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PubMed:16277682 JSONTXT

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test-210614

Id Subject Object Predicate Lexical cue proteinmutation
16277682_0 17-22 ProteinMutation denotes M404V rs771966860
16277682_1 1572-1577 ProteinMutation denotes M404V rs771966860
16277682_2 1317-1322 ProteinMutation denotes M404V rs771966860
16277682_3 991-996 ProteinMutation denotes M404V rs771966860
16277682_4 646-651 ProteinMutation denotes M404V rs771966860
16277682_5 345-350 ProteinMutation denotes M404V rs771966860
16277682_6 311-343 ProteinMutation denotes valine substitution at codon 404 rs771966860

PubTator4TogoVar

Id Subject Object Predicate Lexical cue proteinmutation
16277682_0 17-22 ProteinMutation denotes M404V rs771966860
16277682_1 1572-1577 ProteinMutation denotes M404V rs771966860
16277682_2 1317-1322 ProteinMutation denotes M404V rs771966860
16277682_3 991-996 ProteinMutation denotes M404V rs771966860
16277682_4 646-651 ProteinMutation denotes M404V rs771966860
16277682_5 345-350 ProteinMutation denotes M404V rs771966860
16277682_6 311-343 ProteinMutation denotes valine substitution at codon 404 rs771966860

LitCoin-sentences

Id Subject Object Predicate Lexical cue
T1 0-138 Sentence denotes Segregation of a M404V mutation of the p62/sequestosome 1 (p62/SQSTM1) gene with polyostotic Paget's disease of bone in an Italian family.
T2 139-271 Sentence denotes Mutations of the p62/Sequestosome 1 gene (p62/SQSTM1) account for both sporadic and familial forms of Paget's disease of bone (PDB).
T3 272-448 Sentence denotes We originally described a methionine-->valine substitution at codon 404 (M404V) of exon 8, in the ubiquitin protein-binding domain of p62/SQSTM1 gene in an Italian PDB patient.
T4 449-545 Sentence denotes The collection of data from the patient's pedigree provided evidence for a familial form of PDB.
T5 546-762 Sentence denotes Extension of the genetic analysis to other relatives in this family demonstrated segregation of the M404V mutation with the polyostotic PDB phenotype and provided the identification of six asymptomatic gene carriers.
T6 763-904 Sentence denotes DNA for mutational analysis of the exon 8 coding sequence was obtained from 22 subjects, 4 PDB patients and 18 clinically unaffected members.
T7 905-1205 Sentence denotes Of the five clinically ascertained affected members of the family, four possessed the M404V mutation and exhibited the polyostotic form of PDB, except one patient with a single X-ray-assessed skeletal localization and one with a polyostotic disease who had died several years before the DNA analysis.
T8 1206-1488 Sentence denotes By both reconstitution and mutational analysis of the pedigree, six unaffected subjects were shown to bear the M404V mutation, representing potential asymptomatic gene carriers whose circulating levels of alkaline phosphatase were recently assessed as still within the normal range.
T9 1489-1655 Sentence denotes Taken together, these results support a genotype-phenotype correlation between the M404V mutation in the p62/SQSTM1 gene and a polyostotic form of PDB in this family.
T10 1656-1967 Sentence denotes The high penetrance of the PDB trait in this family together with the study of the asymptomatic gene carriers will allow us to confirm the proposed genotype-phenotype correlation and to evaluate the potential use of mutational analysis of the p62/SQSTM1 gene in the early detection of relatives at risk for PDB.

LitCoin-entities-OrganismTaxon-PD

Id Subject Object Predicate Lexical cue db_id
T1 334-339 OrganismTaxon denotes codon NCBItxid:79338
T2 453-463 OrganismTaxon denotes collection NCBItxid:1768868
T3 1308-1312 OrganismTaxon denotes bear NCBItxid:9641

