlyCosmos6-Glycan-Motif-Structure","denotations":[{"id":"T2","span":{"begin":146,"end":165},"obj":"https://glytoucan.org/Structures/Glycans/G64581RP"},{"id":"T3","span":{"begin":281,"end":292},"obj":"https://glytoucan.org/Structures/Glycans/G81533KY"}],"text":"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."}

{"project":"sentences","denotations":[{"id":"TextSentencer_T2","span":{"begin":0,"end":306},"obj":"Sentence"},{"id":"T2","span":{"begin":0,"end":306},"obj":"Sentence"},{"id":"T2","span":{"begin":0,"end":306},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"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."}

{"project":"GlycoBiology-GDGDB","denotations":[{"id":"_T1","span":{"begin":188,"end":191},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00385"},{"id":"_T2","span":{"begin":188,"end":191},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00386"},{"id":"_T18","span":{"begin":0,"end":34},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00385"}],"text":"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."}

{"project":"ICD10","denotations":[{"id":"T2","span":{"begin":26,"end":34},"obj":"http://purl.bioontology.org/ontology/ICD10/G72.9"}],"text":"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."}

{"project":"uniprot-human","denotations":[{"id":"T3","span":{"begin":167,"end":186},"obj":"http://www.uniprot.org/uniprot/F5H499"},{"id":"T4","span":{"begin":188,"end":191},"obj":"http://www.uniprot.org/uniprot/F5H499"},{"id":"T12","span":{"begin":230,"end":233},"obj":"http://www.uniprot.org/uniprot/Q04656"}],"text":"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."}

{"project":"GlycoBiology-NCBITAXON","denotations":[{"id":"T1","span":{"begin":48,"end":57},"obj":"http://purl.bioontology.org/ontology/NCBITAXON/150701"}],"text":"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."}

{"project":"GO-BP","denotations":[{"id":"T4","span":{"begin":293,"end":305},"obj":"http://purl.obolibrary.org/obo/GO_0009058"}],"text":"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."}

{"project":"GO-CC","denotations":[{"id":"T9","span":{"begin":11,"end":25},"obj":"http://purl.obolibrary.org/obo/GO_0016234"},{"id":"T10","span":{"begin":48,"end":57},"obj":"http://purl.obolibrary.org/obo/GO_0030849"}],"text":"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."}

{"project":"EDAM-topics","denotations":[{"id":"T2","span":{"begin":107,"end":116},"obj":"http://edamontology.org/topic_0199"}],"text":"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."}

{"project":"NGLY1-deficiency","denotations":[{"id":"PD-NGLY1-deficiency-B_T2","span":{"begin":146,"end":165},"obj":"chem:24139"},{"id":"PD-NGLY1-deficiency-B_T3","span":{"begin":167,"end":173},"obj":"chem:24139"}],"namespaces":[{"prefix":"hgnc","uri":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:"},{"prefix":"omim","uri":"https://www.omim.org/entry/"},{"prefix":"chem","uri":"https://pubchem.ncbi.nlm.nih.gov/compound/"}],"text":"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."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"15987957-1#167#186#gene5973","span":{"begin":167,"end":186},"obj":"gene5973"},{"id":"15987957-1#188#191#gene10020","span":{"begin":188,"end":191},"obj":"gene10020"},{"id":"15987957-1#0#34#diseaseC1853926","span":{"begin":0,"end":34},"obj":"diseaseC1853926"},{"id":"15987957-1#36#40#diseaseC1853926","span":{"begin":36,"end":40},"obj":"diseaseC1853926"},{"id":"15987957-1#68#90#diseaseC0027868","span":{"begin":68,"end":90},"obj":"diseaseC0027868"}],"relations":[{"id":"167#186#gene59730#34#diseaseC1853926","pred":"associated_with","subj":"15987957-1#167#186#gene5973","obj":"15987957-1#0#34#diseaseC1853926"},{"id":"167#186#gene597336#40#diseaseC1853926","pred":"associated_with","subj":"15987957-1#167#186#gene5973","obj":"15987957-1#36#40#diseaseC1853926"},{"id":"167#186#gene597368#90#diseaseC0027868","pred":"associated_with","subj":"15987957-1#167#186#gene5973","obj":"15987957-1#68#90#diseaseC0027868"},{"id":"188#191#gene100200#34#diseaseC1853926","pred":"associated_with","subj":"15987957-1#188#191#gene10020","obj":"15987957-1#0#34#diseaseC1853926"},{"id":"188#191#gene1002036#40#diseaseC1853926","pred":"associated_with","subj":"15987957-1#188#191#gene10020","obj":"15987957-1#36#40#diseaseC1853926"},{"id":"188#191#gene1002068#90#diseaseC0027868","pred":"associated_with","subj":"15987957-1#188#191#gene10020","obj":"15987957-1#68#90#diseaseC0027868"}],"text":"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."}

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

{"project":"mondo_disease","denotations":[{"id":"T2","span":{"begin":0,"end":34},"obj":"Disease"},{"id":"T3","span":{"begin":36,"end":40},"obj":"Disease"},{"id":"T4","span":{"begin":230,"end":233},"obj":"Disease"}],"attributes":[{"id":"A2","pred":"mondo_id","subj":"T2","obj":"http://purl.obolibrary.org/obo/MONDO_0007827"},{"id":"A3","pred":"mondo_id","subj":"T3","obj":"http://purl.obolibrary.org/obo/MONDO_0007827"},{"id":"A4","pred":"mondo_id","subj":"T4","obj":"http://purl.obolibrary.org/obo/MONDO_0010651"}],"text":"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."}

{"project":"HP-phenotype","denotations":[{"id":"T2","span":{"begin":26,"end":34},"obj":"Phenotype"}],"attributes":[{"id":"A2","pred":"hp_id","subj":"T2","obj":"HP:0003198"}],"namespaces":[{"prefix":"HP","uri":"http://purl.obolibrary.org/obo/HP_"}],"text":"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."}