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PubMed:21497194 JSONTXT

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PubTator4TogoVar

Id Subject Object Predicate Lexical cue proteinmutation
21497194_0 1029-1035 ProteinMutation denotes p.R68W rs770638519
21497194_1 1040-1047 ProteinMutation denotes p.R109W rs770638519
21497194_2 1092-1099 ProteinMutation denotes p.R148C rs770638519
21497194_3 1467-1473 ProteinMutation denotes R68W a rs770638519
21497194_4 1478-1485 ProteinMutation denotes R109W a rs770638519

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-97 Sentence denotes GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.
TextSentencer_T2 98-307 Sentence denotes GM1 gangliosidosis and Morquio B syndrome, both arising from beta-galactosidase (GLB1) deficiency, are very rare lysosomal storage diseases with an incidence of about 1:100,000-1:200,000 live births worldwide.
TextSentencer_T3 308-475 Sentence denotes Here we report the beta-galactosidase gene (GLB1) mutation analysis of 21 unrelated GM1 gangliosidosis patients, and of 4 Morquio B patients, of whom two are brothers.
TextSentencer_T4 476-563 Sentence denotes Clinical features of the patients were collected and compared with those in literature.
TextSentencer_T5 564-687 Sentence denotes In silico analyses were performed by standard alignments tools and by an improved version of GLB1 three-dimensional models.
TextSentencer_T6 688-734 Sentence denotes The analysed cohort includes remarkable cases.
TextSentencer_T7 735-795 Sentence denotes One patient with GM1 gangliosidosis had a triple X syndrome.
TextSentencer_T8 796-911 Sentence denotes One patient with juvenile GM1 gangliosidosis was homozygous for a mutation previously identified in Morquio type B.
TextSentencer_T9 912-1109 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.
TextSentencer_T10 1110-1169 Sentence denotes Molecular analysis showed 27 mutations, 9 of which are new:
TextSentencer_T11 1170-1223 Sentence denotes 5 missense, 3 microdeletions and a nonsense mutation.
TextSentencer_T12 1224-1357 Sentence denotes We also identified four new genetic variants with a predicted polymorphic nature that was further investigated by in silico analyses.
TextSentencer_T13 1358-1656 Sentence denotes Three-dimensional structural analysis of GLB1 homology models including the new missense mutations and the p.R68W and p.R109W amino acid changes showed that all the amino acid replacements affected the resulting protein structures in different ways, from changes in polarity to folding alterations.
TextSentencer_T14 1657-1807 Sentence denotes Genetic and clinical associations led us to undertake a critical review of the classifications of late-onset GM1 gangliosidosis and Morquio B disease.
T1 0-97 Sentence denotes GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.
T2 98-307 Sentence denotes GM1 gangliosidosis and Morquio B syndrome, both arising from beta-galactosidase (GLB1) deficiency, are very rare lysosomal storage diseases with an incidence of about 1:100,000-1:200,000 live births worldwide.
T3 308-475 Sentence denotes Here we report the beta-galactosidase gene (GLB1) mutation analysis of 21 unrelated GM1 gangliosidosis patients, and of 4 Morquio B patients, of whom two are brothers.
T4 476-563 Sentence denotes Clinical features of the patients were collected and compared with those in literature.
T5 564-687 Sentence denotes In silico analyses were performed by standard alignments tools and by an improved version of GLB1 three-dimensional models.
T6 688-734 Sentence denotes The analysed cohort includes remarkable cases.
T7 735-795 Sentence denotes One patient with GM1 gangliosidosis had a triple X syndrome.
T8 796-911 Sentence denotes One patient with juvenile GM1 gangliosidosis was homozygous for a mutation previously identified in Morquio type B.
T9 912-1109 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.
T10 1110-1169 Sentence denotes Molecular analysis showed 27 mutations, 9 of which are new:
T11 1170-1223 Sentence denotes 5 missense, 3 microdeletions and a nonsense mutation.
T12 1224-1357 Sentence denotes We also identified four new genetic variants with a predicted polymorphic nature that was further investigated by in silico analyses.
T13 1358-1656 Sentence denotes Three-dimensional structural analysis of GLB1 homology models including the new missense mutations and the p.R68W and p.R109W amino acid changes showed that all the amino acid replacements affected the resulting protein structures in different ways, from changes in polarity to folding alterations.
T14 1657-1807 Sentence denotes Genetic and clinical associations led us to undertake a critical review of the classifications of late-onset GM1 gangliosidosis and Morquio B disease.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 159-177 gene:2720 denotes beta-galactosidase
T1 121-139 disease:C0086652 denotes Morquio B syndrome
T2 159-177 gene:2720 denotes beta-galactosidase
T3 179-195 disease:C0268271 denotes GLB1) deficiency
T4 159-177 gene:2720 denotes beta-galactosidase
T5 179-195 disease:C2718068 denotes GLB1) deficiency
R1 T0 T1 associated_with beta-galactosidase,Morquio B syndrome
R2 T2 T3 associated_with beta-galactosidase,GLB1) deficiency
R3 T4 T5 associated_with beta-galactosidase,GLB1) deficiency