LitCoin-entities

Id Subject Object Predicate Lexical cue db_id
2466 17-22 SequenceVariant denotes M404V DBSNP:rs771966860
2467 39-42 GeneOrGeneProduct denotes p62 NCBIGene:8878
2468 43-57 GeneOrGeneProduct denotes sequestosome 1 NCBIGene:8878
2469 59-62 GeneOrGeneProduct denotes p62 NCBIGene:8878
2470 63-69 GeneOrGeneProduct denotes SQSTM1 NCBIGene:8878
2471 93-116 DiseaseOrPhenotypicFeature denotes Paget's disease of bone MESH:C538098
2472 156-159 GeneOrGeneProduct denotes p62 NCBIGene:8878
2473 160-174 GeneOrGeneProduct denotes Sequestosome 1 NCBIGene:8878
2474 181-184 GeneOrGeneProduct denotes p62 NCBIGene:8878
2475 185-191 GeneOrGeneProduct denotes SQSTM1 NCBIGene:8878
2476 241-264 DiseaseOrPhenotypicFeature denotes Paget's disease of bone MESH:C538098
2477 266-269 DiseaseOrPhenotypicFeature denotes PDB MESH:C538098
2478 298-343 SequenceVariant denotes methionine-->valine substitution at codon 404 DBSNP:rs771966860
2479 345-350 SequenceVariant denotes M404V DBSNP:rs771966860
2480 406-409 GeneOrGeneProduct denotes p62 NCBIGene:8878
2481 410-416 GeneOrGeneProduct denotes SQSTM1 NCBIGene:8878
2482 436-439 DiseaseOrPhenotypicFeature denotes PDB MESH:C538098
2483 440-447 OrganismTaxon denotes patient NCBITaxon:9606
2484 481-488 OrganismTaxon denotes patient NCBITaxon:9606
2485 541-544 DiseaseOrPhenotypicFeature denotes PDB MESH:C538098
2486 646-651 SequenceVariant denotes M404V DBSNP:rs771966860
2487 682-685 DiseaseOrPhenotypicFeature denotes PDB MESH:C538098
2488 854-857 DiseaseOrPhenotypicFeature denotes PDB MESH:C538098
2489 858-866 OrganismTaxon denotes patients NCBITaxon:9606
2490 991-996 SequenceVariant denotes M404V DBSNP:rs771966860
2491 1044-1047 DiseaseOrPhenotypicFeature denotes PDB MESH:C538098
2492 1060-1067 OrganismTaxon denotes patient NCBITaxon:9606
2493 1134-1153 DiseaseOrPhenotypicFeature denotes polyostotic disease MESH:D005357
2494 1317-1322 SequenceVariant denotes M404V DBSNP:rs771966860
2495 1411-1431 ChemicalEntity denotes alkaline phosphatase MESH:D000469
2496 1572-1577 SequenceVariant denotes M404V DBSNP:rs771966860
2497 1594-1597 GeneOrGeneProduct denotes p62 NCBIGene:8878
2498 1598-1604 GeneOrGeneProduct denotes SQSTM1 NCBIGene:8878
2499 1636-1639 DiseaseOrPhenotypicFeature denotes PDB MESH:C538098
2500 1683-1686 DiseaseOrPhenotypicFeature denotes PDB MESH:C538098
2501 1899-1902 GeneOrGeneProduct denotes p62 NCBIGene:8878
2502 1903-1909 GeneOrGeneProduct denotes SQSTM1 NCBIGene:8878
2503 1963-1966 DiseaseOrPhenotypicFeature denotes PDB MESH:C538098

LitCoin_Mondo

Id Subject Object Predicate Lexical cue mondo_id
T1 93-108 DiseaseOrPhenotypicFeature denotes Paget's disease 0021165
T2 241-256 DiseaseOrPhenotypicFeature denotes Paget's disease 0021165

LitCoin-SeqVar

Id Subject Object Predicate Lexical cue
T1 17-22 SequenceVariant denotes M404V
T2 345-350 SequenceVariant denotes M404V
T3 646-651 SequenceVariant denotes M404V
T4 991-996 SequenceVariant denotes M404V
T5 1317-1322 SequenceVariant denotes M404V
T6 1572-1577 SequenceVariant denotes M404V

