PubMed:17549393 / 0-157 JSONTXT

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    LitCoin-entities

    {"project":"LitCoin-entities","denotations":[{"id":"4119","span":{"begin":8,"end":12},"obj":"GeneOrGeneProduct"},{"id":"4120","span":{"begin":32,"end":36},"obj":"SequenceVariant"},{"id":"4121","span":{"begin":62,"end":84},"obj":"DiseaseOrPhenotypicFeature"},{"id":"4122","span":{"begin":86,"end":108},"obj":"DiseaseOrPhenotypicFeature"},{"id":"4123","span":{"begin":110,"end":113},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"db_id","subj":"4119","obj":"NCBIGene:3664"},{"id":"A2","pred":"db_id","subj":"4120","obj":"p|SUB|Y|67|X"},{"id":"A3","pred":"db_id","subj":"4121","obj":"MESH:C536528"},{"id":"A4","pred":"db_id","subj":"4122","obj":"MESH:C536528"},{"id":"A5","pred":"db_id","subj":"4123","obj":"MESH:C536528"}],"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":"A novel IRF6 nonsense mutation (Y67X) in a German family with Van der Woude syndrome.\nVan der Woude syndrome (VWS) is the most common type of syndromic orofa"}

    LitCoin-sentences

    {"project":"LitCoin-sentences","denotations":[{"id":"T1","span":{"begin":0,"end":85},"obj":"Sentence"}],"text":"A novel IRF6 nonsense mutation (Y67X) in a German family with Van der Woude syndrome.\nVan der Woude syndrome (VWS) is the most common type of syndromic orofa"}

    LitCoin_Mondo

    {"project":"LitCoin_Mondo","denotations":[{"id":"T1","span":{"begin":62,"end":84},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":86,"end":108},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"0019508"},{"id":"A2","pred":"mondo_id","subj":"T2","obj":"0019508"}],"text":"A novel IRF6 nonsense mutation (Y67X) in a German family with Van der Woude syndrome.\nVan der Woude syndrome (VWS) is the most common type of syndromic orofa"}

    LitCoin-SeqVar

    {"project":"LitCoin-SeqVar","denotations":[{"id":"T1","span":{"begin":32,"end":36},"obj":"SequenceVariant"}],"text":"A novel IRF6 nonsense mutation (Y67X) in a German family with Van der Woude syndrome.\nVan der Woude syndrome (VWS) is the most common type of syndromic orofa"}

    LitCoin-GeneOrGeneProduct-v0

    {"project":"LitCoin-GeneOrGeneProduct-v0","denotations":[{"id":"T1","span":{"begin":2,"end":7},"obj":"GeneOrGeneProduct"},{"id":"T2","span":{"begin":8,"end":12},"obj":"GeneOrGeneProduct"},{"id":"T3","span":{"begin":22,"end":30},"obj":"GeneOrGeneProduct"},{"id":"T4","span":{"begin":38,"end":42},"obj":"GeneOrGeneProduct"},{"id":"T5","span":{"begin":76,"end":84},"obj":"GeneOrGeneProduct"},{"id":"T6","span":{"begin":100,"end":108},"obj":"GeneOrGeneProduct"},{"id":"T7","span":{"begin":142,"end":151},"obj":"GeneOrGeneProduct"}],"text":"A novel IRF6 nonsense mutation (Y67X) in a German family with Van der Woude syndrome.\nVan der Woude syndrome (VWS) is the most common type of syndromic orofa"}

    LitCoin-GeneOrGeneProduct-v2

    {"project":"LitCoin-GeneOrGeneProduct-v2","denotations":[{"id":"T1","span":{"begin":2,"end":7},"obj":"GeneOrGeneProduct"},{"id":"T2","span":{"begin":8,"end":12},"obj":"GeneOrGeneProduct"},{"id":"T3","span":{"begin":76,"end":84},"obj":"GeneOrGeneProduct"},{"id":"T4","span":{"begin":100,"end":108},"obj":"GeneOrGeneProduct"}],"text":"A novel IRF6 nonsense mutation (Y67X) in a German family with Van der Woude syndrome.\nVan der Woude syndrome (VWS) is the most common type of syndromic orofa"}

    LitCoin-Disease-MeSH

    {"project":"LitCoin-Disease-MeSH","denotations":[{"id":"T1","span":{"begin":62,"end":84},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":86,"end":108},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":110,"end":113},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":142,"end":151},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"originalLabel","subj":"T1","obj":"C536528"},{"id":"A2","pred":"originalLabel","subj":"T2","obj":"C536528"},{"id":"A3","pred":"originalLabel","subj":"T3","obj":"C536528"},{"id":"A4","pred":"originalLabel","subj":"T4","obj":"D013577"}],"text":"A novel IRF6 nonsense mutation (Y67X) in a German family with Van der Woude syndrome.\nVan der Woude syndrome (VWS) is the most common type of syndromic orofa"}

