PubMed:17059986 / 0-231
Annnotations
LitCoin-sentences
{"project":"LitCoin-sentences","denotations":[{"id":"T1","span":{"begin":0,"end":112},"obj":"Sentence"}],"text":"A novel splicing mutation in SLC12A3 associated with Gitelman syndrome and idiopathic intracranial hypertension.\nWe report a case of Gitelman syndrome (GS) in a dizygotic twin who presented at 12 years of age with growth delay, met"}
LitCoin-entities
{"project":"LitCoin-entities","denotations":[{"id":"3530","span":{"begin":29,"end":36},"obj":"GeneOrGeneProduct"},{"id":"3531","span":{"begin":53,"end":70},"obj":"DiseaseOrPhenotypicFeature"},{"id":"3532","span":{"begin":75,"end":111},"obj":"DiseaseOrPhenotypicFeature"},{"id":"3533","span":{"begin":133,"end":150},"obj":"DiseaseOrPhenotypicFeature"},{"id":"3534","span":{"begin":152,"end":154},"obj":"DiseaseOrPhenotypicFeature"},{"id":"3535","span":{"begin":214,"end":226},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"db_id","subj":"3530","obj":"NCBIGene:6559"},{"id":"A2","pred":"db_id","subj":"3531","obj":"MESH:D053579"},{"id":"A3","pred":"db_id","subj":"3532","obj":"MESH:D011559"},{"id":"A4","pred":"db_id","subj":"3533","obj":"MESH:D053579"},{"id":"A5","pred":"db_id","subj":"3534","obj":"MESH:D053579"},{"id":"A6","pred":"db_id","subj":"3535","obj":"MESH:D006130"}],"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 novel splicing mutation in SLC12A3 associated with Gitelman syndrome and idiopathic intracranial hypertension.\nWe report a case of Gitelman syndrome (GS) in a dizygotic twin who presented at 12 years of age with growth delay, met"}
LitCoin_Mondo
{"project":"LitCoin_Mondo","denotations":[{"id":"T1","span":{"begin":53,"end":70},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":75,"end":85},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":86,"end":111},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":133,"end":150},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"0009904"},{"id":"A2","pred":"mondo_id","subj":"T2","obj":"0700005"},{"id":"A3","pred":"mondo_id","subj":"T3","obj":"0006810"},{"id":"A4","pred":"mondo_id","subj":"T4","obj":"0009904"}],"text":"A novel splicing mutation in SLC12A3 associated with Gitelman syndrome and idiopathic intracranial hypertension.\nWe report a case of Gitelman syndrome (GS) in a dizygotic twin who presented at 12 years of age with growth delay, met"}
LitCoin-GeneOrGeneProduct-v2
{"project":"LitCoin-GeneOrGeneProduct-v2","denotations":[{"id":"T1","span":{"begin":2,"end":7},"obj":"GeneOrGeneProduct"},{"id":"T2","span":{"begin":29,"end":36},"obj":"GeneOrGeneProduct"},{"id":"T3","span":{"begin":62,"end":70},"obj":"GeneOrGeneProduct"},{"id":"T4","span":{"begin":99,"end":111},"obj":"GeneOrGeneProduct"},{"id":"T5","span":{"begin":142,"end":150},"obj":"GeneOrGeneProduct"},{"id":"T6","span":{"begin":171,"end":175},"obj":"GeneOrGeneProduct"},{"id":"T7","span":{"begin":214,"end":220},"obj":"GeneOrGeneProduct"}],"text":"A novel splicing mutation in SLC12A3 associated with Gitelman syndrome and idiopathic intracranial hypertension.\nWe report a case of Gitelman syndrome (GS) in a dizygotic twin who presented at 12 years of age with growth delay, met"}
LitCoin-GeneOrGeneProduct-v0
{"project":"LitCoin-GeneOrGeneProduct-v0","denotations":[{"id":"T1","span":{"begin":2,"end":7},"obj":"GeneOrGeneProduct"},{"id":"T2","span":{"begin":8,"end":16},"obj":"GeneOrGeneProduct"},{"id":"T3","span":{"begin":17,"end":25},"obj":"GeneOrGeneProduct"},{"id":"T4","span":{"begin":29,"end":36},"obj":"GeneOrGeneProduct"},{"id":"T5","span":{"begin":62,"end":70},"obj":"GeneOrGeneProduct"},{"id":"T6","span":{"begin":99,"end":111},"obj":"GeneOrGeneProduct"},{"id":"T7","span":{"begin":125,"end":129},"obj":"GeneOrGeneProduct"},{"id":"T8","span":{"begin":142,"end":150},"obj":"GeneOrGeneProduct"},{"id":"T9","span":{"begin":152,"end":154},"obj":"GeneOrGeneProduct"},{"id":"T10","span":{"begin":156,"end":160},"obj":"GeneOrGeneProduct"},{"id":"T11","span":{"begin":171,"end":175},"obj":"GeneOrGeneProduct"},{"id":"T12","span":{"begin":196,"end":201},"obj":"GeneOrGeneProduct"},{"id":"T13","span":{"begin":214,"end":220},"obj":"GeneOrGeneProduct"}],"text":"A novel splicing mutation in SLC12A3 associated with Gitelman syndrome and idiopathic intracranial hypertension.\nWe report a case of Gitelman syndrome (GS) in a dizygotic twin who presented at 12 years of age with growth delay, met"}
