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PubMed:18050247 JSONTXT

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PubTator4TogoVar

Id Subject Object Predicate Lexical cue proteinmutation
18050247_0 1029-1034 ProteinMutation denotes N673S rs3917815
18050247_1 1104-1109 ProteinMutation denotes C203S rs10127175

LitCoin-entities

Id Subject Object Predicate Lexical cue db_id
4589 64-92 DiseaseOrPhenotypicFeature denotes systemic lupus erythematosus MESH:D008180
4590 179-207 DiseaseOrPhenotypicFeature denotes systemic lupus erythematosus MESH:D008180
4591 209-212 DiseaseOrPhenotypicFeature denotes SLE MESH:D008180
4592 244-252 OrganismTaxon denotes patients NCBITaxon:9606
4593 354-357 DiseaseOrPhenotypicFeature denotes SLE MESH:D008180
4594 450-458 OrganismTaxon denotes patients NCBITaxon:9606
4595 480-483 DiseaseOrPhenotypicFeature denotes SLE MESH:D008180
4596 839-842 DiseaseOrPhenotypicFeature denotes SLE MESH:D008180
4597 1018-1021 DiseaseOrPhenotypicFeature denotes SLE MESH:D008180
4598 1029-1034 SequenceVariant denotes N673S DBSNP:rs3917815
4599 1055-1065 GeneOrGeneProduct denotes P-selectin NCBIGene:6403
4600 1072-1076 GeneOrGeneProduct denotes SELP NCBIGene:6403
4601 1104-1109 SequenceVariant denotes C203S DBSNP:rs10127175
4602 1130-1172 GeneOrGeneProduct denotes interleukin-1 receptor-associated kinase 1 NCBIGene:3654
4603 1179-1184 GeneOrGeneProduct denotes IRAK1 NCBIGene:3654
4604 1430-1433 DiseaseOrPhenotypicFeature denotes SLE MESH:D008180
4605 1522-1529 GeneOrGeneProduct denotes TNFRSF6 NCBIGene:355
4606 1531-1534 GeneOrGeneProduct denotes Fas NCBIGene:355
4607 1540-1544 GeneOrGeneProduct denotes IRF5 NCBIGene:3663
4608 1601-1604 DiseaseOrPhenotypicFeature denotes SLE MESH:D008180
4609 1631-1635 GeneOrGeneProduct denotes SELP NCBIGene:6403
4610 1640-1645 GeneOrGeneProduct denotes IRAK1 NCBIGene:3654
4611 1671-1674 DiseaseOrPhenotypicFeature denotes SLE MESH:D008180
4612 1791-1794 DiseaseOrPhenotypicFeature denotes SLE MESH:D008180

LitCoin-sentences

Id Subject Object Predicate Lexical cue
T1 0-151 Sentence denotes Identification of novel susceptibility genes in childhood-onset systemic lupus erythematosus using a uniquely designed candidate gene pathway platform.
T2 152-162 Sentence denotes OBJECTIVE:
T3 163-271 Sentence denotes Childhood-onset systemic lupus erythematosus (SLE) presents a unique subgroup of patients for genetic study.
T4 272-510 Sentence denotes The present study was undertaken to identify susceptibility genes contributing to SLE, using a novel candidate gene pathway microarray platform to investigate gene expression in patients with childhood-onset SLE and both of their parents.
T5 511-519 Sentence denotes METHODS:
T6 520-654 Sentence denotes Utilizing bioinformatic tools, a platform of 9,412 single-nucleotide polymorphisms (SNPs) from 1,204 genes was designed and validated.
T7 655-751 Sentence denotes Molecular inversion probes and high-throughput SNP technologies were used for assay development.
T8 752-955 Sentence denotes Seven hundred fifty three subjects, corresponding to 251 full trios of childhood-onset SLE families, were genotyped and analyzed using transmission disequilibrium testing (TDT) and multitest corrections.
T9 956-964 Sentence denotes RESULTS:
T10 965-1206 Sentence denotes Family-based TDT showed a significant association of SLE with a N673S polymorphism in the P-selectin gene (SELP) (P = 5.74 x 10(-6)) and a C203S polymorphism in the interleukin-1 receptor-associated kinase 1 gene (IRAK1) (P = 9.58 x 10(-6)).
T11 1207-1345 Sentence denotes These 2 SNPs had a false discovery rate for multitest correction of <0.05, and therefore a >95% probability of being considered as proven.
T12 1346-1481 Sentence denotes Furthermore, 7 additional SNPs showed q values of <0.5, suggesting association with SLE and providing a direction for followup studies.
T13 1482-1618 Sentence denotes These additional genes notably included TNFRSF6 (Fas) and IRF5, supporting previous findings of their association with SLE pathogenesis.
T14 1619-1795 Sentence denotes CONCLUSION: SELP and IRAK1 were identified as novel SLE-associated genes with a high degree of significance, suggesting new directions in understanding the pathogenesis of SLE.
T15 1796-2033 Sentence denotes The overall design and results of this study demonstrate that the candidate gene pathway microarray platform used provides a novel and powerful approach that is generally applicable in identifying genetic foundations of complex diseases.

