PubMed:17033686 / 1419-1659 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/17033686","sourcedb":"PubMed","sourceid":"17033686","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/17033686","text":"In summary, our findings demonstrate for the first time that mutations in PQBP1 are associated with an S-XLMR phenotype including microphthalmia, thereby further extending the clinical spectrum of phenotypes associated with PQBP1 mutations.","tracks":[{"project":"LitCoin-sentences","denotations":[{"id":"T10","span":{"begin":0,"end":240},"obj":"Sentence"}],"attributes":[{"subj":"T10","pred":"source","obj":"LitCoin-sentences"}]},{"project":"LitCoin-entities","denotations":[{"id":"3472","span":{"begin":74,"end":79},"obj":"GeneOrGeneProduct"},{"id":"3473","span":{"begin":105,"end":109},"obj":"DiseaseOrPhenotypicFeature"},{"id":"3474","span":{"begin":130,"end":144},"obj":"DiseaseOrPhenotypicFeature"},{"id":"3475","span":{"begin":224,"end":229},"obj":"GeneOrGeneProduct"}],"attributes":[{"id":"A27","pred":"db_id","subj":"3472","obj":"NCBIGene:10084"},{"id":"A28","pred":"db_id","subj":"3473","obj":"MESH:D038901"},{"id":"A29","pred":"db_id","subj":"3474","obj":"MESH:D008850"},{"id":"A30","pred":"db_id","subj":"3475","obj":"NCBIGene:10084"},{"subj":"3472","pred":"source","obj":"LitCoin-entities"},{"subj":"3473","pred":"source","obj":"LitCoin-entities"},{"subj":"3474","pred":"source","obj":"LitCoin-entities"},{"subj":"3475","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":"T12","span":{"begin":130,"end":144},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A12","pred":"mondo_id","subj":"T12","obj":"0021129"},{"subj":"T12","pred":"source","obj":"LitCoin_Mondo"}]},{"project":"LitCoin-GeneOrGeneProduct-v0","denotations":[{"id":"T38","span":{"begin":16,"end":24},"obj":"GeneOrGeneProduct"},{"id":"T39","span":{"begin":51,"end":55},"obj":"GeneOrGeneProduct"},{"id":"T40","span":{"begin":56,"end":70},"obj":"GeneOrGeneProduct"},{"id":"T41","span":{"begin":74,"end":79},"obj":"GeneOrGeneProduct"},{"id":"T42","span":{"begin":105,"end":109},"obj":"GeneOrGeneProduct"},{"id":"T43","span":{"begin":130,"end":144},"obj":"GeneOrGeneProduct"},{"id":"T44","span":{"begin":162,"end":171},"obj":"GeneOrGeneProduct"},{"id":"T45","span":{"begin":224,"end":229},"obj":"GeneOrGeneProduct"},{"id":"T46","span":{"begin":230,"end":239},"obj":"GeneOrGeneProduct"}],"attributes":[{"subj":"T38","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v0"},{"subj":"T39","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v0"},{"subj":"T40","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v0"},{"subj":"T41","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v0"},{"subj":"T42","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v0"},{"subj":"T43","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v0"},{"subj":"T44","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v0"},{"subj":"T45","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v0"},{"subj":"T46","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v0"}]},{"project":"LitCoin-GeneOrGeneProduct-v2","denotations":[{"id":"T21","span":{"begin":74,"end":79},"obj":"GeneOrGeneProduct"},{"id":"T22","span":{"begin":105,"end":109},"obj":"GeneOrGeneProduct"},{"id":"T23","span":{"begin":130,"end":144},"obj":"GeneOrGeneProduct"},{"id":"T24","span":{"begin":224,"end":229},"obj":"GeneOrGeneProduct"}],"attributes":[{"subj":"T21","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v2"},{"subj":"T22","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v2"},{"subj":"T23","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v2"},{"subj":"T24","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v2"}]},{"project":"LitCoin-Disease-MeSH","denotations":[{"id":"T17","span":{"begin":130,"end":144},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A17","pred":"originalLabel","subj":"T17","obj":"D008850"},{"subj":"T17","pred":"source","obj":"LitCoin-Disease-MeSH"}]},{"project":"LitCoin-GeneOrGeneProduct-v3","denotations":[{"id":"T8","span":{"begin":74,"end":79},"obj":"GeneOrGeneProduct"},{"id":"T9","span":{"begin":224,"end":229},"obj":"GeneOrGeneProduct"}],"attributes":[{"subj":"T8","