PubMed:17033686 / 756-937
Annnotations
LitCoin-sentences
{"project":"LitCoin-sentences","denotations":[{"id":"T5","span":{"begin":0,"end":181},"obj":"Sentence"}],"text":"A missense mutation in BCOR was described in a family with Lenz microphthalmia syndrome, a phenotype showing substantial overlapping features with that described in the two cousins."}
LitCoin-entities
{"project":"LitCoin-entities","denotations":[{"id":"3464","span":{"begin":23,"end":27},"obj":"GeneOrGeneProduct"},{"id":"3465","span":{"begin":59,"end":87},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A19","pred":"db_id","subj":"3464","obj":"NCBIGene:54880"},{"id":"A20","pred":"db_id","subj":"3465","obj":"MESH:C537464"}],"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 missense mutation in BCOR was described in a family with Lenz microphthalmia syndrome, a phenotype showing substantial overlapping features with that described in the two cousins."}
LitCoin_Mondo
{"project":"LitCoin_Mondo","denotations":[{"id":"T9","span":{"begin":64,"end":78},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A9","pred":"mondo_id","subj":"T9","obj":"0021129"}],"text":"A missense mutation in BCOR was described in a family with Lenz microphthalmia syndrome, a phenotype showing substantial overlapping features with that described in the two cousins."}
LitCoin-GeneOrGeneProduct-v0
{"project":"LitCoin-GeneOrGeneProduct-v0","denotations":[{"id":"T23","span":{"begin":2,"end":10},"obj":"GeneOrGeneProduct"},{"id":"T24","span":{"begin":11,"end":19},"obj":"GeneOrGeneProduct"},{"id":"T25","span":{"begin":23,"end":27},"obj":"GeneOrGeneProduct"},{"id":"T26","span":{"begin":42,"end":46},"obj":"GeneOrGeneProduct"},{"id":"T27","span":{"begin":64,"end":78},"obj":"GeneOrGeneProduct"},{"id":"T28","span":{"begin":79,"end":87},"obj":"GeneOrGeneProduct"}],"text":"A missense mutation in BCOR was described in a family with Lenz microphthalmia syndrome, a phenotype showing substantial overlapping features with that described in the two cousins."}
LitCoin-GeneOrGeneProduct-v2
{"project":"LitCoin-GeneOrGeneProduct-v2","denotations":[{"id":"T14","span":{"begin":23,"end":27},"obj":"GeneOrGeneProduct"},{"id":"T15","span":{"begin":64,"end":78},"obj":"GeneOrGeneProduct"},{"id":"T16","span":{"begin":79,"end":87},"obj":"GeneOrGeneProduct"}],"text":"A missense mutation in BCOR was described in a family with Lenz microphthalmia syndrome, a phenotype showing substantial overlapping features with that described in the two cousins."}
LitCoin-Disease-MeSH
{"project":"LitCoin-Disease-MeSH","denotations":[{"id":"T14","span":{"begin":59,"end":87},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A14","pred":"originalLabel","subj":"T14","obj":"C537464"}],"text":"A missense mutation in BCOR was described in a family with Lenz microphthalmia syndrome, a phenotype showing substantial overlapping features with that described in the two cousins."}
LitCoin-GeneOrGeneProduct-v3
{"project":"LitCoin-GeneOrGeneProduct-v3","denotations":[{"id":"T5","span":{"begin":23,"end":27},"obj":"GeneOrGeneProduct"}],"text":"A missense mutation in BCOR was described in a family with Lenz microphthalmia syndrome, a phenotype showing substantial overlapping features with that described in the two cousins."}
LitCoin_Mondo_095
{"project":"LitCoin_Mondo_095","denotations":[{"id":"T15","span":{"begin":59,"end":87},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A15","pred":"mondo_id","subj":"T15","obj":"0010671"}],"text":"A missense mutation in BCOR was described in a family with Lenz microphthalmia syndrome, a phenotype showing substantial overlapping features with that described in the two cousins."}
LitCoin-MeSH-Disease-2
{"project":"LitCoin-MeSH-Disease-2","denotations":[{"id":"T17","span":{"begin":59,"end":87},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A17","pred":"ID:","subj":"T17","obj":"C537464"}],"text":"A missense mutation in BCOR was described in a family with Lenz microphthalmia syndrome, a phenotype showing substantial overlapping features with that described in the two cousins."}
LitCoin-MONDO_bioort2019
{"project":"LitCoin-MONDO_bioort2019","denotations":[{"id":"T16","span":{"begin":59,"end":87},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A16","pred":"#label","subj":"T16","obj":"C537464"}],"text":"A missense mutation in BCOR was described in a family with Lenz microphthalmia syndrome, a phenotype showing substantial overlapping features with that described in the two cousins."}
LitCoin-training-merged
{"project":"LitCoin-training-merged","denotations":[{"id":"T5","span":{"begin":23,"end":27},"obj":"GeneOrGeneProduct"},{"id":"T16","span":{"begin":59,"end":87},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A16","pred":"#label","subj":"T16","obj":"C537464"}],"text":"A missense mutation in BCOR was described in a family with Lenz microphthalmia syndrome, a phenotype showing substantial overlapping features with that described in the two cousins."}
sentences
{"project":"sentences","denotations":[{"id":"TextSentencer_T5","span":{"begin":0,"end":181},"obj":"Sentence"},{"id":"T5","span":{"begin":0,"end":181},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"A missense mutation in BCOR was described in a family with Lenz microphthalmia syndrome, a phenotype showing substantial overlapping features with that described in the two cousins."}
DisGeNET
{"project":"DisGeNET","denotations":[{"id":"T6","span":{"begin":23,"end":27},"obj":"gene:54880"},{"id":"T7","span":{"begin":59,"end":87},"obj":"disease:C0796016"}],"relations":[{"id":"R4","pred":"associated_with","subj":"T6","obj":"T7"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"A missense mutation in BCOR was described in a family with Lenz microphthalmia syndrome, a phenotype showing substantial overlapping features with that described in the two cousins."}
PubmedHPO
{"project":"PubmedHPO","denotations":[{"id":"T13","span":{"begin":64,"end":78},"obj":"HP_0000568"}],"text":"A missense mutation in BCOR was described in a family with Lenz microphthalmia syndrome, a phenotype showing substantial overlapping features with that described in the two cousins."}
DisGeNET5_gene_disease
{"project":"DisGeNET5_gene_disease","denotations":[{"id":"17033686-4#23#27#gene54880","span":{"begin":23,"end":27},"obj":"gene54880"},{"id":"17033686-4#59#87#diseaseC0796016","span":{"begin":59,"end":87},"obj":"diseaseC0796016"}],"relations":[{"id":"23#27#gene5488059#87#diseaseC0796016","pred":"associated_with","subj":"17033686-4#23#27#gene54880","obj":"17033686-4#59#87#diseaseC0796016"}],"text":"A missense mutation in BCOR was described in a family with Lenz microphthalmia syndrome, a phenotype showing substantial overlapping features with that described in the two cousins."}
PubCasesHPO
{"project":"PubCasesHPO","denotations":[{"id":"AB6","span":{"begin":64,"end":78},"obj":"HP:0000568"}],"text":"A missense mutation in BCOR was described in a family with Lenz microphthalmia syndrome, a phenotype showing substantial overlapping features with that described in the two cousins."}
PubCasesORDO
{"project":"PubCasesORDO","denotations":[{"id":"AB2","span":{"begin":59,"end":78},"obj":"ORDO:568"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"text":"A missense mutation in BCOR was described in a family with Lenz microphthalmia syndrome, a phenotype showing substantial overlapping features with that described in the two cousins."}