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PubMed:19101703 JSONTXT

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LitCoin-sentences

Id Subject Object Predicate Lexical cue
T1 0-68 Sentence denotes Study of a Taiwanese family with oculopharyngeal muscular dystrophy.
T2 69-80 Sentence denotes BACKGROUND:
T3 81-174 Sentence denotes Oculopharyngeal muscular dystrophy (OPMD) is a late onset autosomal dominant muscle disorder.
T4 175-332 Sentence denotes OPMD is caused by a short trinucleotide repeat expansion encoding an expanded polyalanine tract in the polyadenylate binding-protein nuclear 1 (PABPN1) gene.
T5 333-415 Sentence denotes We identified and characterized a PABPN1 mutation in a Taiwanese family with OPMD.
T6 416-424 Sentence denotes METHODS:
T7 425-528 Sentence denotes The phenotypic and genotypic characteristics of all subjects were evaluated in a Taiwanese OPMD family.
T8 529-613 Sentence denotes Genetic alterations in the PABPN1 gene were identified using PCR and DNA sequencing.
T9 614-622 Sentence denotes RESULTS:
T10 623-753 Sentence denotes Ten subjects with OPMD (6 symptomatic and 4 asymptomatic) within the Taiwanese family carried a novel mutation in the PABPN1 gene.
T11 754-920 Sentence denotes The normal (GCG)6(GCA)3GCG sequence was replaced by (GCG)6(GCA)(GCG)4(GCA)3GCG due to an insertion of (GCG)4GCA into the normal allele in the Taiwanese OPMD subjects.
T12 921-933 Sentence denotes CONCLUSIONS:
T13 934-1102 Sentence denotes In contrast to a single GCG expansion in most of OPMD patients in the literature, an insertion of (GCG)4GCA in the PABPN1 gene was found in the Taiwanese OPMD subjects.
T14 1103-1226 Sentence denotes The identification of this mutation appears to support the molecular mechanism of unequal cross-over of two PABPN1 alleles.

LitCoin-entities

Id Subject Object Predicate Lexical cue db_id
5651 33-67 DiseaseOrPhenotypicFeature denotes oculopharyngeal muscular dystrophy MESH:D039141
5652 81-115 DiseaseOrPhenotypicFeature denotes Oculopharyngeal muscular dystrophy MESH:D039141
5653 117-121 DiseaseOrPhenotypicFeature denotes OPMD MESH:D039141
5654 139-173 DiseaseOrPhenotypicFeature denotes autosomal dominant muscle disorder MESH:D030342
5655 175-179 DiseaseOrPhenotypicFeature denotes OPMD MESH:D039141
5656 253-264 ChemicalEntity denotes polyalanine MESH:C019529
5657 278-317 GeneOrGeneProduct denotes polyadenylate binding-protein nuclear 1 NCBIGene:8106
5658 319-325 GeneOrGeneProduct denotes PABPN1 NCBIGene:8106
5659 367-373 GeneOrGeneProduct denotes PABPN1 NCBIGene:8106
5660 410-414 DiseaseOrPhenotypicFeature denotes OPMD MESH:D039141
5661 516-520 DiseaseOrPhenotypicFeature denotes OPMD MESH:D039141
5662 556-562 GeneOrGeneProduct denotes PABPN1 NCBIGene:8106
5663 641-645 DiseaseOrPhenotypicFeature denotes OPMD MESH:D039141
5664 741-747 GeneOrGeneProduct denotes PABPN1 NCBIGene:8106
5665 765-832 SequenceVariant denotes (GCG)6(GCA)3GCG sequence was replaced by (GCG)6(GCA)(GCG)4(GCA)3GCG c|SUB|(GCG)6(GCA)3GCG||(GCG)6(GCA)(GCG)4(GCA)3GCG
5666 843-865 SequenceVariant denotes insertion of (GCG)4GCA c|INS|(GCG)4GCA
5667 906-910 DiseaseOrPhenotypicFeature denotes OPMD MESH:D039141
5668 983-987 DiseaseOrPhenotypicFeature denotes OPMD MESH:D039141
5669 988-996 OrganismTaxon denotes patients NCBITaxon:9606
5670 1019-1041 SequenceVariant denotes insertion of (GCG)4GCA c|INS|(GCG)4GCA
5671 1049-1055 GeneOrGeneProduct denotes PABPN1 NCBIGene:8106
5672 1088-1092 DiseaseOrPhenotypicFeature denotes OPMD MESH:D039141
5673 1211-1217 GeneOrGeneProduct denotes PABPN1 NCBIGene:8106