    LitCoin-GeneOrGeneProduct-v3

    {"project":"LitCoin-GeneOrGeneProduct-v3","denotations":[{"id":"T1","span":{"begin":8,"end":12},"obj":"GeneOrGeneProduct"}],"text":"A novel IRF6 nonsense mutation (Y67X) in a German family with Van der Woude syndrome.\nVan der Woude syndrome (VWS) is the most common type of syndromic orofa"}

    LitCoin_Mondo_095

    {"project":"LitCoin_Mondo_095","denotations":[{"id":"T1","span":{"begin":62,"end":84},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":86,"end":108},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":110,"end":113},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"0019508"},{"id":"A2","pred":"mondo_id","subj":"T2","obj":"0019508"},{"id":"A3","pred":"mondo_id","subj":"T3","obj":"0019508"}],"text":"A novel IRF6 nonsense mutation (Y67X) in a German family with Van der Woude syndrome.\nVan der Woude syndrome (VWS) is the most common type of syndromic orofa"}

    LitCoin-MeSH-Disease-2

    {"project":"LitCoin-MeSH-Disease-2","denotations":[{"id":"T1","span":{"begin":62,"end":84},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":86,"end":108},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":110,"end":113},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"ID:","subj":"T1","obj":"C536528"},{"id":"A2","pred":"ID:","subj":"T2","obj":"C536528"},{"id":"A3","pred":"ID:","subj":"T3","obj":"C536528"}],"text":"A novel IRF6 nonsense mutation (Y67X) in a German family with Van der Woude syndrome.\nVan der Woude syndrome (VWS) is the most common type of syndromic orofa"}

    LitCoin-MONDO_bioort2019

    {"project":"LitCoin-MONDO_bioort2019","denotations":[{"id":"T1","span":{"begin":62,"end":84},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":86,"end":108},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":110,"end":113},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"#label","subj":"T1","obj":"C536528"},{"id":"A2","pred":"#label","subj":"T2","obj":"C536528"},{"id":"A3","pred":"#label","subj":"T3","obj":"C536528"}],"text":"A novel IRF6 nonsense mutation (Y67X) in a German family with Van der Woude syndrome.\nVan der Woude syndrome (VWS) is the most common type of syndromic orofa"}

    LitCoin-training-merged

    {"project":"LitCoin-training-merged","denotations":[{"id":"T92598","span":{"begin":8,"end":12},"obj":"GeneOrGeneProduct"},{"id":"T73165","span":{"begin":110,"end":113},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T29454","span":{"begin":86,"end":108},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T89410","span":{"begin":62,"end":84},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T61975","span":{"begin":32,"end":36},"obj":"SequenceVariant"}],"attributes":[{"id":"A3","pred":"#label","subj":"T73165","obj":"C536528"},{"id":"A2","pred":"#label","subj":"T29454","obj":"C536528"},{"id":"A52231","pred":"#label","subj":"T89410","obj":"C536528"}],"text":"A novel IRF6 nonsense mutation (Y67X) in a German family with Van der Woude syndrome.\nVan der Woude syndrome (VWS) is the most common type of syndromic orofa"}

    DisGeNET

    {"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":8,"end":12},"obj":"gene:3664"},{"id":"T1","span":{"begin":62,"end":84},"obj":"disease:C0175697"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"A novel IRF6 nonsense mutation (Y67X) in a German family with Van der Woude syndrome.\nVan der Woude syndrome (VWS) is the most common type of syndromic orofa"}

    DisGeNET5_gene_disease

    {"project":"DisGeNET5_gene_disease","denotations":[{"id":"17549393-0#8#12#gene3664","span":{"begin":8,"end":12},"obj":"gene3664"},{"id":"17549393-0#62#84#diseaseC0175697","span":{"begin":62,"end":84},"obj":"diseaseC0175697"}],"relations":[{"id":"8#12#gene366462#84#diseaseC0175697","pred":"associated_with","subj":"17549393-0#8#12#gene3664","obj":"17549393-0#62#84#diseaseC0175697"}],"text":"A novel IRF6 nonsense mutation (Y67X) in a German family with Van der Woude syndrome.\nVan der Woude syndrome (VWS) is the most common type of syndromic orofa"}

    tmVarCorpus

    {"project":"tmVarCorpus","denotations":[{"id":"T1","span":{"begin":32,"end":36},"obj":"ProteinMutation:p|SUB|Y|67|X"}],"text":"A novel IRF6 nonsense mutation (Y67X) in a German family with Van der Woude syndrome.\nVan der Woude syndrome (VWS) is the most common type of syndromic orofa"}