LitCoin-GeneOrGeneProduct-v0

Id Subject Object Predicate Lexical cue
T1 23-31 GeneOrGeneProduct denotes mutation
T2 43-57 GeneOrGeneProduct denotes sequestosome 1
T3 63-69 GeneOrGeneProduct denotes SQSTM1
T4 109-116 GeneOrGeneProduct denotes of bone
T5 139-148 GeneOrGeneProduct denotes Mutations
T6 160-174 GeneOrGeneProduct denotes Sequestosome 1
T7 185-191 GeneOrGeneProduct denotes SQSTM1
T8 257-264 GeneOrGeneProduct denotes of bone
T9 370-387 GeneOrGeneProduct denotes ubiquitin protein
T10 388-395 GeneOrGeneProduct denotes binding
T11 410-416 GeneOrGeneProduct denotes SQSTM1
T12 546-555 GeneOrGeneProduct denotes Extension
T13 583-588 GeneOrGeneProduct denotes other
T14 652-660 GeneOrGeneProduct denotes mutation
T15 753-761 GeneOrGeneProduct denotes carriers
T16 771-781 GeneOrGeneProduct denotes mutational
T17 997-1005 GeneOrGeneProduct denotes mutation
T18 1175-1180 GeneOrGeneProduct denotes years
T19 1233-1243 GeneOrGeneProduct denotes mutational
T20 1323-1331 GeneOrGeneProduct denotes mutation
T21 1374-1382 GeneOrGeneProduct denotes carriers
T22 1411-1431 GeneOrGeneProduct denotes alkaline phosphatase
T23 1482-1487 GeneOrGeneProduct denotes range
T24 1578-1586 GeneOrGeneProduct denotes mutation
T25 1598-1604 GeneOrGeneProduct denotes SQSTM1
T26 1605-1615 GeneOrGeneProduct denotes gene and a
T27 1660-1664 GeneOrGeneProduct denotes high
T28 1687-1692 GeneOrGeneProduct denotes trait
T29 1757-1765 GeneOrGeneProduct denotes carriers
T30 1869-1882 GeneOrGeneProduct denotes of mutational
T31 1903-1909 GeneOrGeneProduct denotes SQSTM1
T32 1922-1927 GeneOrGeneProduct denotes early

LitCoin-GeneOrGeneProduct-v2

Id Subject Object Predicate Lexical cue
T1 43-57 GeneOrGeneProduct denotes sequestosome 1
T2 63-69 GeneOrGeneProduct denotes SQSTM1
T3 160-174 GeneOrGeneProduct denotes Sequestosome 1
T4 185-191 GeneOrGeneProduct denotes SQSTM1
T5 370-387 GeneOrGeneProduct denotes ubiquitin protein
T6 388-395 GeneOrGeneProduct denotes binding
T7 410-416 GeneOrGeneProduct denotes SQSTM1
T8 546-555 GeneOrGeneProduct denotes Extension
T9 583-588 GeneOrGeneProduct denotes other
T10 1411-1431 GeneOrGeneProduct denotes alkaline phosphatase
T11 1598-1604 GeneOrGeneProduct denotes SQSTM1
T12 1660-1664 GeneOrGeneProduct denotes high
T13 1903-1909 GeneOrGeneProduct denotes SQSTM1
T14 1922-1927 GeneOrGeneProduct denotes early

LitCoin-Disease-MeSH

Id Subject Object Predicate Lexical cue originalLabel
T1 93-116 DiseaseOrPhenotypicFeature denotes Paget's disease of bone D010001
T2 241-264 DiseaseOrPhenotypicFeature denotes Paget's disease of bone D010001
T3 1146-1153 DiseaseOrPhenotypicFeature denotes disease D004194

LitCoin-GeneOrGeneProduct-v3

Id Subject Object Predicate Lexical cue
T1 43-57 GeneOrGeneProduct denotes sequestosome 1
T2 63-69 GeneOrGeneProduct denotes SQSTM1
T3 160-174 GeneOrGeneProduct denotes Sequestosome 1
T4 185-191 GeneOrGeneProduct denotes SQSTM1
T5 370-387 GeneOrGeneProduct denotes ubiquitin protein
T6 410-416 GeneOrGeneProduct denotes SQSTM1
T7 546-555 GeneOrGeneProduct denotes Extension
T8 1411-1431 GeneOrGeneProduct denotes alkaline phosphatase
T9 1598-1604 GeneOrGeneProduct denotes SQSTM1
T10 1903-1909 GeneOrGeneProduct denotes SQSTM1