LitCoin_Mondo

Id Subject Object Predicate Lexical cue mondo_id
T1 33-67 DiseaseOrPhenotypicFeature denotes oculopharyngeal muscular dystrophy 0008116
T2 49-67 DiseaseOrPhenotypicFeature denotes muscular dystrophy 0020121
T3 81-115 DiseaseOrPhenotypicFeature denotes Oculopharyngeal muscular dystrophy 0008116
T4 97-115 DiseaseOrPhenotypicFeature denotes muscular dystrophy 0020121

LitCoin-GeneOrGeneProduct-v2

Id Subject Object Predicate Lexical cue
T1 117-121 GeneOrGeneProduct denotes OPMD
T2 158-164 GeneOrGeneProduct denotes muscle
T3 175-179 GeneOrGeneProduct denotes OPMD
T4 222-231 GeneOrGeneProduct denotes expansion
T5 244-252 GeneOrGeneProduct denotes expanded
T6 292-299 GeneOrGeneProduct denotes binding
T7 300-307 GeneOrGeneProduct denotes protein
T8 319-325 GeneOrGeneProduct denotes PABPN1
T9 367-373 GeneOrGeneProduct denotes PABPN1
T10 410-414 GeneOrGeneProduct denotes OPMD
T11 516-520 GeneOrGeneProduct denotes OPMD
T12 556-562 GeneOrGeneProduct denotes PABPN1
T13 641-645 GeneOrGeneProduct denotes OPMD
T14 719-724 GeneOrGeneProduct denotes novel
T15 741-747 GeneOrGeneProduct denotes PABPN1
T16 766-769 GeneOrGeneProduct denotes GCG
T17 772-775 GeneOrGeneProduct denotes GCA
T18 807-810 GeneOrGeneProduct denotes GCG
T19 813-816 GeneOrGeneProduct denotes GCA
T20 818-821 GeneOrGeneProduct denotes GCG
T21 824-827 GeneOrGeneProduct denotes GCA
T22 857-860 GeneOrGeneProduct denotes GCG
T23 906-910 GeneOrGeneProduct denotes OPMD
T24 958-961 GeneOrGeneProduct denotes GCG
T25 962-971 GeneOrGeneProduct denotes expansion
T26 983-987 GeneOrGeneProduct denotes OPMD
T27 1033-1036 GeneOrGeneProduct denotes GCG
T28 1049-1055 GeneOrGeneProduct denotes PABPN1
T29 1088-1092 GeneOrGeneProduct denotes OPMD
T30 1211-1217 GeneOrGeneProduct denotes PABPN1

LitCoin-GeneOrGeneProduct-v0

Id Subject Object Predicate Lexical cue
T1 117-121 GeneOrGeneProduct denotes OPMD
T2 128-132 GeneOrGeneProduct denotes late
T3 158-164 GeneOrGeneProduct denotes muscle
T4 175-179 GeneOrGeneProduct denotes OPMD
T5 222-231 GeneOrGeneProduct denotes expansion
T6 244-252 GeneOrGeneProduct denotes expanded
T7 292-299 GeneOrGeneProduct denotes binding
T8 300-307 GeneOrGeneProduct denotes protein
T9 319-325 GeneOrGeneProduct denotes PABPN1
T10 367-373 GeneOrGeneProduct denotes PABPN1
T11 374-382 GeneOrGeneProduct denotes mutation
T12 410-414 GeneOrGeneProduct denotes OPMD
T13 416-423 GeneOrGeneProduct denotes METHODS
T14 473-476 GeneOrGeneProduct denotes all
T15 501-505 GeneOrGeneProduct denotes in a
T16 516-520 GeneOrGeneProduct denotes OPMD
T17 556-562 GeneOrGeneProduct denotes PABPN1
T18 641-645 GeneOrGeneProduct denotes OPMD
T19 661-666 GeneOrGeneProduct denotes and 4
T20 719-724 GeneOrGeneProduct denotes novel
T21 725-733 GeneOrGeneProduct denotes mutation
T22 741-747 GeneOrGeneProduct denotes PABPN1
T23 766-769 GeneOrGeneProduct denotes GCG
T24 772-775 GeneOrGeneProduct denotes GCA
T25 807-810 GeneOrGeneProduct denotes GCG
T26 813-816 GeneOrGeneProduct denotes GCA
T27 818-821 GeneOrGeneProduct denotes GCG
T28 824-827 GeneOrGeneProduct denotes GCA
T29 857-860 GeneOrGeneProduct denotes GCG
T30 906-910 GeneOrGeneProduct denotes OPMD
T31 937-945 GeneOrGeneProduct denotes contrast
T32 958-961 GeneOrGeneProduct denotes GCG
T33 962-971 GeneOrGeneProduct denotes expansion
T34 983-987 GeneOrGeneProduct denotes OPMD
T35 1033-1036 GeneOrGeneProduct denotes GCG
T36 1049-1055 GeneOrGeneProduct denotes PABPN1
T37 1088-1092 GeneOrGeneProduct denotes OPMD
T38 1130-1138 GeneOrGeneProduct denotes mutation
T39 1211-1217 GeneOrGeneProduct denotes PABPN1

