PubMed:1577745 / 235-394 JSONTXT

{"project":"sentences","denotations":[{"id":"T3","span":{"begin":0,"end":159},"obj":"Sentence"},{"id":"T3","span":{"begin":0,"end":159},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"We have shown that a child with Ehlers Danlos syndrome (EDS) type VII has a G to A transition at the first nucleotide of intron 6 in one of her COL1A2 alleles."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"1577745-1#144#150#gene1278","span":{"begin":144,"end":150},"obj":"gene1278"},{"id":"1577745-1#32#54#diseaseC0013720","span":{"begin":32,"end":54},"obj":"diseaseC0013720"},{"id":"1577745-1#56#59#diseaseC0013720","span":{"begin":56,"end":59},"obj":"diseaseC0013720"}],"relations":[{"id":"144#150#gene127832#54#diseaseC0013720","pred":"associated_with","subj":"1577745-1#144#150#gene1278","obj":"1577745-1#32#54#diseaseC0013720"},{"id":"144#150#gene127856#59#diseaseC0013720","pred":"associated_with","subj":"1577745-1#144#150#gene1278","obj":"1577745-1#56#59#diseaseC0013720"}],"text":"We have shown that a child with Ehlers Danlos syndrome (EDS) type VII has a G to A transition at the first nucleotide of intron 6 in one of her COL1A2 alleles."}

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":144,"end":150},"obj":"gene:1278"},{"id":"T1","span":{"begin":32,"end":54},"obj":"disease:C0013720"},{"id":"T2","span":{"begin":144,"end":150},"obj":"gene:1278"},{"id":"T3","span":{"begin":56,"end":59},"obj":"disease:C0013720"}],"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":"We have shown that a child with Ehlers Danlos syndrome (EDS) type VII has a G to A transition at the first nucleotide of intron 6 in one of her COL1A2 alleles."}

{"project":"mondo_disease","denotations":[{"id":"T2","span":{"begin":32,"end":54},"obj":"Disease"},{"id":"T3","span":{"begin":56,"end":59},"obj":"Disease"}],"attributes":[{"id":"A2","pred":"mondo_id","subj":"T2","obj":"http://purl.obolibrary.org/obo/MONDO_0020066"},{"id":"A3","pred":"mondo_id","subj":"T3","obj":"http://purl.obolibrary.org/obo/MONDO_0020066"}],"text":"We have shown that a child with Ehlers Danlos syndrome (EDS) type VII has a G to A transition at the first nucleotide of intron 6 in one of her COL1A2 alleles."}