PubMed:14707127 / 0-149
Annnotations
GlyCosmos6-Glycan-Motif-Image
{"project":"GlyCosmos6-Glycan-Motif-Image","denotations":[{"id":"T1","span":{"begin":17,"end":36},"obj":"Glycan_Motif"}],"attributes":[{"id":"A1","pred":"image","subj":"T1","obj":"https://api.glycosmos.org/wurcs2image/0.10.0/png/binary/G64581RP"}],"text":"Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles.\nDistal "}
sentences
{"project":"sentences","denotations":[{"id":"T1","span":{"begin":0,"end":141},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles.\nDistal "}
GlyCosmos6-Glycan-Motif-Structure
{"project":"GlyCosmos6-Glycan-Motif-Structure","denotations":[{"id":"T1","span":{"begin":17,"end":36},"obj":"https://glytoucan.org/Structures/Glycans/G64581RP"}],"text":"Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles.\nDistal "}
NGLY1-deficiency
{"project":"NGLY1-deficiency","denotations":[{"id":"PD-NGLY1-deficiency-B_T1","span":{"begin":17,"end":36},"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":"Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles.\nDistal "}
DisGeNET5_gene_disease
{"project":"DisGeNET5_gene_disease","denotations":[{"id":"14707127-0#13#75#gene10020","span":{"begin":13,"end":75},"obj":"gene10020"},{"id":"14707127-0#104#140#diseaseC1853926","span":{"begin":104,"end":140},"obj":"diseaseC1853926"}],"relations":[{"id":"13#75#gene10020104#140#diseaseC1853926","pred":"associated_with","subj":"14707127-0#13#75#gene10020","obj":"14707127-0#104#140#diseaseC1853926"}],"text":"Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles.\nDistal "}
DisGeNET
{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":13,"end":75},"obj":"gene:10020"},{"id":"T1","span":{"begin":104,"end":140},"obj":"disease:C1853926"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles.\nDistal "}
HP-phenotype
{"project":"HP-phenotype","denotations":[{"id":"T1","span":{"begin":111,"end":119},"obj":"Phenotype"},{"id":"T2","span":{"begin":125,"end":140},"obj":"Phenotype"}],"attributes":[{"id":"A1","pred":"hp_id","subj":"T1","obj":"HP:0003198"},{"id":"A2","pred":"hp_id","subj":"T2","obj":"HP:0003805"}],"namespaces":[{"prefix":"HP","uri":"http://purl.obolibrary.org/obo/HP_"}],"text":"Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles.\nDistal "}
mondo_disease
{"project":"mondo_disease","denotations":[{"id":"T1","span":{"begin":104,"end":140},"obj":"Disease"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/MONDO_0007827"},{"id":"A2","pred":"mondo_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/MONDO_0011603"}],"text":"Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles.\nDistal "}
GlyCosmos15-HP
{"project":"GlyCosmos15-HP","denotations":[{"id":"T1","span":{"begin":111,"end":119},"obj":"Phenotype"},{"id":"T2","span":{"begin":125,"end":140},"obj":"Phenotype"}],"attributes":[{"id":"A1","pred":"hp_id","subj":"T1","obj":"HP:0003198"},{"id":"A2","pred":"hp_id","subj":"T2","obj":"HP:0003805"}],"text":"Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles.\nDistal "}
GlyCosmos15-MONDO
{"project":"GlyCosmos15-MONDO","denotations":[{"id":"T1","span":{"begin":104,"end":140},"obj":"Disease"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/MONDO_0007827"},{"id":"A2","pred":"mondo_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/MONDO_0011603"}],"text":"Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles.\nDistal "}
sentences
{"project":"sentences","denotations":[{"id":"T1","span":{"begin":0,"end":141},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles.\nDistal "}
GlyCosmos15-Sentences
{"project":"GlyCosmos15-Sentences","blocks":[{"id":"T1","span":{"begin":0,"end":141},"obj":"Sentence"}],"text":"Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles.\nDistal "}
Lectin-Jamboree-Sentence
{"project":"Lectin-Jamboree-Sentence","blocks":[{"id":"T1","span":{"begin":0,"end":141},"obj":"Sentence"}],"text":"Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles.\nDistal "}