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v3"},{"subj":"T9","pred":"source","obj":"LitCoin-GeneOrGeneProduct-v3"}]},{"project":"LitCoin_Mondo_095","denotations":[{"id":"T17","span":{"begin":130,"end":144},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A17","pred":"mondo_id","subj":"T17","obj":"0021129"},{"subj":"T17","pred":"source","obj":"LitCoin_Mondo_095"}]},{"project":"LitCoin-MeSH-Disease-2","denotations":[{"id":"T21","span":{"begin":105,"end":109},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T22","span":{"begin":130,"end":144},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A21","pred":"ID:","subj":"T21","obj":"DISEASE"},{"id":"A22","pred":"ID:","subj":"T22","obj":"D008850"},{"subj":"T21","pred":"source","obj":"LitCoin-MeSH-Disease-2"},{"subj":"T22","pred":"source","obj":"LitCoin-MeSH-Disease-2"}]},{"project":"LitCoin-MONDO_bioort2019","denotations":[{"id":"T19","span":{"begin":105,"end":109},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T20","span":{"begin":130,"end":144},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A19","pred":"#label","subj":"T19","obj":"DISEASE"},{"id":"A20","pred":"#label","subj":"T20","obj":"D008850"},{"subj":"T19","pred":"source","obj":"LitCoin-MONDO_bioort2019"},{"subj":"T20","pred":"source","obj":"LitCoin-MONDO_bioort2019"}]},{"project":"LitCoin-training-merged","denotations":[{"id":"T9","span":{"begin":224,"end":229},"obj":"GeneOrGeneProduct"},{"id":"T8","span":{"begin":74,"end":79},"obj":"GeneOrGeneProduct"},{"id":"T20","span":{"begin":130,"end":144},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T19","span":{"begin":105,"end":109},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A20","pred":"#label","subj":"T20","obj":"D008850"},{"id":"A19","pred":"#label","subj":"T19","obj":"DISEASE"},{"subj":"T9","pred":"source","obj":"LitCoin-training-merged"},{"subj":"T8","pred":"source","obj":"LitCoin-training-merged"},{"subj":"T20","pred":"source","obj":"LitCoin-training-merged"},{"subj":"T19","pred":"source","obj":"LitCoin-training-merged"}]},{"project":"sentences","denotations":[{"id":"TextSentencer_T10","span":{"begin":0,"end":240},"obj":"Sentence"},{"id":"T10","span":{"begin":0,"end":240},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"attributes":[{"subj":"TextSentencer_T10","pred":"source","obj":"sentences"},{"subj":"T10","pred":"source","obj":"sentences"}]},{"project":"DisGeNET","denotations":[{"id":"T8","span":{"begin":74,"end":79},"obj":"gene:10084"},{"id":"T9","span":{"begin":130,"end":144},"obj":"disease:C0026010"},{"id":"T10","span":{"begin":224,"end":229},"obj":"gene:10084"},{"id":"T11","span":{"begin":130,"end":144},"obj":"disease:C0026010"}],"relations":[{"id":"R5","pred":"associated_with","subj":"T8","obj":"T9"},{"id":"R6","pred":"associated_with","subj":"T10","obj":"T11"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"attributes":[{"subj":"T8","pred":"source","obj":"DisGeNET"},{"subj":"T9","pred":"source","obj":"DisGeNET"},{"subj":"T10","pred":"source","obj":"DisGeNET"},{"subj":"T11","pred":"source","obj":"DisGeNET"}]},{"project":"PubmedHPO","denotations":[{"id":"T14","span":{"begin":130,"end":144},"obj":"HP_0000568"}],"attributes":[{"subj":"T14","pred":"source","obj":"PubmedHPO"}]},{"project":"PubCasesHPO","denotations":[{"id":"AB7","span":{"begin":130,"end":144},"obj":"HP:0000568"}],"attributes":[{"subj":"AB7","pred":"source","obj":"PubCasesHPO"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"LitCoin-sentences","color":"#d293ec","default":true},{"id":"LitCoin-entities","color":"#93ecb8"},{"id":"LitCoin_Mondo","color":"#ec9e93"},{"id":"LitCoin-GeneOrGeneProduct-v0","color":"#93a1ec"},{"id":"LitCoin-GeneOrGeneProduct-v2","color":"#bbec93"},{"id":"LitCoin-Disease-MeSH","color":"#ec93d5"},{"id":"LitCoin-GeneOrGeneProduct-v3","color":"#93ece9"},{"id":"LitCoin_Mondo_095","color":"#eccf93"},{"id":"LitCoin-MeSH-Disease-2","color":"#b593ec"},{"id":"LitCoin-MONDO_bioort2019","color":"#93ec9a"},{"id":"LitCoin-training-merged","color":"#ec93a5"},{"id":"sentences","color":"#93bfec"},{"id":"DisGeNET","color":"#d9ec93"},{"id":"PubmedHPO","color":"#e593ec"},{"id":"PubCasesHPO","color":"#93eccb"}]}]}}