PubMed:15749661 / 0-115 JSONTXT

{"project":"PubTator4TogoVar","denotations":[{"id":"15749661_0","span":{"begin":21,"end":26},"obj":"ProteinMutation"}],"attributes":[{"id":"15749661_0_ProteinMutation","pred":"proteinmutation","subj":"15749661_0","obj":"rs80338886"}],"text":"Two novel mutations, L490R and V561X, of the transferrin receptor 2 gene in Japanese patients with hemochromatosis."}

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{"project":"LitCoin-entities","denotations":[{"id":"1495","span":{"begin":21,"end":26},"obj":"SequenceVariant"},{"id":"1496","span":{"begin":31,"end":36},"obj":"SequenceVariant"},{"id":"1497","span":{"begin":45,"end":67},"obj":"GeneOrGeneProduct"},{"id":"1498","span":{"begin":85,"end":93},"obj":"OrganismTaxon"},{"id":"1499","span":{"begin":99,"end":114},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"db_id","subj":"1495","obj":"DBSNP:rs80338886"},{"id":"A2","pred":"db_id","subj":"1496","obj":"DBSNP:rs80338887"},{"id":"A3","pred":"db_id","subj":"1497","obj":"NCBIGene:7036"},{"id":"A4","pred":"db_id","subj":"1498","obj":"NCBITaxon:9606"},{"id":"A5","pred":"db_id","subj":"1499","obj":"MESH:D006432"}],"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":"Two novel mutations, L490R and V561X, of the transferrin receptor 2 gene in Japanese patients with hemochromatosis."}

{"project":"LitCoin-SeqVar","denotations":[{"id":"T1","span":{"begin":21,"end":26},"obj":"SequenceVariant"},{"id":"T2","span":{"begin":31,"end":36},"obj":"SequenceVariant"}],"text":"Two novel mutations, L490R and V561X, of the transferrin receptor 2 gene in Japanese patients with hemochromatosis."}

{"project":"LitCoin-GeneOrGeneProduct-v0","denotations":[{"id":"T1","span":{"begin":4,"end":9},"obj":"GeneOrGeneProduct"},{"id":"T2","span":{"begin":10,"end":19},"obj":"GeneOrGeneProduct"},{"id":"T3","span":{"begin":45,"end":67},"obj":"GeneOrGeneProduct"},{"id":"T4","span":{"begin":99,"end":114},"obj":"GeneOrGeneProduct"}],"text":"Two novel mutations, L490R and V561X, of the transferrin receptor 2 gene in Japanese patients with hemochromatosis."}

{"project":"LitCoin-GeneOrGeneProduct-v2","denotations":[{"id":"T1","span":{"begin":4,"end":9},"obj":"GeneOrGeneProduct"},{"id":"T2","span":{"begin":45,"end":67},"obj":"GeneOrGeneProduct"},{"id":"T3","span":{"begin":99,"end":114},"obj":"GeneOrGeneProduct"}],"text":"Two novel mutations, L490R and V561X, of the transferrin receptor 2 gene in Japanese patients with hemochromatosis."}

{"project":"LitCoin-Disease-MeSH","denotations":[{"id":"T1","span":{"begin":99,"end":114},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"originalLabel","subj":"T1","obj":"D006432"}],"text":"Two novel mutations, L490R and V561X, of the transferrin receptor 2 gene in Japanese patients with hemochromatosis."}

{"project":"LitCoin-GeneOrGeneProduct-v3","denotations":[{"id":"T1","span":{"begin":45,"end":67},"obj":"GeneOrGeneProduct"}],"text":"Two novel mutations, L490R and V561X, of the transferrin receptor 2 gene in Japanese patients with hemochromatosis."}

{"project":"LitCoin_Mondo_095","denotations":[{"id":"T1","span":{"begin":99,"end":114},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"0006507"}],"text":"Two novel mutations, L490R and V561X, of the transferrin receptor 2 gene in Japanese patients with hemochromatosis."}

{"project":"LitCoin-MeSH-Disease-2","denotations":[{"id":"T1","span":{"begin":99,"end":114},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"ID:","subj":"T1","obj":"D006432"}],"text":"Two novel mutations, L490R and V561X, of the transferrin receptor 2 gene in Japanese patients with hemochromatosis."}

{"project":"LitCoin-MONDO_bioort2019","denotations":[{"id":"T1","span":{"begin":99,"end":114},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"#label","subj":"T1","obj":"D006432"}],"text":"Two novel mutations, L490R and V561X, of the transferrin receptor 2 gene in Japanese patients with hemochromatosis."}

{"project":"LitCoin-NCBITaxon-2","denotations":[{"id":"T1","span":{"begin":85,"end":93},"obj":"OrganismTaxon"}],"text":"Two novel mutations, L490R and V561X, of the transferrin receptor 2 gene in Japanese patients with hemochromatosis."}

{"project":"LitCoin-training-merged","denotations":[{"id":"T2016","span":{"begin":45,"end":67},"obj":"GeneOrGeneProduct"},{"id":"T55300","span":{"begin":99,"end":114},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T51052","span":{"begin":85,"end":93},"obj":"OrganismTaxon"},{"id":"T21389","span":{"begin":31,"end":36},"obj":"SequenceVariant"},{"id":"T25393","span":{"begin":21,"end":26},"obj":"SequenceVariant"}],"attributes":[{"id":"A55192","pred":"#label","subj":"T55300","obj":"D006432"}],"text":"Two novel mutations, L490R and V561X, of the transferrin receptor 2 gene in Japanese patients with hemochromatosis."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"15749661-0#45#67#gene7036","span":{"begin":45,"end":67},"obj":"gene7036"},{"id":"15749661-0#99#114#diseaseC0018995","span":{"begin":99,"end":114},"obj":"diseaseC0018995"},{"id":"15749661-0#99#114#diseaseC3469186","span":{"begin":99,"end":114},"obj":"diseaseC3469186"}],"relations":[{"id":"45#67#gene703699#114#diseaseC0018995","pred":"associated_with","subj":"15749661-0#45#67#gene7036","obj":"15749661-0#99#114#diseaseC0018995"},{"id":"45#67#gene703699#114#diseaseC3469186","pred":"associated_with","subj":"15749661-0#45#67#gene7036","obj":"15749661-0#99#114#diseaseC3469186"}],"text":"Two novel mutations, L490R and V561X, of the transferrin receptor 2 gene in Japanese patients with hemochromatosis."}

{"project":"tmVarCorpus","denotations":[{"id":"T1","span":{"begin":21,"end":26},"obj":"ProteinMutation:p|SUB|L|490|R"},{"id":"T2","span":{"begin":31,"end":36},"obj":"ProteinMutation:p|SUB|V|561|X"}],"text":"Two novel mutations, L490R and V561X, of the transferrin receptor 2 gene in Japanese patients with hemochromatosis."}