> top > docs > PubMed:21497194 > spans > 796-1109 > annotations

PubMed:21497194 / 796-1109 JSONTXT

Annnotations TAB JSON ListView MergeView

PubTator4TogoVar

Id Subject Object Predicate Lexical cue proteinmutation
21497194_0 233-239 ProteinMutation denotes p.R68W rs770638519
21497194_1 244-251 ProteinMutation denotes p.R109W rs770638519
21497194_2 296-303 ProteinMutation denotes p.R148C rs770638519

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T8 0-115 Sentence denotes One patient with juvenile GM1 gangliosidosis was homozygous for a mutation previously identified in Morquio type B.
TextSentencer_T9 116-313 Sentence denotes 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.
T8 0-115 Sentence denotes One patient with juvenile GM1 gangliosidosis was homozygous for a mutation previously identified in Morquio type B.
T9 116-313 Sentence denotes 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.

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
21497194-8#180#187#geners192732174 296-303 geners192732174 denotes p.R148C
21497194-8#128#135#geners35289681 244-251 geners35289681 denotes p.R109W
21497194-8#117#123#geners72555370 233-239 geners72555370 denotes p.R68W
21497194-8#15#43#diseaseC0268271 131-159 diseaseC0268271 denotes infantile GM1 gangliosidosis
180#187#geners19273217415#43#diseaseC0268271 21497194-8#180#187#geners192732174 21497194-8#15#43#diseaseC0268271 associated_with p.R148C,infantile GM1 gangliosidosis
128#135#geners3528968115#43#diseaseC0268271 21497194-8#128#135#geners35289681 21497194-8#15#43#diseaseC0268271 associated_with p.R109W,infantile GM1 gangliosidosis
117#123#geners7255537015#43#diseaseC0268271 21497194-8#117#123#geners72555370 21497194-8#15#43#diseaseC0268271 associated_with p.R68W,infantile GM1 gangliosidosis

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
21497194-8#62#66#gene2720 178-182 gene2720 denotes GLB1
21497194-8#15#43#diseaseC0268271 131-159 diseaseC0268271 denotes infantile GM1 gangliosidosis
62#66#gene272015#43#diseaseC0268271 21497194-8#62#66#gene2720 21497194-8#15#43#diseaseC0268271 associated_with GLB1,infantile GM1 gangliosidosis

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T8 17-44 Disease denotes juvenile GM1 gangliosidosis http://purl.obolibrary.org/obo/MONDO_0009261
T9 131-159 Disease denotes infantile GM1 gangliosidosis http://purl.obolibrary.org/obo/MONDO_0009260

Glycan-GlyCosmos

Id Subject Object Predicate Lexical cue image
T5 26-29 Glycan denotes GM1 https://api.glycosmos.org/wurcs2image/latest/png/binary/G48558GR
T6 141-144 Glycan denotes GM1 https://api.glycosmos.org/wurcs2image/latest/png/binary/G48558GR

GlyCosmos-GlycoEpitope

Id Subject Object Predicate Lexical cue glycoepitope_id
T5 26-29 http://purl.jp/bio/12/glyco/glycan#Glycan_epitope denotes GM1 http://www.glycoepitope.jp/epitopes/EP0050
T6 141-144 http://purl.jp/bio/12/glyco/glycan#Glycan_epitope denotes GM1 http://www.glycoepitope.jp/epitopes/EP0050

GlyCosmos15-MONDO

Id Subject Object Predicate Lexical cue mondo_id
T8 17-44 Disease denotes juvenile GM1 gangliosidosis http://purl.obolibrary.org/obo/MONDO_0009261
T9 131-159 Disease denotes infantile GM1 gangliosidosis http://purl.obolibrary.org/obo/MONDO_0009260

GlyCosmos15-NCBITAXON

Id Subject Object Predicate Lexical cue db_id
T2 4-11 OrganismTaxon denotes patient 9606
T3 118-125 OrganismTaxon denotes patient 9606

GlyCosmos15-UBERON

Id Subject Object Predicate Lexical cue uberon_id
T1 17-25 Body_part denotes juvenile http://purl.obolibrary.org/obo/UBERON_0007021

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T8 0-115 Sentence denotes One patient with juvenile GM1 gangliosidosis was homozygous for a mutation previously identified in Morquio type B.
TextSentencer_T9 116-313 Sentence denotes 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.
T8 0-115 Sentence denotes One patient with juvenile GM1 gangliosidosis was homozygous for a mutation previously identified in Morquio type B.
T9 116-313 Sentence denotes 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.

GlyCosmos15-Sentences

Id Subject Object Predicate Lexical cue
T8 0-313 Sentence denotes 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.

GlyCosmos15-Glycan

Id Subject Object Predicate Lexical cue image
T5 26-29 Glycan denotes GM1 https://api.glycosmos.org/wurcs2image/latest/png/binary/G48558GR
T6 141-144 Glycan denotes GM1 https://api.glycosmos.org/wurcs2image/latest/png/binary/G48558GR

GlyCosmos15-GlycoEpitope

Id Subject Object Predicate Lexical cue glycoepitope_id
T5 26-29 http://purl.jp/bio/12/glyco/glycan#Glycan_epitope denotes GM1 http://www.glycoepitope.jp/epitopes/EP0050
T6 141-144 http://purl.jp/bio/12/glyco/glycan#Glycan_epitope denotes GM1 http://www.glycoepitope.jp/epitopes/EP0050

NCBITAXON

Id Subject Object Predicate Lexical cue db_id
T2 4-11 OrganismTaxon denotes patient 9606
T3 118-125 OrganismTaxon denotes patient 9606

Anatomy-UBERON

Id Subject Object Predicate Lexical cue uberon_id
T1 17-25 Body_part denotes juvenile http://purl.obolibrary.org/obo/UBERON_0007021