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
21497194-8#180#187#geners192732174 1092-1099 geners192732174 denotes p.R148C
21497194-8#128#135#geners35289681 1040-1047 geners35289681 denotes p.R109W
21497194-8#117#123#geners72555370 1029-1035 geners72555370 denotes p.R68W
21497194-8#15#43#diseaseC0268271 927-955 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
21497194-1#61#79#gene2720 159-177 gene2720 denotes beta-galactosidase
21497194-1#81#97#diseaseC2718068 179-195 diseaseC2718068 denotes GLB1) deficiency
21497194-2#44#48#gene2720 352-356 gene2720 denotes GLB1
21497194-2#84#102#diseaseC0085131 392-410 diseaseC0085131 denotes GM1 gangliosidosis
21497194-8#62#66#gene2720 974-978 gene2720 denotes GLB1
21497194-8#15#43#diseaseC0268271 927-955 diseaseC0268271 denotes infantile GM1 gangliosidosis
61#79#gene272081#97#diseaseC2718068 21497194-1#61#79#gene2720 21497194-1#81#97#diseaseC2718068 associated_with beta-galactosidase,GLB1) deficiency
44#48#gene272084#102#diseaseC0085131 21497194-2#44#48#gene2720 21497194-2#84#102#diseaseC0085131 associated_with GLB1,GM1 gangliosidosis
62#66#gene272015#43#diseaseC0268271 21497194-8#62#66#gene2720 21497194-8#15#43#diseaseC0268271 associated_with GLB1,infantile GM1 gangliosidosis

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 98-116 ORDO:354 denotes GM1 gangliosidosis
AB2 179-195 ORDO:354 denotes GLB1) deficiency
AB3 392-410 ORDO:354 denotes GM1 gangliosidosis
AB4 752-770 ORDO:354 denotes GM1 gangliosidosis
AB5 777-794 ORDO:3375 denotes triple X syndrome
AB6 1766-1784 ORDO:354 denotes GM1 gangliosidosis

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T1 0-18 Disease denotes GM1 gangliosidosis http://purl.obolibrary.org/obo/MONDO_0018149
T2 98-116 Disease denotes GM1 gangliosidosis http://purl.obolibrary.org/obo/MONDO_0018149
T3 178-195 Disease denotes (GLB1) deficiency http://purl.obolibrary.org/obo/MONDO_0018149
T4 211-237 Disease denotes lysosomal storage diseases http://purl.obolibrary.org/obo/MONDO_0002561
T5 392-410 Disease denotes GM1 gangliosidosis http://purl.obolibrary.org/obo/MONDO_0018149
T6 752-770 Disease denotes GM1 gangliosidosis http://purl.obolibrary.org/obo/MONDO_0018149
T7 777-794 Disease denotes triple X syndrome http://purl.obolibrary.org/obo/MONDO_0018066
T8 813-840 Disease denotes juvenile GM1 gangliosidosis http://purl.obolibrary.org/obo/MONDO_0009261
T9 927-955 Disease denotes infantile GM1 gangliosidosis http://purl.obolibrary.org/obo/MONDO_0009260
T10 1766-1784 Disease denotes GM1 gangliosidosis http://purl.obolibrary.org/obo/MONDO_0018149