LitCoin-Disease-MeSH

Id Subject Object Predicate Lexical cue originalLabel
T1 33-67 DiseaseOrPhenotypicFeature denotes oculopharyngeal muscular dystrophy D039141
T2 81-115 DiseaseOrPhenotypicFeature denotes Oculopharyngeal muscular dystrophy D039141
T3 117-121 DiseaseOrPhenotypicFeature denotes OPMD D039141
T4 158-173 DiseaseOrPhenotypicFeature denotes muscle disorder D009135
T5 175-179 DiseaseOrPhenotypicFeature denotes OPMD D039141
T6 410-414 DiseaseOrPhenotypicFeature denotes OPMD D039141
T7 516-520 DiseaseOrPhenotypicFeature denotes OPMD D039141
T8 641-645 DiseaseOrPhenotypicFeature denotes OPMD D039141
T9 906-910 DiseaseOrPhenotypicFeature denotes OPMD D039141
T10 983-987 DiseaseOrPhenotypicFeature denotes OPMD D039141
T11 1088-1092 DiseaseOrPhenotypicFeature denotes OPMD D039141

LitCoin-GeneOrGeneProduct-v3

Id Subject Object Predicate Lexical cue
T1 222-231 GeneOrGeneProduct denotes expansion
T2 278-307 GeneOrGeneProduct denotes polyadenylate binding-protein
T3 319-325 GeneOrGeneProduct denotes PABPN1
T4 367-373 GeneOrGeneProduct denotes PABPN1
T5 556-562 GeneOrGeneProduct denotes PABPN1
T6 741-747 GeneOrGeneProduct denotes PABPN1
T7 766-769 GeneOrGeneProduct denotes GCG
T8 772-775 GeneOrGeneProduct denotes GCA
T9 807-810 GeneOrGeneProduct denotes GCG
T10 813-816 GeneOrGeneProduct denotes GCA
T11 818-821 GeneOrGeneProduct denotes GCG
T12 824-827 GeneOrGeneProduct denotes GCA
T13 857-860 GeneOrGeneProduct denotes GCG
T14 958-961 GeneOrGeneProduct denotes GCG
T15 962-971 GeneOrGeneProduct denotes expansion
T16 1033-1036 GeneOrGeneProduct denotes GCG
T17 1049-1055 GeneOrGeneProduct denotes PABPN1
T18 1211-1217 GeneOrGeneProduct denotes PABPN1

