> top > docs > PubMed:16321363 > annotations

PubMed:16321363 JSONTXT

Annnotations TAB JSON ListView MergeView

TEST-DiseaseOrPhenotypicFeature

Id Subject Object Predicate Lexical cue #label
T1 0-36 DiseaseOrPhenotypicFeature denotes Congenital disorder of glycosylation D018981
T2 117-153 DiseaseOrPhenotypicFeature denotes congenital disorder of glycosylation D018981

TEST-ChemicalEntity

Id Subject Object Predicate Lexical cue ID:
T1 158-161 ChemicalEntity denotes CDG http://purl.obolibrary.org/obo/CHEBI_140231
T2 201-204 ChemicalEntity denotes CDG http://purl.obolibrary.org/obo/CHEBI_140231
T3 238-267 ChemicalEntity denotes lipid-linked oligosaccharides C023023
T4 282-289 ChemicalEntity denotes glucose D005947|http://purl.obolibrary.org/obo/CHEBI_4167|http://purl.obolibrary.org/obo/CHEBI_17234
T7 493-504 ChemicalEntity denotes DNA markers D005819
T8 849-852 ChemicalEntity denotes CDG http://purl.obolibrary.org/obo/CHEBI_140231
T9 909-912 ChemicalEntity denotes CDG http://purl.obolibrary.org/obo/CHEBI_140231

TEST-OrganismTaxon

Id Subject Object Predicate Lexical cue
T1 457-464 OrganismTaxon denotes patient

Test-SequenceVariant

Id Subject Object Predicate Lexical cue
T1 404-408 SequenceVariant denotes 338G

Test-GeneOrGeneProduct

Id Subject Object Predicate Lexical cue
T1 322-326 GeneOrGeneProduct denotes ALG6
T2 556-560 GeneOrGeneProduct denotes ALG6

Test-merged

Id Subject Object Predicate Lexical cue #label ID:
T2 117-153 DiseaseOrPhenotypicFeature denotes congenital disorder of glycosylation D018981
T1 0-36 DiseaseOrPhenotypicFeature denotes Congenital disorder of glycosylation D018981
T61735 457-464 OrganismTaxon denotes patient
T92222 556-560 GeneOrGeneProduct denotes ALG6
T57965 322-326 GeneOrGeneProduct denotes ALG6
T9 909-912 ChemicalEntity denotes CDG http://purl.obolibrary.org/obo/CHEBI_140231
T8 849-852 ChemicalEntity denotes CDG http://purl.obolibrary.org/obo/CHEBI_140231
T7 493-504 ChemicalEntity denotes DNA markers D005819
T4 282-289 ChemicalEntity denotes glucose http://purl.obolibrary.org/obo/CHEBI_17234|http://purl.obolibrary.org/obo/CHEBI_4167|D005947
T3 238-267 ChemicalEntity denotes lipid-linked oligosaccharides C023023
T88209 201-204 ChemicalEntity denotes CDG http://purl.obolibrary.org/obo/CHEBI_140231
T80748 158-161 ChemicalEntity denotes CDG http://purl.obolibrary.org/obo/CHEBI_140231
T9632 404-408 SequenceVariant denotes 338G

Test-merged-2

Id Subject Object Predicate Lexical cue #label ID:
T9632 404-408 SequenceVariant denotes 338G
T80748 158-161 ChemicalEntity denotes CDG http://purl.obolibrary.org/obo/CHEBI_140231
T88209 201-204 ChemicalEntity denotes CDG http://purl.obolibrary.org/obo/CHEBI_140231
T3 238-267 ChemicalEntity denotes lipid-linked oligosaccharides C023023
T4 282-289 ChemicalEntity denotes glucose D005947|http://purl.obolibrary.org/obo/CHEBI_4167|http://purl.obolibrary.org/obo/CHEBI_17234
T7 493-504 ChemicalEntity denotes DNA markers D005819
T8 849-852 ChemicalEntity denotes CDG http://purl.obolibrary.org/obo/CHEBI_140231
T9 909-912 ChemicalEntity denotes CDG http://purl.obolibrary.org/obo/CHEBI_140231
T57965 322-326 GeneOrGeneProduct denotes ALG6
T92222 556-560 GeneOrGeneProduct denotes ALG6
T61735 457-464 OrganismTaxon denotes patient
T1 0-36 DiseaseOrPhenotypicFeature denotes Congenital disorder of glycosylation D018981
T2 117-153 DiseaseOrPhenotypicFeature denotes congenital disorder of glycosylation D018981

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-89 Sentence denotes Congenital disorder of glycosylation Ic due to a de novo deletion and an hALG-6 mutation.
TextSentencer_T2 90-215 Sentence denotes We describe a new cause of congenital disorder of glycosylation-Ic (CDG-Ic) in a young girl with a rather mild CDG phenotype.
TextSentencer_T3 216-412 Sentence denotes Her cells accumulated lipid-linked oligosaccharides lacking three glucose residues, and sequencing of the ALG6 gene showed what initially appeared to be a homozygous novel point mutation (338G>A).
TextSentencer_T4 413-644 Sentence denotes However, haplotype analysis showed that the patient does not carry any paternal DNA markers extending 33kb in the telomeric direction from the ALG6 region, and microsatellite analysis extended the abnormal region to at least 2.5Mb.
TextSentencer_T5 645-814 Sentence denotes We used high-resolution karyotyping to confirm a deletion (10-12Mb) [del(1)(p31.2p32.3)] and found no structural abnormalities in the father, suggesting a de novo event.
TextSentencer_T6 815-925 Sentence denotes Our findings extend the causes of CDG to larger DNA deletions and identify the first Japanese CDG-Ic mutation.
T1 0-89 Sentence denotes Congenital disorder of glycosylation Ic due to a de novo deletion and an hALG-6 mutation.
T2 90-215 Sentence denotes We describe a new cause of congenital disorder of glycosylation-Ic (CDG-Ic) in a young girl with a rather mild CDG phenotype.
T3 216-412 Sentence denotes Her cells accumulated lipid-linked oligosaccharides lacking three glucose residues, and sequencing of the ALG6 gene showed what initially appeared to be a homozygous novel point mutation (338G>A).
T4 413-644 Sentence denotes However, haplotype analysis showed that the patient does not carry any paternal DNA markers extending 33kb in the telomeric direction from the ALG6 region, and microsatellite analysis extended the abnormal region to at least 2.5Mb.
T5 645-814 Sentence denotes We used high-resolution karyotyping to confirm a deletion (10-12Mb) [del(1)(p31.2p32.3)] and found no structural abnormalities in the father, suggesting a de novo event.
T6 815-925 Sentence denotes Our findings extend the causes of CDG to larger DNA deletions and identify the first Japanese CDG-Ic mutation.

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 158-164 ORDO:79320 denotes CDG-Ic
AB2 909-915 ORDO:79320 denotes CDG-Ic

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 714-717 http://purl.obolibrary.org/obo/UBERON_2000711 denotes del

tmVarCorpus

Id Subject Object Predicate Lexical cue
T1 404-410 DNAMutation:|SUB|G|338|A denotes 338G>A