LitCoin_Mondo

Id Subject Object Predicate Lexical cue mondo_id
T1 64-92 DiseaseOrPhenotypicFeature denotes systemic lupus erythematosus 0007915
T2 73-92 DiseaseOrPhenotypicFeature denotes lupus erythematosus 0004670
T3 179-207 DiseaseOrPhenotypicFeature denotes systemic lupus erythematosus 0007915
T4 188-207 DiseaseOrPhenotypicFeature denotes lupus erythematosus 0004670

LitCoin-SeqVar

Id Subject Object Predicate Lexical cue
T1 1029-1034 SequenceVariant denotes N673S
T2 1104-1109 SequenceVariant denotes C203S
T3 1213-1218 SequenceVariant denotes 2 SNP

LitCoin-GeneOrGeneProduct-v0

Id Subject Object Predicate Lexical cue
T1 18-23 GeneOrGeneProduct denotes novel
T2 367-372 GeneOrGeneProduct denotes novel
T3 511-518 GeneOrGeneProduct denotes METHODS
T4 686-690 GeneOrGeneProduct denotes high
T5 809-813 GeneOrGeneProduct denotes full
T6 814-819 GeneOrGeneProduct denotes trios
T7 915-922 GeneOrGeneProduct denotes testing
T8 972-977 GeneOrGeneProduct denotes based
T9 1055-1065 GeneOrGeneProduct denotes P-selectin
T10 1072-1076 GeneOrGeneProduct denotes SELP
T11 1130-1172 GeneOrGeneProduct denotes interleukin-1 receptor-associated kinase 1
T12 1179-1184 GeneOrGeneProduct denotes IRAK1
T13 1220-1225 GeneOrGeneProduct denotes had a
T14 1303-1314 GeneOrGeneProduct denotes probability
T15 1386-1392 GeneOrGeneProduct denotes values
T16 1522-1529 GeneOrGeneProduct denotes TNFRSF6
T17 1531-1534 GeneOrGeneProduct denotes Fas
T18 1540-1544 GeneOrGeneProduct denotes IRF5
T19 1566-1574 GeneOrGeneProduct denotes findings
T20 1631-1635 GeneOrGeneProduct denotes SELP
T21 1640-1645 GeneOrGeneProduct denotes IRAK1
T22 1665-1670 GeneOrGeneProduct denotes novel
T23 1686-1698 GeneOrGeneProduct denotes genes with a
T24 1699-1703 GeneOrGeneProduct denotes high
T25 1921-1926 GeneOrGeneProduct denotes novel