LitCoin_Mondo_095

Id Subject Object Predicate Lexical cue mondo_id
T1 93-116 DiseaseOrPhenotypicFeature denotes Paget's disease of bone 0005382
T2 241-264 DiseaseOrPhenotypicFeature denotes Paget's disease of bone 0005382
T3 266-269 DiseaseOrPhenotypicFeature denotes PDB 0005382
T4 436-439 DiseaseOrPhenotypicFeature denotes PDB 0005382
T5 541-544 DiseaseOrPhenotypicFeature denotes PDB 0005382
T6 682-685 DiseaseOrPhenotypicFeature denotes PDB 0005382
T7 854-857 DiseaseOrPhenotypicFeature denotes PDB 0005382
T8 1044-1047 DiseaseOrPhenotypicFeature denotes PDB 0005382
T9 1636-1639 DiseaseOrPhenotypicFeature denotes PDB 0005382
T10 1683-1686 DiseaseOrPhenotypicFeature denotes PDB 0005382
T11 1963-1966 DiseaseOrPhenotypicFeature denotes PDB 0005382

LitCoin-MeSH-Disease-2

Id Subject Object Predicate Lexical cue ID:
T1 93-116 DiseaseOrPhenotypicFeature denotes Paget's disease of bone D010001
T2 241-264 DiseaseOrPhenotypicFeature denotes Paget's disease of bone D010001
T3 266-269 DiseaseOrPhenotypicFeature denotes PDB DISEASE
T4 436-439 DiseaseOrPhenotypicFeature denotes PDB DISEASE
T5 541-544 DiseaseOrPhenotypicFeature denotes PDB DISEASE
T6 682-685 DiseaseOrPhenotypicFeature denotes PDB DISEASE
T7 854-857 DiseaseOrPhenotypicFeature denotes PDB DISEASE
T8 1044-1047 DiseaseOrPhenotypicFeature denotes PDB DISEASE
T9 1146-1153 DiseaseOrPhenotypicFeature denotes disease D004194
T10 1162-1166 DiseaseOrPhenotypicFeature denotes died DISEASE
T11 1636-1639 DiseaseOrPhenotypicFeature denotes PDB DISEASE
T12 1683-1686 DiseaseOrPhenotypicFeature denotes PDB DISEASE
T13 1963-1966 DiseaseOrPhenotypicFeature denotes PDB DISEASE

LitCoin-MONDO_bioort2019

Id Subject Object Predicate Lexical cue #label
T1 93-116 DiseaseOrPhenotypicFeature denotes Paget's disease of bone D010001
T2 241-264 DiseaseOrPhenotypicFeature denotes Paget's disease of bone D010001
T3 266-269 DiseaseOrPhenotypicFeature denotes PDB DISEASE|D010001
T5 436-439 DiseaseOrPhenotypicFeature denotes PDB DISEASE|D010001
T7 541-544 DiseaseOrPhenotypicFeature denotes PDB DISEASE|D010001
T9 682-685 DiseaseOrPhenotypicFeature denotes PDB DISEASE|D010001
T11 854-857 DiseaseOrPhenotypicFeature denotes PDB DISEASE|D010001
T13 1044-1047 DiseaseOrPhenotypicFeature denotes PDB DISEASE|D010001
T15 1162-1166 DiseaseOrPhenotypicFeature denotes died DISEASE
T16 1636-1639 DiseaseOrPhenotypicFeature denotes PDB DISEASE|D010001
T18 1683-1686 DiseaseOrPhenotypicFeature denotes PDB DISEASE|D010001
T20 1963-1966 DiseaseOrPhenotypicFeature denotes PDB DISEASE|D010001

LitCoin-NCBITaxon-2

Id Subject Object Predicate Lexical cue
T1 440-447 OrganismTaxon denotes patient
T2 858-866 OrganismTaxon denotes patients
T3 1060-1067 OrganismTaxon denotes patient
T4 1084-1087 OrganismTaxon denotes ray
T5 1308-1312 OrganismTaxon denotes bear

LitCoin-Chemical-MeSH-CHEBI

Id Subject Object Predicate Lexical cue ID:
T1 298-308 ChemicalEntity denotes methionine http://purl.obolibrary.org/obo/CHEBI_64558|http://purl.obolibrary.org/obo/CHEBI_16811
T3 311-317 ChemicalEntity denotes valine http://purl.obolibrary.org/obo/CHEBI_27266
T4 1411-1431 ChemicalEntity denotes alkaline phosphatase D000469|ChemicalEntity

