
PubMed:17033686 / 756-937
Annnotations
{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/17033686","sourcedb":"PubMed","sourceid":"17033686","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/17033686","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.","tracks":[{"project":"LitCoin-sentences","denotations":[{"id":"T5","span":{"begin":0,"end":181},"obj":"Sentence"}],"attributes":[{"subj":"T5","pred":"source","obj":"LitCoin-sentences"}]},{"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"},{"subj":"3464","pred":"source","obj":"LitCoin-entities"},{"subj":"3465","pred":"source","obj":"LitCoin-entities"}],"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/"}]},{"project":"LitCoin_Mondo","denotations":[{"id":"T9","span":{"begin":64,"end":78},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A9","pred":"mondo_id","subj":"T9","obj":"0021129"},{"subj":"T9","pred":"source","obj":"LitCoin_Mondo"}]},{"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"}],"attributes":[{"subj":"T23","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v0"},{"subj":"T24","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v0"},{"subj":"T25","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v0"},{"subj":"T26","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v0"},{"subj":"T27","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v0"},{"subj":"T28","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v0"}]},{"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"}],"attributes":[{"subj":"T14","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v2"},{"subj":"T15","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v2"},{"subj":"T16","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v2"}]},{"project":"LitCoin-Disease-MeSH","denotations":[{"id":"T14","span":{"begin":59,"end":87},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A14","pred":"originalLabel","subj":"T14","obj":"C537464"},{"subj":"T14","pred":"source","obj":"LitCoin-Disease-MeSH"}]},{"project":"LitCoin-GeneOrGeneProduct-v3","denotations":[{"id":"T5","span":{"begin":23,"end":27},"obj":"GeneOrGeneProduct"}],"attributes":[{"subj":"T5","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v3"}]},{"project":"LitCoin_Mondo_095","denotations":[{"id":"T15","span":{"begin":59,"end":87},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A15","pred":"mondo_id","subj":"T15","obj":"0010671"},{"subj":"T15","pred":"source","obj":"LitCoin_Mondo_095"}]},{"project":"LitCoin-MeSH-Disease-2","denotations":[{"id":"T17","span":{"begin":59,"end":87},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A17","pred":"ID:","subj":"T17","obj":"C537464"},{"subj":"T17","pred":"source","obj":"LitCoin-MeSH-Disease-2"}]},{"project":"LitCoin-MONDO_bioort2019","denotations":[{"id":"T16","span":{"begin":59,"end":87},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A16","pred":"#label","subj":"T16","obj":"C537464"},{"subj":"T16","pred":"source","obj":"LitCoin-MONDO_bioort2019"}]},{"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"},{"subj":"T5","pred":"source","obj":"LitCoin-training-merged"},{"subj":"T16","pred":"source","obj":"LitCoin-training-merged"}]},{"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#"}],"attributes":[{"subj":"TextSentencer_T5","pred":"source","obj":"sentences"},{"subj":"T5","pred":"source","obj":"sentences"}]},{"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/"}],"attributes":[{"subj":"T6","pred":"source","obj":"DisGeNET"},{"subj":"T7","pred":"source","obj":"DisGeNET"}]},{"project":"PubmedHPO","denotations":[{"id":"T13","span":{"begin":64,"end":78},"obj":"HP_0000568"}],"attributes":[{"subj":"T13","pred":"source","obj":"PubmedHPO"}]},{"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"}],"attributes":[{"subj":"17033686-4#23#27#gene54880","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"17033686-4#59#87#diseaseC0796016","pred":"source","obj":"DisGeNET5_gene_disease"}]},{"project":"PubCasesHPO","denotations":[{"id":"AB6","span":{"begin":64,"end":78},"obj":"HP:0000568"}],"attributes":[{"subj":"AB6","pred":"source","obj":"PubCasesHPO"}]},{"project":"PubCasesORDO","denotations":[{"id":"AB2","span":{"begin":59,"end":78},"obj":"ORDO:568"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"attributes":[{"subj":"AB2","pred":"source","obj":"PubCasesORDO"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"LitCoin-sentences","color":"#e8ec93","default":true},{"id":"LitCoin-entities","color":"#d693ec"},{"id":"LitCoin_Mondo","color":"#93ecbc"},{"id":"LitCoin-GeneOrGeneProduct-v0","color":"#eca293"},{"id":"LitCoin-GeneOrGeneProduct-v2","color":"#939eec"},{"id":"LitCoin-Disease-MeSH","color":"#b8ec93"},{"id":"LitCoin-GeneOrGeneProduct-v3","color":"#ec93d2"},{"id":"LitCoin_Mondo_095","color":"#93ecec"},{"id":"LitCoin-MeSH-Disease-2","color":"#ecd293"},{"id":"LitCoin-MONDO_bioort2019","color":"#b893ec"},{"id":"LitCoin-training-merged","color":"#93ec9e"},{"id":"sentences","color":"#ec93a1"},{"id":"DisGeNET","color":"#93bbec"},{"id":"PubmedHPO","color":"#d5ec93"},{"id":"DisGeNET5_gene_disease","color":"#e893ec"},{"id":"PubCasesHPO","color":"#93ecce"},{"id":"PubCasesORDO","color":"#ecb493"}]}]}}