PubMed:15064320 / 1181-1331 JSONTXT

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    PubTator4TogoVar

    {"project":"PubTator4TogoVar","denotations":[{"id":"15064320_2","span":{"begin":22,"end":27},"obj":"ProteinMutation"}],"attributes":[{"id":"15064320_2_ProteinMutation","pred":"proteinmutation","subj":"15064320_2","obj":"rs9332964"}],"text":"The patient showed an R227Q mutation that has been described in an Asian population and MPH patients, along with a novel frameshift mutation, Tdel219."}

    LitCoin-entities

    {"project":"LitCoin-entities","denotations":[{"id":"646","span":{"begin":4,"end":11},"obj":"OrganismTaxon"},{"id":"647","span":{"begin":22,"end":27},"obj":"SequenceVariant"},{"id":"648","span":{"begin":88,"end":91},"obj":"DiseaseOrPhenotypicFeature"},{"id":"649","span":{"begin":92,"end":100},"obj":"OrganismTaxon"},{"id":"650","span":{"begin":142,"end":149},"obj":"SequenceVariant"}],"attributes":[{"id":"A27","pred":"db_id","subj":"646","obj":"NCBITaxon:9606"},{"id":"A28","pred":"db_id","subj":"647","obj":"DBSNP:rs9332964"},{"id":"A29","pred":"db_id","subj":"648","obj":"MESH:D058490"},{"id":"A30","pred":"db_id","subj":"649","obj":"NCBITaxon:9606"},{"id":"A31","pred":"db_id","subj":"650","obj":"c|DEL|CODON219|T"}],"namespaces":[{"prefix":"_base","uri":"https://w3id.org/biolink/vocab/"},{"prefix":"MESH","uri":"http://id.nlm.nih.gov/mesh/"},{"prefix":"NCBITaxon","uri":"https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id="},{"prefix":"NCBIGene","uri":"https://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"OMIM","uri":"https://www.omim.org/entry/"},{"prefix":"DBSNP","uri":"https://www.ncbi.nlm.nih.gov/snp/"}],"text":"The patient showed an R227Q mutation that has been described in an Asian population and MPH patients, along with a novel frameshift mutation, Tdel219."}

    LitCoin-sentences

    {"project":"LitCoin-sentences","denotations":[{"id":"T10","span":{"begin":0,"end":150},"obj":"Sentence"}],"text":"The patient showed an R227Q mutation that has been described in an Asian population and MPH patients, along with a novel frameshift mutation, Tdel219."}

    LitCoin-SeqVar

    {"project":"LitCoin-SeqVar","denotations":[{"id":"T2","span":{"begin":22,"end":27},"obj":"SequenceVariant"},{"id":"T3","span":{"begin":142,"end":149},"obj":"SequenceVariant"}],"text":"The patient showed an R227Q mutation that has been described in an Asian population and MPH patients, along with a novel frameshift mutation, Tdel219."}

    LitCoin-GeneOrGeneProduct-v0

    {"project":"LitCoin-GeneOrGeneProduct-v0","denotations":[{"id":"T34","span":{"begin":28,"end":41},"obj":"GeneOrGeneProduct"},{"id":"T35","span":{"begin":115,"end":120},"obj":"GeneOrGeneProduct"},{"id":"T36","span":{"begin":132,"end":140},"obj":"GeneOrGeneProduct"}],"text":"The patient showed an R227Q mutation that has been described in an Asian population and MPH patients, along with a novel frameshift mutation, Tdel219."}

    LitCoin-GeneOrGeneProduct-v2

    {"project":"LitCoin-GeneOrGeneProduct-v2","denotations":[{"id":"T15","span":{"begin":115,"end":120},"obj":"GeneOrGeneProduct"}],"text":"The patient showed an R227Q mutation that has been described in an Asian population and MPH patients, along with a novel frameshift mutation, Tdel219."}

    LitCoin-Disease-MeSH

    {"project":"LitCoin-Disease-MeSH","denotations":[{"id":"T6","span":{"begin":88,"end":91},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A6","pred":"originalLabel","subj":"T6","obj":"D058490"}],"text":"The patient showed an R227Q mutation that has been described in an Asian population and MPH patients, along with a novel frameshift mutation, Tdel219."}

    LitCoin-NCBITaxon-2

    {"project":"LitCoin-NCBITaxon-2","denotations":[{"id":"T6","span":{"begin":4,"end":11},"obj":"OrganismTaxon"},{"id":"T7","span":{"begin":92,"end":100},"obj":"OrganismTaxon"}],"text":"The patient showed an R227Q mutation that has been described in an Asian population and MPH patients, along with a novel frameshift mutation, Tdel219."}

    LitCoin-MeSH-Disease-2

    {"project":"LitCoin-MeSH-Disease-2","denotations":[{"id":"T5","span":{"begin":88,"end":91},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A5","pred":"ID:","subj":"T5","obj":"D058490"}],"text":"The patient showed an R227Q mutation that has been described in an Asian population and MPH patients, along with a novel frameshift mutation, Tdel219."}

    LitCoin-MONDO_bioort2019

    {"project":"LitCoin-MONDO_bioort2019","denotations":[{"id":"T5","span":{"begin":88,"end":91},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A5","pred":"#label","subj":"T5","obj":"D058490"}],"text":"The patient showed an R227Q mutation that has been described in an Asian population and MPH patients, along with a novel frameshift mutation, Tdel219."}

    LitCoin-Chemical-MeSH-CHEBI

    {"project":"LitCoin-Chemical-MeSH-CHEBI","denotations":[{"id":"T17","span":{"begin":88,"end":91},"obj":"ChemicalEntity"}],"attributes":[{"id":"A17","pred":"ID:","subj":"T17","obj":"C041626"}],"text":"The patient showed an R227Q mutation that has been described in an Asian population and MPH patients, along with a novel frameshift mutation, Tdel219."}

    LitCoin-training-merged

    {"project":"LitCoin-training-merged","denotations":[{"id":"T17","span":{"begin":88,"end":91},"obj":"ChemicalEntity"},{"id":"T24787","span":{"begin":88,"end":91},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T84107","span":{"begin":92,"end":100},"obj":"OrganismTaxon"},{"id":"T19164","span":{"begin":4,"end":11},"obj":"OrganismTaxon"},{"id":"T82436","span":{"begin":142,"end":149},"obj":"SequenceVariant"},{"id":"T42366","span":{"begin":22,"end":27},"obj":"SequenceVariant"}],"attributes":[{"id":"A17","pred":"ID:","subj":"T17","obj":"C041626"},{"id":"A48909","pred":"#label","subj":"T24787","obj":"D058490"}],"text":"The patient showed an R227Q mutation that has been described in an Asian population and MPH patients, along with a novel frameshift mutation, Tdel219."}

    tmVarCorpus

    {"project":"tmVarCorpus","denotations":[{"id":"T2","span":{"begin":22,"end":27},"obj":"ProteinMutation:p|SUB|R|227|Q"},{"id":"T3","span":{"begin":142,"end":149},"obj":"DNAMutation:|DEL|CODON219|T"}],"text":"The patient showed an R227Q mutation that has been described in an Asian population and MPH patients, along with a novel frameshift mutation, Tdel219."}