LitCoin-training-merged

Id Subject Object Predicate Lexical cue #label ID:
T4 1411-1431 ChemicalEntity denotes alkaline phosphatase ChemicalEntity|D000469
T3 311-317 ChemicalEntity denotes valine http://purl.obolibrary.org/obo/CHEBI_27266
T1 298-308 ChemicalEntity denotes methionine http://purl.obolibrary.org/obo/CHEBI_16811|http://purl.obolibrary.org/obo/CHEBI_64558
T10 1903-1909 GeneOrGeneProduct denotes SQSTM1
T9 1598-1604 GeneOrGeneProduct denotes SQSTM1
T8 1411-1431 GeneOrGeneProduct denotes alkaline phosphatase
T7 546-555 GeneOrGeneProduct denotes Extension
T6 410-416 GeneOrGeneProduct denotes SQSTM1
T5 370-387 GeneOrGeneProduct denotes ubiquitin protein
T47673 185-191 GeneOrGeneProduct denotes SQSTM1
T46613 160-174 GeneOrGeneProduct denotes Sequestosome 1
T2 63-69 GeneOrGeneProduct denotes SQSTM1
T93499 43-57 GeneOrGeneProduct denotes sequestosome 1
T20 1963-1966 DiseaseOrPhenotypicFeature denotes PDB D010001|DISEASE
T18 1683-1686 DiseaseOrPhenotypicFeature denotes PDB D010001|DISEASE
T16 1636-1639 DiseaseOrPhenotypicFeature denotes PDB D010001|DISEASE
T15 1162-1166 DiseaseOrPhenotypicFeature denotes died DISEASE
T13 1044-1047 DiseaseOrPhenotypicFeature denotes PDB D010001|DISEASE
T11 854-857 DiseaseOrPhenotypicFeature denotes PDB D010001|DISEASE
T19225 682-685 DiseaseOrPhenotypicFeature denotes PDB D010001|DISEASE
T32643 541-544 DiseaseOrPhenotypicFeature denotes PDB D010001|DISEASE
T82208 436-439 DiseaseOrPhenotypicFeature denotes PDB D010001|DISEASE
T95679 266-269 DiseaseOrPhenotypicFeature denotes PDB D010001|DISEASE
T13884 241-264 DiseaseOrPhenotypicFeature denotes Paget's disease of bone D010001
T22567 93-116 DiseaseOrPhenotypicFeature denotes Paget's disease of bone D010001
T11528 1308-1312 OrganismTaxon denotes bear
T18218 1084-1087 OrganismTaxon denotes ray
T31363 1060-1067 OrganismTaxon denotes patient
T69782 858-866 OrganismTaxon denotes patients
T77716 440-447 OrganismTaxon denotes patient
T63075 1572-1577 SequenceVariant denotes M404V
T35787 1317-1322 SequenceVariant denotes M404V
T70612 991-996 SequenceVariant denotes M404V
T89286 646-651 SequenceVariant denotes M404V
T50198 345-350 SequenceVariant denotes M404V
T30023 17-22 SequenceVariant denotes M404V

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
16277682-0#17#22#geners771966860 17-22 geners771966860 denotes M404V
16277682-0#93#116#diseaseC0029401 93-116 diseaseC0029401 denotes Paget's disease of bone
17#22#geners77196686093#116#diseaseC0029401 16277682-0#17#22#geners771966860 16277682-0#93#116#diseaseC0029401 associated_with M404V,Paget's disease of bone

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
16277682-9#247#253#gene8878 1903-1909 gene8878 denotes SQSTM1
16277682-9#27#30#diseaseC0029401 1683-1686 diseaseC0029401 denotes PDB
16277682-9#307#310#diseaseC0029401 1963-1966 diseaseC0029401 denotes PDB
247#253#gene887827#30#diseaseC0029401 16277682-9#247#253#gene8878 16277682-9#27#30#diseaseC0029401 associated_with SQSTM1,PDB
247#253#gene8878307#310#diseaseC0029401 16277682-9#247#253#gene8878 16277682-9#307#310#diseaseC0029401 associated_with SQSTM1,PDB

tmVarCorpus

Id Subject Object Predicate Lexical cue
T1 17-22 ProteinMutation:p|SUB|M|404|V denotes M404V
T2 298-343 ProteinMutation:p|SUB|M|404|V denotes methionine-->valine substitution at codon 404
T3 345-350 ProteinMutation:p|SUB|M|404|V denotes M404V
T4 646-651 ProteinMutation:p|SUB|M|404|V denotes M404V
T5 991-996 ProteinMutation:p|SUB|M|404|V denotes M404V
T6 1317-1322 ProteinMutation:p|SUB|M|404|V denotes M404V
T7 1572-1577 ProteinMutation:p|SUB|M|404|V denotes M404V