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PubMed:15807692 JSONTXT

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LitCoin-entities-OrganismTaxon-PD

Id Subject Object Predicate Lexical cue db_id
T1 542-547 OrganismTaxon denotes codon NCBItxid:79338

LitCoin-sentences

Id Subject Object Predicate Lexical cue
T1 0-120 Sentence denotes Identification of novel type VII collagen gene mutations resulting in severe recessive dystrophic epidermolysis bullosa.
T2 121-376 Sentence denotes In this work, we studied the proband in a small nuclear family of Chinese and Dutch/German descent and identified two novel mutations in the type VII collagen gene leading to recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens variant (HS-RDEB).
T3 377-620 Sentence denotes The maternal mutation is a single base pair deletion of a cytosine nucleotide in exon 26, designated 3472delC, resulting in a frameshift and a premature termination codon (PTC) within the same exon, 7 bp downstream of the site of the mutation.
T4 621-745 Sentence denotes The paternal mutation is a G-->A transition located at the 5' donor splice site within intron 51, designated IVS51 + 1G-->A.
T5 746-965 Sentence denotes This mutation leads to the activation of a cryptic splice site, 32 bp downstream of the mutation site and to subsequent aberrant out-of-frame splicing, resulting in two alternative mRNA transcripts and a downstream PTC.
T6 966-1038 Sentence denotes To our knowledge, these two mutations have not been previously reported.
T7 1039-1197 Sentence denotes These findings extend the body of evidence for compound heterozygous mutations leading to HS-RDEB and provide the basis for prenatal diagnosis in this family.

LitCoin-entities

Id Subject Object Predicate Lexical cue db_id
1646 29-41 GeneOrGeneProduct denotes VII collagen NCBIGene:1294
1647 77-119 DiseaseOrPhenotypicFeature denotes recessive dystrophic epidermolysis bullosa MESH:D016108
1648 267-279 GeneOrGeneProduct denotes VII collagen NCBIGene:1294
1649 296-338 DiseaseOrPhenotypicFeature denotes recessive dystrophic epidermolysis bullosa MESH:D016108
1650 340-357 DiseaseOrPhenotypicFeature denotes Hallopeau-Siemens MESH:D016108
1651 367-374 DiseaseOrPhenotypicFeature denotes HS-RDEB MESH:D016108
1652 404-454 SequenceVariant denotes single base pair deletion of a cytosine nucleotide c|DEL||C
1653 478-486 SequenceVariant denotes 3472delC c|DEL|3472|C
1654 648-653 SequenceVariant denotes G-->A c|SUB|G||A
1655 730-744 SequenceVariant denotes IVS51 + 1G-->A c|SUB|G|IVS51+1|A
1656 1129-1136 DiseaseOrPhenotypicFeature denotes HS-RDEB MESH:D016108

LitCoin_Mondo

Id Subject Object Predicate Lexical cue mondo_id
T1 77-119 DiseaseOrPhenotypicFeature denotes recessive dystrophic epidermolysis bullosa 0009179
T2 87-119 DiseaseOrPhenotypicFeature denotes dystrophic epidermolysis bullosa 0017608
T3 98-119 DiseaseOrPhenotypicFeature denotes epidermolysis bullosa 0006541
T4 296-338 DiseaseOrPhenotypicFeature denotes recessive dystrophic epidermolysis bullosa 0009179
T5 306-338 DiseaseOrPhenotypicFeature denotes dystrophic epidermolysis bullosa 0017608
T6 317-338 DiseaseOrPhenotypicFeature denotes epidermolysis bullosa 0006541

LitCoin-SeqVar

Id Subject Object Predicate Lexical cue
T1 421-434 SequenceVariant denotes deletion of a
T2 478-486 SequenceVariant denotes 3472delC
T3 648-653 SequenceVariant denotes G-->A

LitCoin-GeneOrGeneProduct-v0

Id Subject Object Predicate Lexical cue
T1 18-23 GeneOrGeneProduct denotes novel
T2 24-41 GeneOrGeneProduct denotes type VII collagen
T3 47-56 GeneOrGeneProduct denotes mutations
T4 158-162 GeneOrGeneProduct denotes in a
T5 163-168 GeneOrGeneProduct denotes small
T6 239-244 GeneOrGeneProduct denotes novel
T7 245-254 GeneOrGeneProduct denotes mutations
T8 262-279 GeneOrGeneProduct denotes type VII collagen
T9 390-398 GeneOrGeneProduct denotes mutation
T10 411-415 GeneOrGeneProduct denotes base
T11 416-420 GeneOrGeneProduct denotes pair
T12 498-502 GeneOrGeneProduct denotes in a
T13 611-619 GeneOrGeneProduct denotes mutation
T14 634-642 GeneOrGeneProduct denotes mutation
T15 689-695 GeneOrGeneProduct denotes splice
T16 751-759 GeneOrGeneProduct denotes mutation
T17 773-783 GeneOrGeneProduct denotes activation
T18 789-796 GeneOrGeneProduct denotes cryptic
T19 797-803 GeneOrGeneProduct denotes splice
T20 834-842 GeneOrGeneProduct denotes mutation
T21 875-878 GeneOrGeneProduct denotes out
T22 888-896 GeneOrGeneProduct denotes splicing
T23 927-931 GeneOrGeneProduct denotes mRNA
T24 932-943 GeneOrGeneProduct denotes transcripts
T25 994-1003 GeneOrGeneProduct denotes mutations
T26 1045-1053 GeneOrGeneProduct denotes findings
T27 1054-1060 GeneOrGeneProduct denotes extend
T28 1108-1117 GeneOrGeneProduct denotes mutations
T29 1153-1158 GeneOrGeneProduct denotes basis

