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PubMed:23085304 JSONTXT

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LitCoin-PubTator-for-Tuning

Id Subject Object Predicate Lexical cue tao:has_database_id
1 5-30 DiseaseOrPhenotypicFeature denotes microduplication syndrome MESH:C567173
13 146-170 DiseaseOrPhenotypicFeature denotes contiguous gene syndrome MESH:D025063
14 239-244 GeneOrGeneProduct denotes NIPBL Gene:25836
15 287-295 OrganismTaxon denotes patients Tax:9606
16 301-320 DiseaseOrPhenotypicFeature denotes developmental delay MESH:D002658
17 325-344 DiseaseOrPhenotypicFeature denotes learning disability MESH:D007859
18 370-398 DiseaseOrPhenotypicFeature denotes peculiar facial dysmorphisms MESH:C536480
19 549-556 OrganismTaxon denotes patient Tax:9606
20 598-603 GeneOrGeneProduct denotes NIPBL Gene:25836
21 663-671 OrganismTaxon denotes patients Tax:9606
22 682-707 DiseaseOrPhenotypicFeature denotes microduplication syndrome MESH:C567173
23 878-883 GeneOrGeneProduct denotes NIPBL Gene:25836

LitCoin-Disease-Tuning-1

Id Subject Object Predicate Lexical cue ID:
T1 22-30 DiseaseOrPhenotypicFeature denotes syndrome D013577
T2 81-89 DiseaseOrPhenotypicFeature denotes syndrome D013577
T3 91-127 DiseaseOrPhenotypicFeature denotes Chromosome 5p13 duplication syndrome C567717
T4 162-170 DiseaseOrPhenotypicFeature denotes syndrome D013577
T5 301-320 DiseaseOrPhenotypicFeature denotes developmental delay DISEASE
T6 325-344 DiseaseOrPhenotypicFeature denotes learning disability D007859
T7 579-587 DiseaseOrPhenotypicFeature denotes syndrome D013577
T8 699-707 DiseaseOrPhenotypicFeature denotes syndrome D013577

LitEisuke

Id Subject Object Predicate Lexical cue #label
T1 91-127 DiseaseOrPhenotypicFeature denotes Chromosome 5p13 duplication syndrome C567717
T2 301-320 DiseaseOrPhenotypicFeature denotes developmental delay DISEASE
T3 325-344 DiseaseOrPhenotypicFeature denotes learning disability D007859

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-90 Sentence denotes 5p13 microduplication syndrome: a new case and better clinical definition of the syndrome.
TextSentencer_T2 91-399 Sentence denotes Chromosome 5p13 duplication syndrome (OMIM #613174), a contiguous gene syndrome involving duplication of several genes on chromosome 5p13 including NIPBL (OMIM 608667), has been described in rare patients with developmental delay and learning disability, behavioral problems and peculiar facial dysmorphisms.
TextSentencer_T3 400-525 Sentence denotes 5p13 duplications described so far present with variable sizes, from 0.25 to 13.6 Mb, and contain a variable number of genes.
TextSentencer_T4 526-614 Sentence denotes Here we report another patient with 5p13 duplication syndrome including NIPBL gene only.
TextSentencer_T5 615-766 Sentence denotes Proband's phenotype overlapped that reported in patients with 5p13 microduplication syndrome and especially that of subjects with smaller duplications.
TextSentencer_T6 767-967 Sentence denotes Moreover, we better define genotype-phenotype relationship associated with this duplication and confirmed that NIPBL was likely the major dosage sensitive gene for the 5p13 microduplication phenotype.
T1 0-90 Sentence denotes 5p13 microduplication syndrome: a new case and better clinical definition of the syndrome.
T2 91-399 Sentence denotes Chromosome 5p13 duplication syndrome (OMIM #613174), a contiguous gene syndrome involving duplication of several genes on chromosome 5p13 including NIPBL (OMIM 608667), has been described in rare patients with developmental delay and learning disability, behavioral problems and peculiar facial dysmorphisms.
T3 400-525 Sentence denotes 5p13 duplications described so far present with variable sizes, from 0.25 to 13.6 Mb, and contain a variable number of genes.
T4 526-614 Sentence denotes Here we report another patient with 5p13 duplication syndrome including NIPBL gene only.
T5 615-766 Sentence denotes Proband's phenotype overlapped that reported in patients with 5p13 microduplication syndrome and especially that of subjects with smaller duplications.
T6 767-967 Sentence denotes Moreover, we better define genotype-phenotype relationship associated with this duplication and confirmed that NIPBL was likely the major dosage sensitive gene for the 5p13 microduplication phenotype.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 239-244 gene:25836 denotes NIPBL
T1 301-320 disease:C0424605 denotes developmental delay
T2 239-244 gene:25836 denotes NIPBL
T3 325-344 disease:C0751265 denotes learning disability
T4 239-244 gene:25836 denotes NIPBL
T5 386-398 disease:C0000768 denotes dysmorphisms
R1 T0 T1 associated_with NIPBL,developmental delay
R2 T2 T3 associated_with NIPBL,learning disability
R3 T4 T5 associated_with NIPBL,dysmorphisms

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 107-118 HP_0009609 denotes duplication
T2 146-170 HP_0001466 denotes contiguous gene syndrome
T3 181-192 HP_0009609 denotes duplication
T4 301-320 HP_0001263 denotes developmental delay
T5 346-365 HP_0000708 denotes behavioral problems
T6 379-398 HP_0001999 denotes facial dysmorphisms
T7 405-417 HP_0009609 denotes duplications
T8 567-578 HP_0009609 denotes duplication
T9 753-765 HP_0009609 denotes duplications
T10 847-858 HP_0009609 denotes duplication

PubCasesORDO

Id Subject Object Predicate Lexical cue
TI1 0-30 ORDO:329802 denotes 5p13 microduplication syndrome
AB1 677-707 ORDO:329802 denotes 5p13 microduplication syndrome