LitCoin_Mondo_095

Id Subject Object Predicate Lexical cue mondo_id
T1 33-67 DiseaseOrPhenotypicFeature denotes oculopharyngeal muscular dystrophy 0008116
T2 81-115 DiseaseOrPhenotypicFeature denotes Oculopharyngeal muscular dystrophy 0008116
T3 117-121 DiseaseOrPhenotypicFeature denotes OPMD 0008116
T4 175-179 DiseaseOrPhenotypicFeature denotes OPMD 0008116
T5 410-414 DiseaseOrPhenotypicFeature denotes OPMD 0008116
T6 516-520 DiseaseOrPhenotypicFeature denotes OPMD 0008116
T7 641-645 DiseaseOrPhenotypicFeature denotes OPMD 0008116
T8 766-769 DiseaseOrPhenotypicFeature denotes GCG 0008538
T9 772-775 DiseaseOrPhenotypicFeature denotes GCA 0008538
T10 807-810 DiseaseOrPhenotypicFeature denotes GCG 0008538
T11 813-816 DiseaseOrPhenotypicFeature denotes GCA 0008538
T12 818-821 DiseaseOrPhenotypicFeature denotes GCG 0008538
T13 824-827 DiseaseOrPhenotypicFeature denotes GCA 0008538
T14 857-860 DiseaseOrPhenotypicFeature denotes GCG 0008538
T15 906-910 DiseaseOrPhenotypicFeature denotes OPMD 0008116
T16 958-961 DiseaseOrPhenotypicFeature denotes GCG 0008538
T17 983-987 DiseaseOrPhenotypicFeature denotes OPMD 0008116
T18 1033-1036 DiseaseOrPhenotypicFeature denotes GCG 0008538
T19 1088-1092 DiseaseOrPhenotypicFeature denotes OPMD 0008116

LitCoin-MeSH-Disease-2

Id Subject Object Predicate Lexical cue ID:
T1 33-67 DiseaseOrPhenotypicFeature denotes oculopharyngeal muscular dystrophy D039141
T2 81-115 DiseaseOrPhenotypicFeature denotes Oculopharyngeal muscular dystrophy D039141
T3 117-121 DiseaseOrPhenotypicFeature denotes OPMD D039141
T4 158-173 DiseaseOrPhenotypicFeature denotes muscle disorder D009135
T5 175-179 DiseaseOrPhenotypicFeature denotes OPMD D039141
T6 410-414 DiseaseOrPhenotypicFeature denotes OPMD D039141
T7 516-520 DiseaseOrPhenotypicFeature denotes OPMD D039141
T8 641-645 DiseaseOrPhenotypicFeature denotes OPMD D039141
T9 906-910 DiseaseOrPhenotypicFeature denotes OPMD D039141
T10 983-987 DiseaseOrPhenotypicFeature denotes OPMD D039141
T11 1088-1092 DiseaseOrPhenotypicFeature denotes OPMD D039141

LitCoin-MONDO_bioort2019

Id Subject Object Predicate Lexical cue #label
T1 33-67 DiseaseOrPhenotypicFeature denotes oculopharyngeal muscular dystrophy D039141
T2 81-115 DiseaseOrPhenotypicFeature denotes Oculopharyngeal muscular dystrophy D039141
T3 117-121 DiseaseOrPhenotypicFeature denotes OPMD D039141
T4 158-173 DiseaseOrPhenotypicFeature denotes muscle disorder D009135
T5 175-179 DiseaseOrPhenotypicFeature denotes OPMD D039141
T6 410-414 DiseaseOrPhenotypicFeature denotes OPMD D039141
T7 516-520 DiseaseOrPhenotypicFeature denotes OPMD D039141
T8 641-645 DiseaseOrPhenotypicFeature denotes OPMD D039141
T9 906-910 DiseaseOrPhenotypicFeature denotes OPMD D039141
T10 983-987 DiseaseOrPhenotypicFeature denotes OPMD D039141
T11 1088-1092 DiseaseOrPhenotypicFeature denotes OPMD D039141

LitCoin-Chemical-MeSH-CHEBI

Id Subject Object Predicate Lexical cue ID:
T1 253-264 ChemicalEntity denotes polyalanine ChemicalEntity
T2 766-769 ChemicalEntity denotes GCG http://purl.obolibrary.org/obo/CHEBI_139037
T3 772-775 ChemicalEntity denotes GCA http://purl.obolibrary.org/obo/CHEBI_139037
T4 807-810 ChemicalEntity denotes GCG http://purl.obolibrary.org/obo/CHEBI_139037
T5 813-816 ChemicalEntity denotes GCA http://purl.obolibrary.org/obo/CHEBI_139037
T6 818-821 ChemicalEntity denotes GCG http://purl.obolibrary.org/obo/CHEBI_139037
T7 824-827 ChemicalEntity denotes GCA http://purl.obolibrary.org/obo/CHEBI_139037
T8 857-860 ChemicalEntity denotes GCG http://purl.obolibrary.org/obo/CHEBI_139037
T9 958-961 ChemicalEntity denotes GCG http://purl.obolibrary.org/obo/CHEBI_139037
T10 1033-1036 ChemicalEntity denotes GCG http://purl.obolibrary.org/obo/CHEBI_139037

