PubMed:17033686 / 1419-1659 JSONTXT

{"project":"LitCoin-sentences","denotations":[{"id":"T10","span":{"begin":0,"end":240},"obj":"Sentence"}],"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."}

{"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"}],"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":"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."}

{"project":"LitCoin_Mondo","denotations":[{"id":"T12","span":{"begin":130,"end":144},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A12","pred":"mondo_id","subj":"T12","obj":"0021129"}],"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."}

{"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"}],"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."}

{"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"}],"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."}

{"project":"LitCoin-Disease-MeSH","denotations":[{"id":"T17","span":{"begin":130,"end":144},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A17","pred":"originalLabel","subj":"T17","obj":"D008850"}],"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."}

{"project":"LitCoin-GeneOrGeneProduct-v3","denotations":[{"id":"T8","span":{"begin":74,"end":79},"obj":"GeneOrGeneProduct"},{"id":"T9","span":{"begin":224,"end":229},"obj":"GeneOrGeneProduct"}],"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."}

{"project":"LitCoin_Mondo_095","denotations":[{"id":"T17","span":{"begin":130,"end":144},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A17","pred":"mondo_id","subj":"T17","obj":"0021129"}],"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."}

{"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"}],"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."}

{"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"}],"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."}

{"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"}],"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."}

{"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#"}],"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."}

{"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/"}],"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."}

{"project":"PubmedHPO","denotations":[{"id":"T14","span":{"begin":130,"end":144},"obj":"HP_0000568"}],"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."}

{"project":"PubCasesHPO","denotations":[{"id":"AB7","span":{"begin":130,"end":144},"obj":"HP:0000568"}],"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."}