PubMed:21684788 / 1316-1533 JSONTXT

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    LitCoin-sentences

    {"project":"LitCoin-sentences","denotations":[{"id":"T10","span":{"begin":0,"end":217},"obj":"Sentence"}],"text":"Geneticists should consider the possibility of compound heterozygosity for large deletions in patients with SLS and other inborn errors of metabolism, which has implications for carrier testing and prenatal diagnosis."}

    LitCoin-entities

    {"project":"LitCoin-entities","denotations":[{"id":"8722","span":{"begin":94,"end":102},"obj":"OrganismTaxon"},{"id":"8723","span":{"begin":108,"end":111},"obj":"DiseaseOrPhenotypicFeature"},{"id":"8724","span":{"begin":122,"end":149},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A30","pred":"db_id","subj":"8722","obj":"NCBITaxon:9606"},{"id":"A31","pred":"db_id","subj":"8723","obj":"MESH:D016111"},{"id":"A32","pred":"db_id","subj":"8724","obj":"MESH:D008661"}],"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":"Geneticists should consider the possibility of compound heterozygosity for large deletions in patients with SLS and other inborn errors of metabolism, which has implications for carrier testing and prenatal diagnosis."}

    LitCoin_Mondo

    {"project":"LitCoin_Mondo","denotations":[{"id":"T5","span":{"begin":122,"end":149},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A5","pred":"mondo_id","subj":"T5","obj":"0019052"}],"text":"Geneticists should consider the possibility of compound heterozygosity for large deletions in patients with SLS and other inborn errors of metabolism, which has implications for carrier testing and prenatal diagnosis."}

    LitCoin-GeneOrGeneProduct-v0

    {"project":"LitCoin-GeneOrGeneProduct-v0","denotations":[{"id":"T38","span":{"begin":75,"end":80},"obj":"GeneOrGeneProduct"},{"id":"T39","span":{"begin":116,"end":121},"obj":"GeneOrGeneProduct"},{"id":"T40","span":{"begin":178,"end":185},"obj":"GeneOrGeneProduct"},{"id":"T41","span":{"begin":186,"end":193},"obj":"GeneOrGeneProduct"}],"text":"Geneticists should consider the possibility of compound heterozygosity for large deletions in patients with SLS and other inborn errors of metabolism, which has implications for carrier testing and prenatal diagnosis."}

    LitCoin-GeneOrGeneProduct-v2

    {"project":"LitCoin-GeneOrGeneProduct-v2","denotations":[{"id":"T21","span":{"begin":75,"end":80},"obj":"GeneOrGeneProduct"},{"id":"T22","span":{"begin":116,"end":121},"obj":"GeneOrGeneProduct"},{"id":"T23","span":{"begin":178,"end":185},"obj":"GeneOrGeneProduct"}],"text":"Geneticists should consider the possibility of compound heterozygosity for large deletions in patients with SLS and other inborn errors of metabolism, which has implications for carrier testing and prenatal diagnosis."}

    LitCoin-Disease-MeSH

    {"project":"LitCoin-Disease-MeSH","denotations":[{"id":"T15","span":{"begin":108,"end":111},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T16","span":{"begin":122,"end":149},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A15","pred":"originalLabel","subj":"T15","obj":"D016111"},{"id":"A16","pred":"originalLabel","subj":"T16","obj":"D008661"}],"text":"Geneticists should consider the possibility of compound heterozygosity for large deletions in patients with SLS and other inborn errors of metabolism, which has implications for carrier testing and prenatal diagnosis."}

    LitCoin_Mondo_095

    {"project":"LitCoin_Mondo_095","denotations":[{"id":"T18","span":{"begin":108,"end":111},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T20","span":{"begin":122,"end":149},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A18","pred":"mondo_id","subj":"T18","obj":"0700001"},{"id":"A19","pred":"mondo_id","subj":"T18","obj":"0010031"},{"id":"A20","pred":"mondo_id","subj":"T20","obj":"0019052"}],"text":"Geneticists should consider the possibility of compound heterozygosity for large deletions in patients with SLS and other inborn errors of metabolism, which has implications for carrier testing and prenatal diagnosis."}

    LitCoin-MeSH-Disease-2

    {"project":"LitCoin-MeSH-Disease-2","denotations":[{"id":"T14","span":{"begin":108,"end":111},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T15","span":{"begin":122,"end":149},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A14","pred":"ID:","subj":"T14","obj":"D016111"},{"id":"A15","pred":"ID:","subj":"T15","obj":"D008661"}],"text":"Geneticists should consider the possibility of compound heterozygosity for large deletions in patients with SLS and other inborn errors of metabolism, which has implications for carrier testing and prenatal diagnosis."}

    LitCoin-Chemical-MeSH-CHEBI

    {"project":"LitCoin-Chemical-MeSH-CHEBI","denotations":[{"id":"T16","span":{"begin":108,"end":111},"obj":"ChemicalEntity"}],"attributes":[{"id":"A16","pred":"ID:","subj":"T16","obj":"http://purl.obolibrary.org/obo/CHEBI_8984"},{"id":"A17","pred":"ID:","subj":"T16","obj":"http://purl.obolibrary.org/obo/CHEBI_144475"}],"text":"Geneticists should consider the possibility of compound heterozygosity for large deletions in patients with SLS and other inborn errors of metabolism, which has implications for carrier testing and prenatal diagnosis."}

    LitCoin-MONDO_bioort2019

    {"project":"LitCoin-MONDO_bioort2019","denotations":[{"id":"T13","span":{"begin":108,"end":111},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T14","span":{"begin":122,"end":149},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A13","pred":"#label","subj":"T13","obj":"D016111"},{"id":"A14","pred":"#label","subj":"T14","obj":"D008661"}],"text":"Geneticists should consider the possibility of compound heterozygosity for large deletions in patients with SLS and other inborn errors of metabolism, which has implications for carrier testing and prenatal diagnosis."}

    LitCoin-NCBITaxon-2

    {"project":"LitCoin-NCBITaxon-2","denotations":[{"id":"T4","span":{"begin":94,"end":102},"obj":"OrganismTaxon"}],"text":"Geneticists should consider the possibility of compound heterozygosity for large deletions in patients with SLS and other inborn errors of metabolism, which has implications for carrier testing and prenatal diagnosis."}

    LitCoin-training-merged

    {"project":"LitCoin-training-merged","denotations":[{"id":"T16","span":{"begin":108,"end":111},"obj":"ChemicalEntity"},{"id":"T76587","span":{"begin":122,"end":149},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T13","span":{"begin":108,"end":111},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T97659","span":{"begin":94,"end":102},"obj":"OrganismTaxon"}],"attributes":[{"id":"A17","pred":"ID:","subj":"T16","obj":"http://purl.obolibrary.org/obo/CHEBI_144475"},{"id":"A16","pred":"ID:","subj":"T16","obj":"http://purl.obolibrary.org/obo/CHEBI_8984"},{"id":"A65110","pred":"#label","subj":"T76587","obj":"D008661"},{"id":"A89055","pred":"#label","subj":"T13","obj":"D016111"}],"text":"Geneticists should consider the possibility of compound heterozygosity for large deletions in patients with SLS and other inborn errors of metabolism, which has implications for carrier testing and prenatal diagnosis."}