PubMed:21497194 / 796-1109 JSONTXT

{"project":"PubTator4TogoVar","denotations":[{"id":"21497194_0","span":{"begin":233,"end":239},"obj":"ProteinMutation"},{"id":"21497194_1","span":{"begin":244,"end":251},"obj":"ProteinMutation"},{"id":"21497194_2","span":{"begin":296,"end":303},"obj":"ProteinMutation"}],"attributes":[{"id":"21497194_0_ProteinMutation","pred":"proteinmutation","subj":"21497194_0","obj":"rs770638519"},{"id":"21497194_1_ProteinMutation","pred":"proteinmutation","subj":"21497194_1","obj":"rs770638519"},{"id":"21497194_2_ProteinMutation","pred":"proteinmutation","subj":"21497194_2","obj":"rs770638519"}],"text":"One patient with juvenile GM1 gangliosidosis was homozygous for a mutation previously identified in Morquio type B. A patient with infantile GM1 gangliosidosis carried a complex GLB1 allele harbouring two genetic variants leading to p.R68W and p.R109W amino acid changes, in trans with the known p.R148C mutation."}

{"project":"sentences","denotations":[{"id":"TextSentencer_T8","span":{"begin":0,"end":115},"obj":"Sentence"},{"id":"TextSentencer_T9","span":{"begin":116,"end":313},"obj":"Sentence"},{"id":"T8","span":{"begin":0,"end":115},"obj":"Sentence"},{"id":"T9","span":{"begin":116,"end":313},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"One patient with juvenile GM1 gangliosidosis was homozygous for a mutation previously identified in Morquio type B. A patient with infantile GM1 gangliosidosis carried a complex GLB1 allele harbouring two genetic variants leading to p.R68W and p.R109W amino acid changes, in trans with the known p.R148C mutation."}

{"project":"DisGeNET5_variant_disease","denotations":[{"id":"21497194-8#180#187#geners192732174","span":{"begin":296,"end":303},"obj":"geners192732174"},{"id":"21497194-8#128#135#geners35289681","span":{"begin":244,"end":251},"obj":"geners35289681"},{"id":"21497194-8#117#123#geners72555370","span":{"begin":233,"end":239},"obj":"geners72555370"},{"id":"21497194-8#15#43#diseaseC0268271","span":{"begin":131,"end":159},"obj":"diseaseC0268271"}],"relations":[{"id":"180#187#geners19273217415#43#diseaseC0268271","pred":"associated_with","subj":"21497194-8#180#187#geners192732174","obj":"21497194-8#15#43#diseaseC0268271"},{"id":"128#135#geners3528968115#43#diseaseC0268271","pred":"associated_with","subj":"21497194-8#128#135#geners35289681","obj":"21497194-8#15#43#diseaseC0268271"},{"id":"117#123#geners7255537015#43#diseaseC0268271","pred":"associated_with","subj":"21497194-8#117#123#geners72555370","obj":"21497194-8#15#43#diseaseC0268271"}],"text":"One patient with juvenile GM1 gangliosidosis was homozygous for a mutation previously identified in Morquio type B. A patient with infantile GM1 gangliosidosis carried a complex GLB1 allele harbouring two genetic variants leading to p.R68W and p.R109W amino acid changes, in trans with the known p.R148C mutation."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"21497194-8#62#66#gene2720","span":{"begin":178,"end":182},"obj":"gene2720"},{"id":"21497194-8#15#43#diseaseC0268271","span":{"begin":131,"end":159},"obj":"diseaseC0268271"}],"relations":[{"id":"62#66#gene272015#43#diseaseC0268271","pred":"associated_with","subj":"21497194-8#62#66#gene2720","obj":"21497194-8#15#43#diseaseC0268271"}],"text":"One patient with juvenile GM1 gangliosidosis was homozygous for a mutation previously identified in Morquio type B. A patient with infantile GM1 gangliosidosis carried a complex GLB1 allele harbouring two genetic variants leading to p.R68W and p.R109W amino acid changes, in trans with the known p.R148C mutation."}

{"project":"mondo_disease","denotations":[{"id":"T8","span":{"begin":17,"end":44},"obj":"Disease"},{"id":"T9","span":{"begin":131,"end":159},"obj":"Disease"}],"attributes":[{"id":"A8","pred":"mondo_id","subj":"T8","obj":"http://purl.obolibrary.org/obo/MONDO_0009261"},{"id":"A9","pred":"mondo_id","subj":"T9","obj":"http://purl.obolibrary.org/obo/MONDO_0009260"}],"text":"One patient with juvenile GM1 gangliosidosis was homozygous for a mutation previously identified in Morquio type B. A patient with infantile GM1 gangliosidosis carried a complex GLB1 allele harbouring two genetic variants leading to p.R68W and p.R109W amino acid changes, in trans with the known p.R148C mutation."}