LitCoin-GeneOrGeneProduct-v2

Id Subject Object Predicate Lexical cue
T1 18-23 GeneOrGeneProduct denotes novel
T2 367-372 GeneOrGeneProduct denotes novel
T3 686-690 GeneOrGeneProduct denotes high
T4 1055-1065 GeneOrGeneProduct denotes P-selectin
T5 1072-1076 GeneOrGeneProduct denotes SELP
T6 1130-1172 GeneOrGeneProduct denotes interleukin-1 receptor-associated kinase 1
T7 1179-1184 GeneOrGeneProduct denotes IRAK1
T8 1522-1529 GeneOrGeneProduct denotes TNFRSF6
T9 1540-1544 GeneOrGeneProduct denotes IRF5
T10 1631-1635 GeneOrGeneProduct denotes SELP
T11 1640-1645 GeneOrGeneProduct denotes IRAK1
T12 1665-1670 GeneOrGeneProduct denotes novel
T13 1699-1703 GeneOrGeneProduct denotes high
T14 1921-1926 GeneOrGeneProduct denotes novel

LitCoin-Disease-MeSH

Id Subject Object Predicate Lexical cue originalLabel
T1 64-92 DiseaseOrPhenotypicFeature denotes systemic lupus erythematosus D008180
T2 179-207 DiseaseOrPhenotypicFeature denotes systemic lupus erythematosus D008180
T3 209-212 DiseaseOrPhenotypicFeature denotes SLE D008180
T4 354-357 DiseaseOrPhenotypicFeature denotes SLE D008180
T5 480-483 DiseaseOrPhenotypicFeature denotes SLE D008180
T6 839-842 DiseaseOrPhenotypicFeature denotes SLE D008180
T7 1018-1021 DiseaseOrPhenotypicFeature denotes SLE D008180
T8 1430-1433 DiseaseOrPhenotypicFeature denotes SLE D008180
T9 1601-1604 DiseaseOrPhenotypicFeature denotes SLE D008180
T10 1671-1674 DiseaseOrPhenotypicFeature denotes SLE D008180
T11 1791-1794 DiseaseOrPhenotypicFeature denotes SLE D008180
T12 2024-2032 DiseaseOrPhenotypicFeature denotes diseases D004194

LitCoin-GeneOrGeneProduct-v3

Id Subject Object Predicate Lexical cue
T1 1055-1065 GeneOrGeneProduct denotes P-selectin
T2 1072-1076 GeneOrGeneProduct denotes SELP
T3 1130-1172 GeneOrGeneProduct denotes interleukin-1 receptor-associated kinase 1
T4 1179-1184 GeneOrGeneProduct denotes IRAK1
T5 1522-1529 GeneOrGeneProduct denotes TNFRSF6
T6 1540-1544 GeneOrGeneProduct denotes IRF5
T7 1631-1635 GeneOrGeneProduct denotes SELP
T8 1640-1645 GeneOrGeneProduct denotes IRAK1

LitCoin_Mondo_095

Id Subject Object Predicate Lexical cue mondo_id
T1 64-92 DiseaseOrPhenotypicFeature denotes systemic lupus erythematosus 0007915
T2 179-207 DiseaseOrPhenotypicFeature denotes systemic lupus erythematosus 0007915
T3 209-212 DiseaseOrPhenotypicFeature denotes SLE 0007915
T4 354-357 DiseaseOrPhenotypicFeature denotes SLE 0007915
T5 480-483 DiseaseOrPhenotypicFeature denotes SLE 0007915
T6 665-674 DiseaseOrPhenotypicFeature denotes inversion 0043678
T7 839-842 DiseaseOrPhenotypicFeature denotes SLE 0007915
T8 1018-1021 DiseaseOrPhenotypicFeature denotes SLE 0007915
T9 1430-1433 DiseaseOrPhenotypicFeature denotes SLE 0007915
T10 1601-1604 DiseaseOrPhenotypicFeature denotes SLE 0007915
T11 1671-1674 DiseaseOrPhenotypicFeature denotes SLE 0007915
T12 1791-1794 DiseaseOrPhenotypicFeature denotes SLE 0007915