LitCoin-GeneOrGeneProduct-v2

Id Subject Object Predicate Lexical cue
T1 18-23 GeneOrGeneProduct denotes novel
T2 24-41 GeneOrGeneProduct denotes type VII collagen
T3 163-168 GeneOrGeneProduct denotes small
T4 239-244 GeneOrGeneProduct denotes novel
T5 262-279 GeneOrGeneProduct denotes type VII collagen
T6 789-796 GeneOrGeneProduct denotes cryptic
T7 927-931 GeneOrGeneProduct denotes mRNA
T8 1054-1060 GeneOrGeneProduct denotes extend

LitCoin-Disease-MeSH

Id Subject Object Predicate Lexical cue originalLabel
T1 87-119 DiseaseOrPhenotypicFeature denotes dystrophic epidermolysis bullosa D016108
T2 306-338 DiseaseOrPhenotypicFeature denotes dystrophic epidermolysis bullosa D016108

LitCoin-GeneOrGeneProduct-v3

Id Subject Object Predicate Lexical cue
T1 24-41 GeneOrGeneProduct denotes type VII collagen
T2 262-279 GeneOrGeneProduct denotes type VII collagen

LitCoin_Mondo_095

Id Subject Object Predicate Lexical cue mondo_id
T1 77-119 DiseaseOrPhenotypicFeature denotes recessive dystrophic epidermolysis bullosa 0009179
T2 296-338 DiseaseOrPhenotypicFeature denotes recessive dystrophic epidermolysis bullosa 0009179
T3 367-369 DiseaseOrPhenotypicFeature denotes HS 0019395
T4 370-374 DiseaseOrPhenotypicFeature denotes RDEB 0009179
T5 1129-1131 DiseaseOrPhenotypicFeature denotes HS 0019395
T6 1132-1136 DiseaseOrPhenotypicFeature denotes RDEB 0009179

LitCoin-MeSH-Disease-2

Id Subject Object Predicate Lexical cue ID:
T1 87-119 DiseaseOrPhenotypicFeature denotes dystrophic epidermolysis bullosa D016108
T2 306-338 DiseaseOrPhenotypicFeature denotes dystrophic epidermolysis bullosa D016108
T3 340-357 DiseaseOrPhenotypicFeature denotes Hallopeau-Siemens DISEASE
T4 367-374 DiseaseOrPhenotypicFeature denotes HS-RDEB DISEASE
T5 1129-1136 DiseaseOrPhenotypicFeature denotes HS-RDEB DISEASE

LitCoin-MONDO_bioort2019

Id Subject Object Predicate Lexical cue #label
T1 87-119 DiseaseOrPhenotypicFeature denotes dystrophic epidermolysis bullosa D016108
T2 306-338 DiseaseOrPhenotypicFeature denotes dystrophic epidermolysis bullosa D016108
T3 340-357 DiseaseOrPhenotypicFeature denotes Hallopeau-Siemens DISEASE
T4 367-374 DiseaseOrPhenotypicFeature denotes HS-RDEB DISEASE
T5 1129-1136 DiseaseOrPhenotypicFeature denotes HS-RDEB DISEASE

LitCoin-Chemical-MeSH-CHEBI

Id Subject Object Predicate Lexical cue ID:
T1 33-41 ChemicalEntity denotes collagen http://purl.obolibrary.org/obo/CHEBI_3815
T2 271-279 ChemicalEntity denotes collagen http://purl.obolibrary.org/obo/CHEBI_3815
T3 435-443 ChemicalEntity denotes cytosine D003596|http://purl.obolibrary.org/obo/CHEBI_16040
T5 549-552 ChemicalEntity denotes PTC http://purl.obolibrary.org/obo/CHEBI_46261
T6 961-964 ChemicalEntity denotes PTC http://purl.obolibrary.org/obo/CHEBI_46261

LitCoin-training-merged

Id Subject Object Predicate Lexical cue #label ID:
T6 961-964 ChemicalEntity denotes PTC http://purl.obolibrary.org/obo/CHEBI_46261
T5 549-552 ChemicalEntity denotes PTC http://purl.obolibrary.org/obo/CHEBI_46261
T3 435-443 ChemicalEntity denotes cytosine http://purl.obolibrary.org/obo/CHEBI_16040|D003596
T2 271-279 ChemicalEntity denotes collagen http://purl.obolibrary.org/obo/CHEBI_3815
T1 33-41 ChemicalEntity denotes collagen http://purl.obolibrary.org/obo/CHEBI_3815
T88548 262-279 GeneOrGeneProduct denotes type VII collagen
T5300 24-41 GeneOrGeneProduct denotes type VII collagen
T48162 1129-1136 DiseaseOrPhenotypicFeature denotes HS-RDEB DISEASE
T4 367-374 DiseaseOrPhenotypicFeature denotes HS-RDEB DISEASE
T81576 340-357 DiseaseOrPhenotypicFeature denotes Hallopeau-Siemens DISEASE
T58321 306-338 DiseaseOrPhenotypicFeature denotes dystrophic epidermolysis bullosa D016108
T9945 87-119 DiseaseOrPhenotypicFeature denotes dystrophic epidermolysis bullosa D016108
T14039 648-653 SequenceVariant denotes G-->A
T77365 478-486 SequenceVariant denotes 3472delC
T51116 421-434 SequenceVariant denotes deletion of a

tmVarCorpus

Id Subject Object Predicate Lexical cue
T1 478-486 DNAMutation:c|DEL|3472|C denotes 3472delC
T2 648-653 DNAMutation:|SUB|G||A denotes G-->A
T3 730-744 DNAMutation:c|SUB|G|IVS51+1|A denotes IVS51 + 1G-->A