Glycan-GlyCosmos

Id Subject Object Predicate Lexical cue image
T1 0-3 Glycan denotes GM1 https://api.glycosmos.org/wurcs2image/latest/png/binary/G48558GR
T2 98-101 Glycan denotes GM1 https://api.glycosmos.org/wurcs2image/latest/png/binary/G48558GR
T3 392-395 Glycan denotes GM1 https://api.glycosmos.org/wurcs2image/latest/png/binary/G48558GR
T4 752-755 Glycan denotes GM1 https://api.glycosmos.org/wurcs2image/latest/png/binary/G48558GR
T5 822-825 Glycan denotes GM1 https://api.glycosmos.org/wurcs2image/latest/png/binary/G48558GR
T6 937-940 Glycan denotes GM1 https://api.glycosmos.org/wurcs2image/latest/png/binary/G48558GR
T7 1766-1769 Glycan denotes GM1 https://api.glycosmos.org/wurcs2image/latest/png/binary/G48558GR

GlyCosmos-GlycoEpitope

Id Subject Object Predicate Lexical cue glycoepitope_id
T1 0-3 http://purl.jp/bio/12/glyco/glycan#Glycan_epitope denotes GM1 http://www.glycoepitope.jp/epitopes/EP0050
T2 98-101 http://purl.jp/bio/12/glyco/glycan#Glycan_epitope denotes GM1 http://www.glycoepitope.jp/epitopes/EP0050
T3 392-395 http://purl.jp/bio/12/glyco/glycan#Glycan_epitope denotes GM1 http://www.glycoepitope.jp/epitopes/EP0050
T4 752-755 http://purl.jp/bio/12/glyco/glycan#Glycan_epitope denotes GM1 http://www.glycoepitope.jp/epitopes/EP0050
T5 822-825 http://purl.jp/bio/12/glyco/glycan#Glycan_epitope denotes GM1 http://www.glycoepitope.jp/epitopes/EP0050
T6 937-940 http://purl.jp/bio/12/glyco/glycan#Glycan_epitope denotes GM1 http://www.glycoepitope.jp/epitopes/EP0050
T7 1766-1769 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
T1 0-18 Disease denotes GM1 gangliosidosis http://purl.obolibrary.org/obo/MONDO_0018149
T2 98-116 Disease denotes GM1 gangliosidosis http://purl.obolibrary.org/obo/MONDO_0018149
T3 178-195 Disease denotes (GLB1) deficiency http://purl.obolibrary.org/obo/MONDO_0018149
T4 211-237 Disease denotes lysosomal storage diseases http://purl.obolibrary.org/obo/MONDO_0002561
T5 392-410 Disease denotes GM1 gangliosidosis http://purl.obolibrary.org/obo/MONDO_0018149
T6 752-770 Disease denotes GM1 gangliosidosis http://purl.obolibrary.org/obo/MONDO_0018149
T7 777-794 Disease denotes triple X syndrome http://purl.obolibrary.org/obo/MONDO_0018066
T8 813-840 Disease denotes juvenile GM1 gangliosidosis http://purl.obolibrary.org/obo/MONDO_0009261
T9 927-955 Disease denotes infantile GM1 gangliosidosis http://purl.obolibrary.org/obo/MONDO_0009260
T10 1766-1784 Disease denotes GM1 gangliosidosis http://purl.obolibrary.org/obo/MONDO_0018149

GlyCosmos15-NCBITAXON

Id Subject Object Predicate Lexical cue db_id
T1 739-746 OrganismTaxon denotes patient 9606
T2 800-807 OrganismTaxon denotes patient 9606
T3 914-921 OrganismTaxon denotes patient 9606

GlyCosmos15-UBERON

Id Subject Object Predicate Lexical cue uberon_id
T1 813-821 Body_part denotes juvenile http://purl.obolibrary.org/obo/UBERON_0007021