LitCoin-MeSH-Disease-2

Id Subject Object Predicate Lexical cue ID:
T1 64-92 DiseaseOrPhenotypicFeature denotes systemic lupus erythematosus D008180
T2 179-207 DiseaseOrPhenotypicFeature denotes systemic lupus erythematosus D008180
T3 209-212 DiseaseOrPhenotypicFeature denotes SLE D008180
T4 354-357 DiseaseOrPhenotypicFeature denotes SLE D008180
T5 480-483 DiseaseOrPhenotypicFeature denotes SLE D008180
T6 839-842 DiseaseOrPhenotypicFeature denotes SLE D008180
T7 1018-1021 DiseaseOrPhenotypicFeature denotes SLE D008180
T8 1430-1433 DiseaseOrPhenotypicFeature denotes SLE D008180
T9 1601-1604 DiseaseOrPhenotypicFeature denotes SLE D008180
T10 1671-1674 DiseaseOrPhenotypicFeature denotes SLE D008180
T11 1791-1794 DiseaseOrPhenotypicFeature denotes SLE D008180
T12 2024-2032 DiseaseOrPhenotypicFeature denotes diseases D004194

LitCoin-MONDO_bioort2019

Id Subject Object Predicate Lexical cue #label
T1 64-92 DiseaseOrPhenotypicFeature denotes systemic lupus erythematosus D008180
T2 179-207 DiseaseOrPhenotypicFeature denotes systemic lupus erythematosus D008180
T3 209-212 DiseaseOrPhenotypicFeature denotes SLE D008180
T4 354-357 DiseaseOrPhenotypicFeature denotes SLE D008180
T5 480-483 DiseaseOrPhenotypicFeature denotes SLE D008180
T6 839-842 DiseaseOrPhenotypicFeature denotes SLE D008180
T7 1018-1021 DiseaseOrPhenotypicFeature denotes SLE D008180
T8 1430-1433 DiseaseOrPhenotypicFeature denotes SLE D008180
T9 1601-1604 DiseaseOrPhenotypicFeature denotes SLE D008180
T10 1671-1674 DiseaseOrPhenotypicFeature denotes SLE D008180
T11 1791-1794 DiseaseOrPhenotypicFeature denotes SLE D008180

LitCoin-NCBITaxon-2

Id Subject Object Predicate Lexical cue
T1 244-252 OrganismTaxon denotes patients
T2 450-458 OrganismTaxon denotes patients

LitCoin-training-merged

Id Subject Object Predicate Lexical cue #label
T8 1640-1645 GeneOrGeneProduct denotes IRAK1
T7 1631-1635 GeneOrGeneProduct denotes SELP
T6 1540-1544 GeneOrGeneProduct denotes IRF5
T5 1522-1529 GeneOrGeneProduct denotes TNFRSF6
T4 1179-1184 GeneOrGeneProduct denotes IRAK1
T3 1130-1172 GeneOrGeneProduct denotes interleukin-1 receptor-associated kinase 1
T2 1072-1076 GeneOrGeneProduct denotes SELP
T1 1055-1065 GeneOrGeneProduct denotes P-selectin
T11 1791-1794 DiseaseOrPhenotypicFeature denotes SLE D008180
T10 1671-1674 DiseaseOrPhenotypicFeature denotes SLE D008180
T9 1601-1604 DiseaseOrPhenotypicFeature denotes SLE D008180
T50393 1430-1433 DiseaseOrPhenotypicFeature denotes SLE D008180
T9572 1018-1021 DiseaseOrPhenotypicFeature denotes SLE D008180
T80072 839-842 DiseaseOrPhenotypicFeature denotes SLE D008180
T8452 480-483 DiseaseOrPhenotypicFeature denotes SLE D008180
T59559 354-357 DiseaseOrPhenotypicFeature denotes SLE D008180
T27161 209-212 DiseaseOrPhenotypicFeature denotes SLE D008180
T87603 179-207 DiseaseOrPhenotypicFeature denotes systemic lupus erythematosus D008180
T77109 64-92 DiseaseOrPhenotypicFeature denotes systemic lupus erythematosus D008180
T44258 450-458 OrganismTaxon denotes patients
T74644 244-252 OrganismTaxon denotes patients
T27742 1213-1218 SequenceVariant denotes 2 SNP
T88195 1104-1109 SequenceVariant denotes C203S
T17042 1029-1034 SequenceVariant denotes N673S