LitCoin-Disease-MeSH
{"project":"LitCoin-Disease-MeSH","denotations":[{"id":"T1","span":{"begin":53,"end":70},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":75,"end":111},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":133,"end":150},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":152,"end":154},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"originalLabel","subj":"T1","obj":"D053579"},{"id":"A2","pred":"originalLabel","subj":"T2","obj":"D011559"},{"id":"A3","pred":"originalLabel","subj":"T3","obj":"D053579"},{"id":"A4","pred":"originalLabel","subj":"T4","obj":"D053579"}],"text":"A novel splicing mutation in SLC12A3 associated with Gitelman syndrome and idiopathic intracranial hypertension.\nWe report a case of Gitelman syndrome (GS) in a dizygotic twin who presented at 12 years of age with growth delay, met"}
LitCoin-GeneOrGeneProduct-v3
{"project":"LitCoin-GeneOrGeneProduct-v3","denotations":[{"id":"T1","span":{"begin":29,"end":36},"obj":"GeneOrGeneProduct"}],"text":"A novel splicing mutation in SLC12A3 associated with Gitelman syndrome and idiopathic intracranial hypertension.\nWe report a case of Gitelman syndrome (GS) in a dizygotic twin who presented at 12 years of age with growth delay, met"}
LitCoin_Mondo_095
{"project":"LitCoin_Mondo_095","denotations":[{"id":"T1","span":{"begin":53,"end":70},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":75,"end":111},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":133,"end":150},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":152,"end":154},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"0009904"},{"id":"A2","pred":"mondo_id","subj":"T2","obj":"0009468"},{"id":"A3","pred":"mondo_id","subj":"T3","obj":"0009904"},{"id":"A4","pred":"mondo_id","subj":"T4","obj":"0005773"},{"id":"A5","pred":"mondo_id","subj":"T4","obj":"0009904"}],"text":"A novel splicing mutation in SLC12A3 associated with Gitelman syndrome and idiopathic intracranial hypertension.\nWe report a case of Gitelman syndrome (GS) in a dizygotic twin who presented at 12 years of age with growth delay, met"}
LitCoin-MeSH-Disease-2
{"project":"LitCoin-MeSH-Disease-2","denotations":[{"id":"T1","span":{"begin":53,"end":70},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":75,"end":111},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":133,"end":150},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":152,"end":154},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T5","span":{"begin":214,"end":226},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"ID:","subj":"T1","obj":"D053579"},{"id":"A2","pred":"ID:","subj":"T2","obj":"D011559"},{"id":"A3","pred":"ID:","subj":"T3","obj":"D053579"},{"id":"A4","pred":"ID:","subj":"T4","obj":"D053579"},{"id":"A5","pred":"ID:","subj":"T5","obj":"DISEASE"}],"text":"A novel splicing mutation in SLC12A3 associated with Gitelman syndrome and idiopathic intracranial hypertension.\nWe report a case of Gitelman syndrome (GS) in a dizygotic twin who presented at 12 years of age with growth delay, met"}
LitCoin-MONDO_bioort2019
{"project":"LitCoin-MONDO_bioort2019","denotations":[{"id":"T1","span":{"begin":53,"end":70},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":75,"end":111},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":133,"end":150},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":152,"end":154},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T5","span":{"begin":214,"end":226},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"#label","subj":"T1","obj":"D053579"},{"id":"A2","pred":"#label","subj":"T2","obj":"D011559"},{"id":"A3","pred":"#label","subj":"T3","obj":"D053579"},{"id":"A4","pred":"#label","subj":"T4","obj":"D053579"},{"id":"A5","pred":"#label","subj":"T5","obj":"DISEASE"}],"text":"A novel splicing mutation in SLC12A3 associated with Gitelman syndrome and idiopathic intracranial hypertension.\nWe report a case of Gitelman syndrome (GS) in a dizygotic twin who presented at 12 years of age with growth delay, met"}
LitCoin-training-merged