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-97 Sentence denotes GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.
TextSentencer_T2 98-307 Sentence denotes GM1 gangliosidosis and Morquio B syndrome, both arising from beta-galactosidase (GLB1) deficiency, are very rare lysosomal storage diseases with an incidence of about 1:100,000-1:200,000 live births worldwide.
TextSentencer_T3 308-475 Sentence denotes Here we report the beta-galactosidase gene (GLB1) mutation analysis of 21 unrelated GM1 gangliosidosis patients, and of 4 Morquio B patients, of whom two are brothers.
TextSentencer_T4 476-563 Sentence denotes Clinical features of the patients were collected and compared with those in literature.
TextSentencer_T5 564-687 Sentence denotes In silico analyses were performed by standard alignments tools and by an improved version of GLB1 three-dimensional models.
TextSentencer_T6 688-734 Sentence denotes The analysed cohort includes remarkable cases.
TextSentencer_T7 735-795 Sentence denotes One patient with GM1 gangliosidosis had a triple X syndrome.
TextSentencer_T8 796-911 Sentence denotes One patient with juvenile GM1 gangliosidosis was homozygous for a mutation previously identified in Morquio type B.
TextSentencer_T9 912-1109 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.
TextSentencer_T10 1110-1169 Sentence denotes Molecular analysis showed 27 mutations, 9 of which are new:
TextSentencer_T11 1170-1223 Sentence denotes 5 missense, 3 microdeletions and a nonsense mutation.
TextSentencer_T12 1224-1357 Sentence denotes We also identified four new genetic variants with a predicted polymorphic nature that was further investigated by in silico analyses.
TextSentencer_T13 1358-1656 Sentence denotes Three-dimensional structural analysis of GLB1 homology models including the new missense mutations and the p.R68W and p.R109W amino acid changes showed that all the amino acid replacements affected the resulting protein structures in different ways, from changes in polarity to folding alterations.
TextSentencer_T14 1657-1807 Sentence denotes Genetic and clinical associations led us to undertake a critical review of the classifications of late-onset GM1 gangliosidosis and Morquio B disease.
T1 0-97 Sentence denotes GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.
T2 98-307 Sentence denotes GM1 gangliosidosis and Morquio B syndrome, both arising from beta-galactosidase (GLB1) deficiency, are very rare lysosomal storage diseases with an incidence of about 1:100,000-1:200,000 live births worldwide.
T3 308-475 Sentence denotes Here we report the beta-galactosidase gene (GLB1) mutation analysis of 21 unrelated GM1 gangliosidosis patients, and of 4 Morquio B patients, of whom two are brothers.
T4 476-563 Sentence denotes Clinical features of the patients were collected and compared with those in literature.
T5 564-687 Sentence denotes In silico analyses were performed by standard alignments tools and by an improved version of GLB1 three-dimensional models.
T6 688-734 Sentence denotes The analysed cohort includes remarkable cases.
T7 735-795 Sentence denotes One patient with GM1 gangliosidosis had a triple X syndrome.
T8 796-911 Sentence denotes One patient with juvenile GM1 gangliosidosis was homozygous for a mutation previously identified in Morquio type B.
T9 912-1109 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.
T10 1110-1169 Sentence denotes Molecular analysis showed 27 mutations, 9 of which are new:
T11 1170-1223 Sentence denotes 5 missense, 3 microdeletions and a nonsense mutation.
T12 1224-1357 Sentence denotes We also identified four new genetic variants with a predicted polymorphic nature that was further investigated by in silico analyses.
T13 1358-1656 Sentence denotes Three-dimensional structural analysis of GLB1 homology models including the new missense mutations and the p.R68W and p.R109W amino acid changes showed that all the amino acid replacements affected the resulting protein structures in different ways, from changes in polarity to folding alterations.
T14 1657-1807 Sentence denotes Genetic and clinical associations led us to undertake a critical review of the classifications of late-onset GM1 gangliosidosis and Morquio B disease.

