PubMed:10078749 / 0-146
Annnotations
DisGeNET5_gene_disease
{"project":"DisGeNET5_gene_disease","denotations":[{"id":"10078749-0#0#4#gene2643","span":{"begin":0,"end":4},"obj":"gene2643"},{"id":"10078749-0#58#66#diseaseC0013421","span":{"begin":58,"end":66},"obj":"diseaseC0013421"},{"id":"10078749-0#58#66#diseaseC0393593","span":{"begin":58,"end":66},"obj":"diseaseC0393593"}],"relations":[{"id":"0#4#gene264358#66#diseaseC0013421","pred":"associated_with","subj":"10078749-0#0#4#gene2643","obj":"10078749-0#58#66#diseaseC0013421"},{"id":"0#4#gene264358#66#diseaseC0393593","pred":"associated_with","subj":"10078749-0#0#4#gene2643","obj":"10078749-0#58#66#diseaseC0393593"}],"text":"GCH1 mutation in a patient with adult-onset oromandibular dystonia.\nThe authors report a mutation in exon 5 of GCH1 in a patient with adult-onset "}
PubCasesHPO
{"project":"PubCasesHPO","denotations":[{"id":"TI1","span":{"begin":44,"end":66},"obj":"HP:0012048"}],"text":"GCH1 mutation in a patient with adult-onset oromandibular dystonia.\nThe authors report a mutation in exon 5 of GCH1 in a patient with adult-onset "}
PubCasesORDO
{"project":"PubCasesORDO","denotations":[{"id":"TI1","span":{"begin":44,"end":66},"obj":"ORDO:93958"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"text":"GCH1 mutation in a patient with adult-onset oromandibular dystonia.\nThe authors report a mutation in exon 5 of GCH1 in a patient with adult-onset "}
sentences
{"project":"sentences","denotations":[{"id":"TextSentencer_T1","span":{"begin":0,"end":67},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":67},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"GCH1 mutation in a patient with adult-onset oromandibular dystonia.\nThe authors report a mutation in exon 5 of GCH1 in a patient with adult-onset "}
NCBIDiseaseCorpus
{"project":"NCBIDiseaseCorpus","denotations":[{"id":"T1","span":{"begin":44,"end":66},"obj":"SpecificDisease:D008538"}],"text":"GCH1 mutation in a patient with adult-onset oromandibular dystonia.\nThe authors report a mutation in exon 5 of GCH1 in a patient with adult-onset "}
DisGeNET
{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":111,"end":115},"obj":"gene:2643"},{"id":"T2","span":{"begin":111,"end":115},"obj":"gene:2643"},{"id":"T4","span":{"begin":111,"end":115},"obj":"gene:2643"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"GCH1 mutation in a patient with adult-onset oromandibular dystonia.\nThe authors report a mutation in exon 5 of GCH1 in a patient with adult-onset "}