{"project":"Glycan-GlyCosmos","denotations":[{"id":"T5","span":{"begin":26,"end":29},"obj":"Glycan"},{"id":"T6","span":{"begin":141,"end":144},"obj":"Glycan"}],"attributes":[{"id":"A5","pred":"glycosmos_id","subj":"T5","obj":"https://glycosmos.org/glycans/show/G48558GR"},{"id":"A12","pred":"image","subj":"T5","obj":"https://api.glycosmos.org/wurcs2image/latest/png/binary/G48558GR"},{"id":"A6","pred":"glycosmos_id","subj":"T6","obj":"https://glycosmos.org/glycans/show/G48558GR"},{"id":"A13","pred":"image","subj":"T6","obj":"https://api.glycosmos.org/wurcs2image/latest/png/binary/G48558GR"}],"text":"One patient with juvenile GM1 gangliosidosis was homozygous for a mutation previously identified in Morquio type B. A patient with infantile GM1 gangliosidosis carried a complex GLB1 allele harbouring two genetic variants leading to p.R68W and p.R109W amino acid changes, in trans with the known p.R148C mutation."}

{"project":"GlyCosmos-GlycoEpitope","denotations":[{"id":"T5","span":{"begin":26,"end":29},"obj":"http://purl.jp/bio/12/glyco/glycan#Glycan_epitope"},{"id":"T6","span":{"begin":141,"end":144},"obj":"http://purl.jp/bio/12/glyco/glycan#Glycan_epitope"}],"attributes":[{"id":"A5","pred":"glycoepitope_id","subj":"T5","obj":"http://www.glycoepitope.jp/epitopes/EP0050"},{"id":"A6","pred":"glycoepitope_id","subj":"T6","obj":"http://www.glycoepitope.jp/epitopes/EP0050"}],"text":"One patient with juvenile GM1 gangliosidosis was homozygous for a mutation previously identified in Morquio type B. A patient with infantile GM1 gangliosidosis carried a complex GLB1 allele harbouring two genetic variants leading to p.R68W and p.R109W amino acid changes, in trans with the known p.R148C mutation."}

{"project":"GlyCosmos15-MONDO","denotations":[{"id":"T8","span":{"begin":17,"end":44},"obj":"Disease"},{"id":"T9","span":{"begin":131,"end":159},"obj":"Disease"}],"attributes":[{"id":"A8","pred":"mondo_id","subj":"T8","obj":"http://purl.obolibrary.org/obo/MONDO_0009261"},{"id":"A9","pred":"mondo_id","subj":"T9","obj":"http://purl.obolibrary.org/obo/MONDO_0009260"}],"text":"One patient with juvenile GM1 gangliosidosis was homozygous for a mutation previously identified in Morquio type B. A patient with infantile GM1 gangliosidosis carried a complex GLB1 allele harbouring two genetic variants leading to p.R68W and p.R109W amino acid changes, in trans with the known p.R148C mutation."}

{"project":"GlyCosmos15-NCBITAXON","denotations":[{"id":"T2","span":{"begin":4,"end":11},"obj":"OrganismTaxon"},{"id":"T3","span":{"begin":118,"end":125},"obj":"OrganismTaxon"}],"attributes":[{"id":"A2","pred":"db_id","subj":"T2","obj":"9606"},{"id":"A3","pred":"db_id","subj":"T3","obj":"9606"}],"text":"One patient with juvenile GM1 gangliosidosis was homozygous for a mutation previously identified in Morquio type B. A patient with infantile GM1 gangliosidosis carried a complex GLB1 allele harbouring two genetic variants leading to p.R68W and p.R109W amino acid changes, in trans with the known p.R148C mutation."}

{"project":"GlyCosmos15-UBERON","denotations":[{"id":"T1","span":{"begin":17,"end":25},"obj":"Body_part"}],"attributes":[{"id":"A1","pred":"uberon_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/UBERON_0007021"}],"text":"One patient with juvenile GM1 gangliosidosis was homozygous for a mutation previously identified in Morquio type B. A patient with infantile GM1 gangliosidosis carried a complex GLB1 allele harbouring two genetic variants leading to p.R68W and p.R109W amino acid changes, in trans with the known p.R148C mutation."}

