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PubMed:17304550 JSONTXT

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LitCoin-sentences

Id Subject Object Predicate Lexical cue
T1 0-87 Sentence denotes Disruption of a synaptotagmin (SYT14) associated with neurodevelopmental abnormalities.
T2 88-312 Sentence denotes We report cytogenetic and molecular studies of a de novo, apparently balanced t(1;3)(q32.1;q25.1) identified in a 12-year-old female (designated DGAP128) with cerebral atrophy, macrocephaly seizures, and developmental delay.
T3 313-478 Sentence denotes A combination of fluorescence in situ hybridization (FISH) and Southern blot analysis demonstrated disruption of a synaptotagmin gene (SYT14) at the 1q32 breakpoint.
T4 479-552 Sentence denotes Expression of SYT14 in human brain was confirmed using Northern analysis.
T5 553-842 Sentence denotes Because members of the synaptotagmin family of proteins function as sensors that link changes in calcium levels with a variety of biological processes, including neurotransmission and hormone-responsiveness, SYT14 is an intriguing candidate gene for the abnormal development in this child.
T6 843-1047 Sentence denotes This is the first known constitutional rearrangement of SYT14, and further systematic genetic analysis and clinical studies of DGAP128 may offer unique insights into the role of SYT14 in neurodevelopment.

LitCoin-entities-OrganismTaxon-PD

Id Subject Object Predicate Lexical cue db_id
T1 502-507 OrganismTaxon denotes human NCBItxid:9606

LitCoin-entities

Id Subject Object Predicate Lexical cue db_id
3995 16-29 GeneOrGeneProduct denotes synaptotagmin NCBIGene:255928
3996 31-36 GeneOrGeneProduct denotes SYT14 NCBIGene:255928
3997 54-86 DiseaseOrPhenotypicFeature denotes neurodevelopmental abnormalities MESH:D009421
3998 247-263 DiseaseOrPhenotypicFeature denotes cerebral atrophy MESH:D001927
3999 265-277 DiseaseOrPhenotypicFeature denotes macrocephaly MESH:D058627
4000 278-286 DiseaseOrPhenotypicFeature denotes seizures MESH:D012640
4001 292-311 DiseaseOrPhenotypicFeature denotes developmental delay MESH:D002658
4002 428-441 GeneOrGeneProduct denotes synaptotagmin NCBIGene:255928
4003 448-453 GeneOrGeneProduct denotes SYT14 NCBIGene:255928
4004 493-498 GeneOrGeneProduct denotes SYT14 NCBIGene:255928
4005 502-507 OrganismTaxon denotes human NCBITaxon:9606
4006 576-589 GeneOrGeneProduct denotes synaptotagmin NCBIGene:255928
4007 650-657 ChemicalEntity denotes calcium MESH:D002118
4008 761-766 GeneOrGeneProduct denotes SYT14 NCBIGene:255928
4009 899-904 GeneOrGeneProduct denotes SYT14 NCBIGene:255928
4010 1021-1026 GeneOrGeneProduct denotes SYT14 NCBIGene:255928

LitCoin_Mondo

Id Subject Object Predicate Lexical cue mondo_id
T1 247-255 DiseaseOrPhenotypicFeature denotes cerebral 0002645

LitCoin-GeneOrGeneProduct-v2

Id Subject Object Predicate Lexical cue
T1 16-29 GeneOrGeneProduct denotes synaptotagmin
T2 31-36 GeneOrGeneProduct denotes SYT14
T3 278-286 GeneOrGeneProduct denotes seizures
T4 366-370 GeneOrGeneProduct denotes FISH
T5 385-389 GeneOrGeneProduct denotes blot
T6 428-441 GeneOrGeneProduct denotes synaptotagmin
T7 448-453 GeneOrGeneProduct denotes SYT14
T8 493-498 GeneOrGeneProduct denotes SYT14
T9 508-513 GeneOrGeneProduct denotes brain
T10 576-589 GeneOrGeneProduct denotes synaptotagmin
T11 600-617 GeneOrGeneProduct denotes proteins function
T12 634-638 GeneOrGeneProduct denotes link
T13 650-664 GeneOrGeneProduct denotes calcium levels
T14 737-744 GeneOrGeneProduct denotes hormone
T15 761-766 GeneOrGeneProduct denotes SYT14
T16 899-904 GeneOrGeneProduct denotes SYT14
T17 1021-1026 GeneOrGeneProduct denotes SYT14

LitCoin-GeneOrGeneProduct-v0

Id Subject Object Predicate Lexical cue
T1 0-10 GeneOrGeneProduct denotes Disruption
T2 16-29 GeneOrGeneProduct denotes synaptotagmin
T3 31-36 GeneOrGeneProduct denotes SYT14
T4 135-139 GeneOrGeneProduct denotes a de
T5 200-204 GeneOrGeneProduct denotes a 12
T6 205-209 GeneOrGeneProduct denotes year
T7 278-286 GeneOrGeneProduct denotes seizures
T8 366-370 GeneOrGeneProduct denotes FISH
T9 385-389 GeneOrGeneProduct denotes blot
T10 412-422 GeneOrGeneProduct denotes disruption
T11 428-441 GeneOrGeneProduct denotes synaptotagmin
T12 448-453 GeneOrGeneProduct denotes SYT14
T13 493-498 GeneOrGeneProduct denotes SYT14
T14 508-513 GeneOrGeneProduct denotes brain
T15 576-589 GeneOrGeneProduct denotes synaptotagmin
T16 600-617 GeneOrGeneProduct denotes proteins function
T17 634-638 GeneOrGeneProduct denotes link
T18 650-664 GeneOrGeneProduct denotes calcium levels
T19 694-703 GeneOrGeneProduct denotes processes
T20 737-744 GeneOrGeneProduct denotes hormone
T21 761-766 GeneOrGeneProduct denotes SYT14
T22 899-904 GeneOrGeneProduct denotes SYT14
T23 1021-1026 GeneOrGeneProduct denotes SYT14