LitCoin-NCBITaxon-2

Id Subject Object Predicate Lexical cue
T1 988-996 OrganismTaxon denotes patients

LitCoin-training-merged

Id Subject Object Predicate Lexical cue #label ID:
T10 1033-1036 ChemicalEntity denotes GCG http://purl.obolibrary.org/obo/CHEBI_139037
T9 958-961 ChemicalEntity denotes GCG http://purl.obolibrary.org/obo/CHEBI_139037
T8 857-860 ChemicalEntity denotes GCG http://purl.obolibrary.org/obo/CHEBI_139037
T7 824-827 ChemicalEntity denotes GCA http://purl.obolibrary.org/obo/CHEBI_139037
T6 818-821 ChemicalEntity denotes GCG http://purl.obolibrary.org/obo/CHEBI_139037
T5 813-816 ChemicalEntity denotes GCA http://purl.obolibrary.org/obo/CHEBI_139037
T4 807-810 ChemicalEntity denotes GCG http://purl.obolibrary.org/obo/CHEBI_139037
T3 772-775 ChemicalEntity denotes GCA http://purl.obolibrary.org/obo/CHEBI_139037
T2 766-769 ChemicalEntity denotes GCG http://purl.obolibrary.org/obo/CHEBI_139037
T1 253-264 ChemicalEntity denotes polyalanine ChemicalEntity
T18 1211-1217 GeneOrGeneProduct denotes PABPN1
T17 1049-1055 GeneOrGeneProduct denotes PABPN1
T16 1033-1036 GeneOrGeneProduct denotes GCG
T15 962-971 GeneOrGeneProduct denotes expansion
T14 958-961 GeneOrGeneProduct denotes GCG
T13 857-860 GeneOrGeneProduct denotes GCG
T12 824-827 GeneOrGeneProduct denotes GCA
T11 818-821 GeneOrGeneProduct denotes GCG
T55060 813-816 GeneOrGeneProduct denotes GCA
T4853 807-810 GeneOrGeneProduct denotes GCG
T94888 772-775 GeneOrGeneProduct denotes GCA
T72129 766-769 GeneOrGeneProduct denotes GCG
T87175 741-747 GeneOrGeneProduct denotes PABPN1
T82366 556-562 GeneOrGeneProduct denotes PABPN1
T30765 367-373 GeneOrGeneProduct denotes PABPN1
T87026 319-325 GeneOrGeneProduct denotes PABPN1
T48171 278-307 GeneOrGeneProduct denotes polyadenylate binding-protein
T56816 222-231 GeneOrGeneProduct denotes expansion
T7641 1088-1092 DiseaseOrPhenotypicFeature denotes OPMD D039141
T73620 983-987 DiseaseOrPhenotypicFeature denotes OPMD D039141
T16926 906-910 DiseaseOrPhenotypicFeature denotes OPMD D039141
T17787 641-645 DiseaseOrPhenotypicFeature denotes OPMD D039141
T2903 516-520 DiseaseOrPhenotypicFeature denotes OPMD D039141
T22738 410-414 DiseaseOrPhenotypicFeature denotes OPMD D039141
T44216 175-179 DiseaseOrPhenotypicFeature denotes OPMD D039141
T63209 158-173 DiseaseOrPhenotypicFeature denotes muscle disorder D009135
T94756 117-121 DiseaseOrPhenotypicFeature denotes OPMD D039141
T24740 81-115 DiseaseOrPhenotypicFeature denotes Oculopharyngeal muscular dystrophy D039141
T31359 33-67 DiseaseOrPhenotypicFeature denotes oculopharyngeal muscular dystrophy D039141
T38720 988-996 OrganismTaxon denotes patients

DisGeNET

Id Subject Object Predicate Lexical cue
T0 741-747 gene:8106 denotes PABPN1
T1 641-645 disease:C0270952 denotes OPMD
R1 T0 T1 associated_with PABPN1,OPMD

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
19101703-6#118#124#gene8106 741-747 gene8106 denotes PABPN1
19101703-6#18#22#diseaseC0270952 641-645 diseaseC0270952 denotes OPMD
118#124#gene810618#22#diseaseC0270952 19101703-6#118#124#gene8106 19101703-6#18#22#diseaseC0270952 associated_with PABPN1,OPMD