PubMed:8755918 / 0-202 JSONTXT

{"project":"LitCoin-sentences","denotations":[{"id":"T1","span":{"begin":0,"end":70},"obj":"Sentence"}],"text":"Mutations associated with variant phenotypes in ataxia-telangiectasia.\nWe have identified 14 families with ataxia-telangiectasia (A-T) in which mutation of the ATM gene is associated with a less severe "}

{"project":"LitCoin-entities","denotations":[{"id":"160","span":{"begin":48,"end":69},"obj":"DiseaseOrPhenotypicFeature"},{"id":"161","span":{"begin":107,"end":128},"obj":"DiseaseOrPhenotypicFeature"},{"id":"162","span":{"begin":130,"end":133},"obj":"DiseaseOrPhenotypicFeature"},{"id":"163","span":{"begin":160,"end":163},"obj":"GeneOrGeneProduct"}],"attributes":[{"id":"A1","pred":"db_id","subj":"160","obj":"MESH:D001260"},{"id":"A2","pred":"db_id","subj":"161","obj":"MESH:D001260"},{"id":"A3","pred":"db_id","subj":"162","obj":"MESH:D001260"},{"id":"A4","pred":"db_id","subj":"163","obj":"NCBIGene:472"}],"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":"Mutations associated with variant phenotypes in ataxia-telangiectasia.\nWe have identified 14 families with ataxia-telangiectasia (A-T) in which mutation of the ATM gene is associated with a less severe "}

{"project":"LitCoin_Mondo","denotations":[{"id":"T1","span":{"begin":48,"end":69},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":107,"end":128},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"0008840"},{"id":"A2","pred":"mondo_id","subj":"T2","obj":"0008840"}],"text":"Mutations associated with variant phenotypes in ataxia-telangiectasia.\nWe have identified 14 families with ataxia-telangiectasia (A-T) in which mutation of the ATM gene is associated with a less severe "}

{"project":"LitCoin-GeneOrGeneProduct-v0","denotations":[{"id":"T1","span":{"begin":0,"end":9},"obj":"GeneOrGeneProduct"},{"id":"T2","span":{"begin":48,"end":54},"obj":"GeneOrGeneProduct"},{"id":"T3","span":{"begin":107,"end":113},"obj":"GeneOrGeneProduct"},{"id":"T4","span":{"begin":144,"end":152},"obj":"GeneOrGeneProduct"}],"text":"Mutations associated with variant phenotypes in ataxia-telangiectasia.\nWe have identified 14 families with ataxia-telangiectasia (A-T) in which mutation of the ATM gene is associated with a less severe "}

{"project":"LitCoin-GeneOrGeneProduct-v2","denotations":[{"id":"T1","span":{"begin":48,"end":54},"obj":"GeneOrGeneProduct"},{"id":"T2","span":{"begin":107,"end":113},"obj":"GeneOrGeneProduct"}],"text":"Mutations associated with variant phenotypes in ataxia-telangiectasia.\nWe have identified 14 families with ataxia-telangiectasia (A-T) in which mutation of the ATM gene is associated with a less severe "}

{"project":"LitCoin-Disease-MeSH","denotations":[{"id":"T1","span":{"begin":48,"end":69},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":107,"end":128},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"originalLabel","subj":"T1","obj":"D001260"},{"id":"A2","pred":"originalLabel","subj":"T2","obj":"D001260"}],"text":"Mutations associated with variant phenotypes in ataxia-telangiectasia.\nWe have identified 14 families with ataxia-telangiectasia (A-T) in which mutation of the ATM gene is associated with a less severe "}

{"project":"LitCoin_Mondo_095","denotations":[{"id":"T1","span":{"begin":48,"end":69},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":107,"end":128},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"0008840"},{"id":"A2","pred":"mondo_id","subj":"T2","obj":"0008840"}],"text":"Mutations associated with variant phenotypes in ataxia-telangiectasia.\nWe have identified 14 families with ataxia-telangiectasia (A-T) in which mutation of the ATM gene is associated with a less severe "}