LitCoin-Disease-MeSH

Id Subject Object Predicate Lexical cue originalLabel
T1 256-263 DiseaseOrPhenotypicFeature denotes atrophy D001284
T2 265-277 DiseaseOrPhenotypicFeature denotes macrocephaly D058627
T3 278-286 DiseaseOrPhenotypicFeature denotes seizures D012640
T4 292-311 DiseaseOrPhenotypicFeature denotes developmental delay DISEASE

LitCoin-GeneOrGeneProduct-v3

Id Subject Object Predicate Lexical cue
T1 16-29 GeneOrGeneProduct denotes synaptotagmin
T2 31-36 GeneOrGeneProduct denotes SYT14
T3 366-370 GeneOrGeneProduct denotes FISH
T4 428-441 GeneOrGeneProduct denotes synaptotagmin
T5 448-453 GeneOrGeneProduct denotes SYT14
T6 493-498 GeneOrGeneProduct denotes SYT14
T7 576-589 GeneOrGeneProduct denotes synaptotagmin
T8 600-617 GeneOrGeneProduct denotes proteins function
T9 761-766 GeneOrGeneProduct denotes SYT14
T10 899-904 GeneOrGeneProduct denotes SYT14
T11 1021-1026 GeneOrGeneProduct denotes SYT14

LitCoin_Mondo_095

Id Subject Object Predicate Lexical cue mondo_id
T1 836-841 DiseaseOrPhenotypicFeature denotes child 0017015

LitCoin-MeSH-Disease-2

Id Subject Object Predicate Lexical cue ID:
T1 54-86 DiseaseOrPhenotypicFeature denotes neurodevelopmental abnormalities DISEASE
T2 256-263 DiseaseOrPhenotypicFeature denotes atrophy D001284
T3 265-277 DiseaseOrPhenotypicFeature denotes macrocephaly D058627
T4 278-286 DiseaseOrPhenotypicFeature denotes seizures D012640
T5 292-311 DiseaseOrPhenotypicFeature denotes developmental delay DISEASE

LitCoin-MONDO_bioort2019

Id Subject Object Predicate Lexical cue #label
T1 54-86 DiseaseOrPhenotypicFeature denotes neurodevelopmental abnormalities DISEASE
T2 256-263 DiseaseOrPhenotypicFeature denotes atrophy D001284
T3 265-277 DiseaseOrPhenotypicFeature denotes macrocephaly D058627
T4 278-286 DiseaseOrPhenotypicFeature denotes seizures D012640
T5 292-311 DiseaseOrPhenotypicFeature denotes developmental delay DISEASE

LitCoin-NCBITaxon-2

Id Subject Object Predicate Lexical cue
T1 366-370 OrganismTaxon denotes FISH
T2 502-507 OrganismTaxon denotes human

LitCoin-Chemical-MeSH-CHEBI

Id Subject Object Predicate Lexical cue ID:
T1 650-657 ChemicalEntity denotes calcium D002118|http://purl.obolibrary.org/obo/CHEBI_29320|http://purl.obolibrary.org/obo/CHEBI_22984

LitCoin-training-merged

Id Subject Object Predicate Lexical cue #label ID:
T1 650-657 ChemicalEntity denotes calcium http://purl.obolibrary.org/obo/CHEBI_22984|http://purl.obolibrary.org/obo/CHEBI_29320|D002118
T11 1021-1026 GeneOrGeneProduct denotes SYT14
T10 899-904 GeneOrGeneProduct denotes SYT14
T9 761-766 GeneOrGeneProduct denotes SYT14
T8 600-617 GeneOrGeneProduct denotes proteins function
T7 576-589 GeneOrGeneProduct denotes synaptotagmin
T6 493-498 GeneOrGeneProduct denotes SYT14
T5 448-453 GeneOrGeneProduct denotes SYT14
T4 428-441 GeneOrGeneProduct denotes synaptotagmin
T3 366-370 GeneOrGeneProduct denotes FISH
T2 31-36 GeneOrGeneProduct denotes SYT14
T55442 16-29 GeneOrGeneProduct denotes synaptotagmin
T37865 292-311 DiseaseOrPhenotypicFeature denotes developmental delay DISEASE
T2908 278-286 DiseaseOrPhenotypicFeature denotes seizures D012640
T96092 265-277 DiseaseOrPhenotypicFeature denotes macrocephaly D058627
T4445 256-263 DiseaseOrPhenotypicFeature denotes atrophy D001284
T40253 54-86 DiseaseOrPhenotypicFeature denotes neurodevelopmental abnormalities DISEASE
T70530 502-507 OrganismTaxon denotes human
T13781 366-370 OrganismTaxon denotes FISH

DisGeNET

Id Subject Object Predicate Lexical cue
T0 761-766 gene:255928 denotes SYT14
T1 807-827 disease:C0000768 denotes abnormal development
R1 T0 T1 associated_with SYT14,abnormal development

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 247-263 HP_0002059 denotes cerebral atrophy
T2 265-277 HP_0000256 denotes macrocephaly
T3 278-286 HP_0001250 denotes seizures
T4 292-311 HP_0001263 denotes developmental delay

PubCasesHPO

Id Subject Object Predicate Lexical cue
TI1 54-86 HP:0012759 denotes neurodevelopmental abnormalities
AB1 247-263 HP:0002059 denotes cerebral atrophy
AB2 265-277 HP:0000256 denotes macrocephaly
AB3 278-286 HP:0001250 denotes seizures