DisGeNET

Id Subject Object Predicate Lexical cue
T0 1522-1529 gene:355 denotes TNFRSF6
T1 1601-1604 disease:C0024141 denotes SLE
T2 1531-1534 gene:355 denotes Fas
T3 1601-1604 disease:C0024141 denotes SLE
T4 1540-1544 gene:3663 denotes IRF5
T5 1601-1604 disease:C0024141 denotes SLE
R1 T0 T1 associated_with TNFRSF6,SLE
R2 T2 T3 associated_with Fas,SLE
R3 T4 T5 associated_with IRF5,SLE

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
18050247-6#64#69#geners3917815 1029-1034 geners3917815 denotes N673S
18050247-6#139#144#geners10127175 1104-1109 geners10127175 denotes C203S
18050247-6#53#56#diseaseC0024141 1018-1021 diseaseC0024141 denotes SLE
64#69#geners391781553#56#diseaseC0024141 18050247-6#64#69#geners3917815 18050247-6#53#56#diseaseC0024141 associated_with N673S,SLE
139#144#geners1012717553#56#diseaseC0024141 18050247-6#139#144#geners10127175 18050247-6#53#56#diseaseC0024141 associated_with C203S,SLE

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
18050247-10#0#4#gene6403 1631-1635 gene6403 denotes SELP
18050247-10#9#14#gene3654 1640-1645 gene3654 denotes IRAK1
18050247-10#40#43#diseaseC0024141 1671-1674 diseaseC0024141 denotes SLE
18050247-10#160#163#diseaseC0024141 1791-1794 diseaseC0024141 denotes SLE
18050247-10#40#43#diseaseC0024141 1671-1674 diseaseC0024141 denotes SLE
18050247-10#160#163#diseaseC0024141 1791-1794 diseaseC0024141 denotes SLE
18050247-9#40#47#gene355 1522-1529 gene355 denotes TNFRSF6
18050247-9#49#51#gene355 1531-1533 gene355 denotes Fa
18050247-9#58#62#gene3663 1540-1544 gene3663 denotes IRF5
18050247-9#119#122#diseaseC0024141 1601-1604 diseaseC0024141 denotes SLE
0#4#gene640340#43#diseaseC0024141 18050247-10#0#4#gene6403 18050247-10#40#43#diseaseC0024141 associated_with SELP,SLE
0#4#gene6403160#163#diseaseC0024141 18050247-10#0#4#gene6403 18050247-10#160#163#diseaseC0024141 associated_with SELP,SLE
0#4#gene640340#43#diseaseC0024141 18050247-10#0#4#gene6403 18050247-10#40#43#diseaseC0024141 associated_with SELP,SLE
0#4#gene6403160#163#diseaseC0024141 18050247-10#0#4#gene6403 18050247-10#160#163#diseaseC0024141 associated_with SELP,SLE
9#14#gene365440#43#diseaseC0024141 18050247-10#9#14#gene3654 18050247-10#40#43#diseaseC0024141 associated_with IRAK1,SLE
9#14#gene3654160#163#diseaseC0024141 18050247-10#9#14#gene3654 18050247-10#160#163#diseaseC0024141 associated_with IRAK1,SLE
9#14#gene365440#43#diseaseC0024141 18050247-10#9#14#gene3654 18050247-10#40#43#diseaseC0024141 associated_with IRAK1,SLE
9#14#gene3654160#163#diseaseC0024141 18050247-10#9#14#gene3654 18050247-10#160#163#diseaseC0024141 associated_with IRAK1,SLE
40#47#gene355119#122#diseaseC0024141 18050247-9#40#47#gene355 18050247-9#119#122#diseaseC0024141 associated_with TNFRSF6,SLE
49#51#gene355119#122#diseaseC0024141 18050247-9#49#51#gene355 18050247-9#119#122#diseaseC0024141 associated_with Fa,SLE
58#62#gene3663119#122#diseaseC0024141 18050247-9#58#62#gene3663 18050247-9#119#122#diseaseC0024141 associated_with IRF5,SLE

tmVarCorpus

Id Subject Object Predicate Lexical cue
T1 1029-1034 ProteinMutation:p|SUB|N|673|S denotes N673S
T2 1104-1109 ProteinMutation:p|SUB|C|203|S denotes C203S