GlyCosmos15-Sentences

Id Subject Object Predicate Lexical cue
T1 0-97 Sentence denotes GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.
T2 98-307 Sentence denotes GM1 gangliosidosis and Morquio B syndrome, both arising from beta-galactosidase (GLB1) deficiency, are very rare lysosomal storage diseases with an incidence of about 1:100,000-1:200,000 live births worldwide.
T3 308-475 Sentence denotes Here we report the beta-galactosidase gene (GLB1) mutation analysis of 21 unrelated GM1 gangliosidosis patients, and of 4 Morquio B patients, of whom two are brothers.
T4 476-563 Sentence denotes Clinical features of the patients were collected and compared with those in literature.
T5 564-687 Sentence denotes In silico analyses were performed by standard alignments tools and by an improved version of GLB1 three-dimensional models.
T6 688-734 Sentence denotes The analysed cohort includes remarkable cases.
T7 735-795 Sentence denotes One patient with GM1 gangliosidosis had a triple X syndrome.
T8 796-1109 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.
T9 1110-1169 Sentence denotes Molecular analysis showed 27 mutations, 9 of which are new:
T10 1170-1223 Sentence denotes 5 missense, 3 microdeletions and a nonsense mutation.
T11 1224-1357 Sentence denotes We also identified four new genetic variants with a predicted polymorphic nature that was further investigated by in silico analyses.
T12 1358-1656 Sentence denotes Three-dimensional structural analysis of GLB1 homology models including the new missense mutations and the p.R68W and p.R109W amino acid changes showed that all the amino acid replacements affected the resulting protein structures in different ways, from changes in polarity to folding alterations.
T13 1657-1807 Sentence denotes Genetic and clinical associations led us to undertake a critical review of the classifications of late-onset GM1 gangliosidosis and Morquio B disease.

GlyCosmos15-Glycan

Id Subject Object Predicate Lexical cue image
T1 0-3 Glycan denotes GM1 https://api.glycosmos.org/wurcs2image/latest/png/binary/G48558GR
T2 98-101 Glycan denotes GM1 https://api.glycosmos.org/wurcs2image/latest/png/binary/G48558GR
T3 392-395 Glycan denotes GM1 https://api.glycosmos.org/wurcs2image/latest/png/binary/G48558GR
T4 752-755 Glycan denotes GM1 https://api.glycosmos.org/wurcs2image/latest/png/binary/G48558GR
T5 822-825 Glycan denotes GM1 https://api.glycosmos.org/wurcs2image/latest/png/binary/G48558GR
T6 937-940 Glycan denotes GM1 https://api.glycosmos.org/wurcs2image/latest/png/binary/G48558GR
T7 1766-1769 Glycan denotes GM1 https://api.glycosmos.org/wurcs2image/latest/png/binary/G48558GR

GlyCosmos15-GlycoEpitope

Id Subject Object Predicate Lexical cue glycoepitope_id
T1 0-3 http://purl.jp/bio/12/glyco/glycan#Glycan_epitope denotes GM1 http://www.glycoepitope.jp/epitopes/EP0050
T2 98-101 http://purl.jp/bio/12/glyco/glycan#Glycan_epitope denotes GM1 http://www.glycoepitope.jp/epitopes/EP0050
T3 392-395 http://purl.jp/bio/12/glyco/glycan#Glycan_epitope denotes GM1 http://www.glycoepitope.jp/epitopes/EP0050
T4 752-755 http://purl.jp/bio/12/glyco/glycan#Glycan_epitope denotes GM1 http://www.glycoepitope.jp/epitopes/EP0050
T5 822-825 http://purl.jp/bio/12/glyco/glycan#Glycan_epitope denotes GM1 http://www.glycoepitope.jp/epitopes/EP0050
T6 937-940 http://purl.jp/bio/12/glyco/glycan#Glycan_epitope denotes GM1 http://www.glycoepitope.jp/epitopes/EP0050
T7 1766-1769 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
T1 739-746 OrganismTaxon denotes patient 9606
T2 800-807 OrganismTaxon denotes patient 9606
T3 914-921 OrganismTaxon denotes patient 9606

Anatomy-UBERON

Id Subject Object Predicate Lexical cue uberon_id
T1 813-821 Body_part denotes juvenile http://purl.obolibrary.org/obo/UBERON_0007021