{"project":"LitCoin-MeSH-Disease-2","denotations":[{"id":"T1","span":{"begin":48,"end":69},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":107,"end":128},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"ID:","subj":"T1","obj":"D001260"},{"id":"A2","pred":"ID:","subj":"T2","obj":"D001260"}],"text":"Mutations associated with variant phenotypes in ataxia-telangiectasia.\nWe have identified 14 families with ataxia-telangiectasia (A-T) in which mutation of the ATM gene is associated with a less severe "}

{"project":"LitCoin-MONDO_bioort2019","denotations":[{"id":"T1","span":{"begin":48,"end":69},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":107,"end":128},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":130,"end":133},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"#label","subj":"T1","obj":"D001260"},{"id":"A2","pred":"#label","subj":"T2","obj":"D001260"},{"id":"A3","pred":"#label","subj":"T3","obj":"DISEASE"}],"text":"Mutations associated with variant phenotypes in ataxia-telangiectasia.\nWe have identified 14 families with ataxia-telangiectasia (A-T) in which mutation of the ATM gene is associated with a less severe "}

{"project":"LitCoin-training-merged","denotations":[{"id":"T3","span":{"begin":130,"end":133},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":107,"end":128},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T1","span":{"begin":48,"end":69},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A3","pred":"#label","subj":"T3","obj":"DISEASE"},{"id":"A2","pred":"#label","subj":"T2","obj":"D001260"},{"id":"A1","pred":"#label","subj":"T1","obj":"D001260"}],"text":"Mutations associated with variant phenotypes in ataxia-telangiectasia.\nWe have identified 14 families with ataxia-telangiectasia (A-T) in which mutation of the ATM gene is associated with a less severe "}

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":160,"end":163},"obj":"gene:472"},{"id":"T1","span":{"begin":107,"end":128},"obj":"disease:C0004135"},{"id":"T2","span":{"begin":160,"end":163},"obj":"gene:472"},{"id":"T3","span":{"begin":130,"end":133},"obj":"disease:C0004135"},{"id":"T4","span":{"begin":160,"end":163},"obj":"gene:472"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"},{"id":"R2","pred":"associated_with","subj":"T2","obj":"T3"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Mutations associated with variant phenotypes in ataxia-telangiectasia.\nWe have identified 14 families with ataxia-telangiectasia (A-T) in which mutation of the ATM gene is associated with a less severe "}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"8755918-1#89#92#gene472","span":{"begin":160,"end":163},"obj":"gene472"},{"id":"8755918-1#36#57#diseaseC0004135","span":{"begin":107,"end":128},"obj":"diseaseC0004135"},{"id":"8755918-1#59#62#diseaseC0004135","span":{"begin":130,"end":133},"obj":"diseaseC0004135"}],"relations":[{"id":"89#92#gene47236#57#diseaseC0004135","pred":"associated_with","subj":"8755918-1#89#92#gene472","obj":"8755918-1#36#57#diseaseC0004135"},{"id":"89#92#gene47259#62#diseaseC0004135","pred":"associated_with","subj":"8755918-1#89#92#gene472","obj":"8755918-1#59#62#diseaseC0004135"}],"text":"Mutations associated with variant phenotypes in ataxia-telangiectasia.\nWe have identified 14 families with ataxia-telangiectasia (A-T) in which mutation of the ATM gene is associated with a less severe "}

{"project":"NCBIDiseaseCorpus","denotations":[{"id":"T1","span":{"begin":48,"end":69},"obj":"SpecificDisease:D001260"},{"id":"T2","span":{"begin":107,"end":128},"obj":"SpecificDisease:D001260"},{"id":"T3","span":{"begin":130,"end":133},"obj":"SpecificDisease:D001260"}],"text":"Mutations associated with variant phenotypes in ataxia-telangiectasia.\nWe have identified 14 families with ataxia-telangiectasia (A-T) in which mutation of the ATM gene is associated with a less severe "}