{"project":"LitCoin-training-merged","denotations":[{"id":"T21958","span":{"begin":29,"end":36},"obj":"GeneOrGeneProduct"},{"id":"T41383","span":{"begin":214,"end":226},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":152,"end":154},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T75669","span":{"begin":133,"end":150},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T63087","span":{"begin":75,"end":111},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T73539","span":{"begin":53,"end":70},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A71003","pred":"#label","subj":"T41383","obj":"DISEASE"},{"id":"A87042","pred":"#label","subj":"T4","obj":"D053579"},{"id":"A43868","pred":"#label","subj":"T75669","obj":"D053579"},{"id":"A42465","pred":"#label","subj":"T63087","obj":"D011559"},{"id":"A106","pred":"#label","subj":"T73539","obj":"D053579"}],"text":"A novel splicing mutation in SLC12A3 associated with Gitelman syndrome and idiopathic intracranial hypertension.\nWe report a case of Gitelman syndrome (GS) in a dizygotic twin who presented at 12 years of age with growth delay, met"}
sentences
{"project":"sentences","denotations":[{"id":"TextSentencer_T1","span":{"begin":0,"end":112},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":112},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"A novel splicing mutation in SLC12A3 associated with Gitelman syndrome and idiopathic intracranial hypertension.\nWe report a case of Gitelman syndrome (GS) in a dizygotic twin who presented at 12 years of age with growth delay, met"}
DisGeNET
{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":29,"end":36},"obj":"gene:6559"},{"id":"T1","span":{"begin":53,"end":70},"obj":"disease:C0268450"},{"id":"T2","span":{"begin":29,"end":36},"obj":"gene:6559"},{"id":"T3","span":{"begin":75,"end":111},"obj":"disease:C0033845"}],"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":"A novel splicing mutation in SLC12A3 associated with Gitelman syndrome and idiopathic intracranial hypertension.\nWe report a case of Gitelman syndrome (GS) in a dizygotic twin who presented at 12 years of age with growth delay, met"}
PubmedHPO
{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":214,"end":226},"obj":"HP_0001510"}],"text":"A novel splicing mutation in SLC12A3 associated with Gitelman syndrome and idiopathic intracranial hypertension.\nWe report a case of Gitelman syndrome (GS) in a dizygotic twin who presented at 12 years of age with growth delay, met"}
DisGeNET5_gene_disease
{"project":"DisGeNET5_gene_disease","denotations":[{"id":"17059986-0#29#36#gene6559","span":{"begin":29,"end":36},"obj":"gene6559"},{"id":"17059986-0#53#70#diseaseC0268450","span":{"begin":53,"end":70},"obj":"diseaseC0268450"},{"id":"17059986-0#75#111#diseaseC0033845","span":{"begin":75,"end":111},"obj":"diseaseC0033845"}],"relations":[{"id":"29#36#gene655953#70#diseaseC0268450","pred":"associated_with","subj":"17059986-0#29#36#gene6559","obj":"17059986-0#53#70#diseaseC0268450"},{"id":"29#36#gene655975#111#diseaseC0033845","pred":"associated_with","subj":"17059986-0#29#36#gene6559","obj":"17059986-0#75#111#diseaseC0033845"}],"text":"A novel splicing mutation in SLC12A3 associated with Gitelman syndrome and idiopathic intracranial hypertension.\nWe report a case of Gitelman syndrome (GS) in a dizygotic twin who presented at 12 years of age with growth delay, met"}
PubCasesHPO
{"project":"PubCasesHPO","denotations":[{"id":"TI1","span":{"begin":99,"end":111},"obj":"HP:0000822"},{"id":"AB1","span":{"begin":214,"end":226},"obj":"HP:0001510"}],"text":"A novel splicing mutation in SLC12A3 associated with Gitelman syndrome and idiopathic intracranial hypertension.\nWe report a case of Gitelman syndrome (GS) in a dizygotic twin who presented at 12 years of age with growth delay, met"}
PubCasesORDO
{"project":"PubCasesORDO","denotations":[{"id":"AB1","span":{"begin":133,"end":150},"obj":"ORDO:358"},{"id":"TI1","span":{"begin":53,"end":70},"obj":"ORDO:358"},{"id":"TI2","span":{"begin":75,"end":111},"obj":"ORDO:238624"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"text":"A novel splicing mutation in SLC12A3 associated with Gitelman syndrome and idiopathic intracranial hypertension.\nWe report a case of Gitelman syndrome (GS) in a dizygotic twin who presented at 12 years of age with growth delay, met"}