{"project":"sentences","denotations":[{"id":"TextSentencer_T8","span":{"begin":0,"end":115},"obj":"Sentence"},{"id":"TextSentencer_T9","span":{"begin":116,"end":313},"obj":"Sentence"},{"id":"T8","span":{"begin":0,"end":115},"obj":"Sentence"},{"id":"T9","span":{"begin":116,"end":313},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"One patient with juvenile GM1 gangliosidosis was homozygous for a mutation previously identified in Morquio type B. A patient with infantile GM1 gangliosidosis carried a complex GLB1 allele harbouring two genetic variants leading to p.R68W and p.R109W amino acid changes, in trans with the known p.R148C mutation."}

{"project":"GlyCosmos15-Sentences","blocks":[{"id":"T8","span":{"begin":0,"end":313},"obj":"Sentence"}],"text":"One patient with juvenile GM1 gangliosidosis was homozygous for a mutation previously identified in Morquio type B. A patient with infantile GM1 gangliosidosis carried a complex GLB1 allele harbouring two genetic variants leading to p.R68W and p.R109W amino acid changes, in trans with the known p.R148C mutation."}

{"project":"GlyCosmos15-Glycan","denotations":[{"id":"T5","span":{"begin":26,"end":29},"obj":"Glycan"},{"id":"T6","span":{"begin":141,"end":144},"obj":"Glycan"}],"attributes":[{"id":"A5","pred":"glycosmos_id","subj":"T5","obj":"https://glycosmos.org/glycans/show/G48558GR"},{"id":"A12","pred":"image","subj":"T5","obj":"https://api.glycosmos.org/wurcs2image/latest/png/binary/G48558GR"},{"id":"A6","pred":"glycosmos_id","subj":"T6","obj":"https://glycosmos.org/glycans/show/G48558GR"},{"id":"A13","pred":"image","subj":"T6","obj":"https://api.glycosmos.org/wurcs2image/latest/png/binary/G48558GR"}],"text":"One patient with juvenile GM1 gangliosidosis was homozygous for a mutation previously identified in Morquio type B. A patient with infantile GM1 gangliosidosis carried a complex GLB1 allele harbouring two genetic variants leading to p.R68W and p.R109W amino acid changes, in trans with the known p.R148C mutation."}

{"project":"GlyCosmos15-GlycoEpitope","denotations":[{"id":"T5","span":{"begin":26,"end":29},"obj":"http://purl.jp/bio/12/glyco/glycan#Glycan_epitope"},{"id":"T6","span":{"begin":141,"end":144},"obj":"http://purl.jp/bio/12/glyco/glycan#Glycan_epitope"}],"attributes":[{"id":"A5","pred":"glycoepitope_id","subj":"T5","obj":"http://www.glycoepitope.jp/epitopes/EP0050"},{"id":"A6","pred":"glycoepitope_id","subj":"T6","obj":"http://www.glycoepitope.jp/epitopes/EP0050"}],"text":"One patient with juvenile GM1 gangliosidosis was homozygous for a mutation previously identified in Morquio type B. A patient with infantile GM1 gangliosidosis carried a complex GLB1 allele harbouring two genetic variants leading to p.R68W and p.R109W amino acid changes, in trans with the known p.R148C mutation."}

{"project":"NCBITAXON","denotations":[{"id":"T2","span":{"begin":4,"end":11},"obj":"OrganismTaxon"},{"id":"T3","span":{"begin":118,"end":125},"obj":"OrganismTaxon"}],"attributes":[{"id":"A2","pred":"db_id","subj":"T2","obj":"9606"},{"id":"A3","pred":"db_id","subj":"T3","obj":"9606"}],"text":"One patient with juvenile GM1 gangliosidosis was homozygous for a mutation previously identified in Morquio type B. A patient with infantile GM1 gangliosidosis carried a complex GLB1 allele harbouring two genetic variants leading to p.R68W and p.R109W amino acid changes, in trans with the known p.R148C mutation."}

{"project":"Anatomy-UBERON","denotations":[{"id":"T1","span":{"begin":17,"end":25},"obj":"Body_part"}],"attributes":[{"id":"A1","pred":"uberon_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/UBERON_0007021"}],"text":"One patient with juvenile GM1 gangliosidosis was homozygous for a mutation previously identified in Morquio type B. A patient with infantile GM1 gangliosidosis carried a complex GLB1 allele harbouring two genetic variants leading to p.R68W and p.R109W amino acid changes, in trans with the known p.R148C mutation."}