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PubMed:14707127 / 330-586 JSONTXT

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GlyCosmos6-Glycan-Motif-Image

Id Subject Object Predicate Lexical cue image
T2 244-255 Glycan_Motif denotes sialic acid https://api.glycosmos.org/wurcs2image/0.10.0/png/binary/G81533KY

sentences

Id Subject Object Predicate Lexical cue
T3 0-256 Sentence denotes In a Japanese patient with distal myopathy with rimmed vacuoles, we identified pathogenic mutations in the gene encoding the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase, which catalyzes the initial two steps in the biosynthesis of sialic acid.

GlyCosmos6-Glycan-Motif-Structure

Id Subject Object Predicate Lexical cue
T2 244-255 https://glytoucan.org/Structures/Glycans/G81533KY denotes sialic acid

PubmedHPO

Id Subject Object Predicate Lexical cue
T4 34-42 HP_0003198 denotes myopathy
T5 48-63 HP_0003805 denotes rimmed vacuoles

NGLY1-deficiency

Id Subject Object Predicate Lexical cue
PD-NGLY1-deficiency-B_T2 149-155 chem:24139 denotes GlcNAc

HP-phenotype

Id Subject Object Predicate Lexical cue hp_id
T5 34-42 Phenotype denotes myopathy HP:0003198
T6 48-63 Phenotype denotes rimmed vacuoles HP:0003805

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T5 27-63 Disease denotes distal myopathy with rimmed vacuoles http://purl.obolibrary.org/obo/MONDO_0007827|http://purl.obolibrary.org/obo/MONDO_0011603

GlyCosmos15-HP

Id Subject Object Predicate Lexical cue hp_id
T5 34-42 Phenotype denotes myopathy HP:0003198
T6 48-63 Phenotype denotes rimmed vacuoles HP:0003805

GlyCosmos15-MONDO

Id Subject Object Predicate Lexical cue mondo_id
T5 27-63 Disease denotes distal myopathy with rimmed vacuoles http://purl.obolibrary.org/obo/MONDO_0007827|http://purl.obolibrary.org/obo/MONDO_0011603

GlyCosmos15-NCBITAXON

Id Subject Object Predicate Lexical cue db_id
T1 14-21 OrganismTaxon denotes patient 9606

sentences

Id Subject Object Predicate Lexical cue
T3 0-256 Sentence denotes In a Japanese patient with distal myopathy with rimmed vacuoles, we identified pathogenic mutations in the gene encoding the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase, which catalyzes the initial two steps in the biosynthesis of sialic acid.

GlyCosmos15-Sentences

Id Subject Object Predicate Lexical cue
T3 0-256 Sentence denotes In a Japanese patient with distal myopathy with rimmed vacuoles, we identified pathogenic mutations in the gene encoding the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase, which catalyzes the initial two steps in the biosynthesis of sialic acid.

Lectin-Jamboree-Sentence

Id Subject Object Predicate Lexical cue
T3 0-256 Sentence denotes In a Japanese patient with distal myopathy with rimmed vacuoles, we identified pathogenic mutations in the gene encoding the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase, which catalyzes the initial two steps in the biosynthesis of sialic acid.

NCBITAXON

Id Subject Object Predicate Lexical cue db_id
T1 14-21 OrganismTaxon denotes patient 9606