PubMed:10029606 / 254-422 JSONTXT

{"project":"sentences","denotations":[{"id":"TextSentencer_T2","span":{"begin":0,"end":168},"obj":"Sentence"},{"id":"T2","span":{"begin":0,"end":168},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"X-linked sideroblastic anemia (XLSA) in four unrelated male probands was caused by missense mutations in the erythroid-specific 5-aminolevulinate synthase gene (ALAS2)."}

{"project":"PubCasesHPO","denotations":[{"id":"AB1","span":{"begin":9,"end":29},"obj":"HP:0001924"}],"text":"X-linked sideroblastic anemia (XLSA) in four unrelated male probands was caused by missense mutations in the erythroid-specific 5-aminolevulinate synthase gene (ALAS2)."}

{"project":"PubCasesORDO","denotations":[{"id":"AB1","span":{"begin":0,"end":29},"obj":"ORDO:75563"},{"id":"AB2","span":{"begin":31,"end":35},"obj":"ORDO:75563"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"text":"X-linked sideroblastic anemia (XLSA) in four unrelated male probands was caused by missense mutations in the erythroid-specific 5-aminolevulinate synthase gene (ALAS2)."}

{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":0,"end":8},"obj":"HP_0001417"},{"id":"T2","span":{"begin":9,"end":29},"obj":"HP_0001924"},{"id":"T3","span":{"begin":23,"end":29},"obj":"HP_0001903"}],"text":"X-linked sideroblastic anemia (XLSA) in four unrelated male probands was caused by missense mutations in the erythroid-specific 5-aminolevulinate synthase gene (ALAS2)."}

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":161,"end":166},"obj":"gene:212"},{"id":"T1","span":{"begin":0,"end":29},"obj":"disease:C0221018"},{"id":"T2","span":{"begin":161,"end":166},"obj":"gene:212"},{"id":"T3","span":{"begin":31,"end":35},"obj":"disease:C0221018"}],"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":"X-linked sideroblastic anemia (XLSA) in four unrelated male probands was caused by missense mutations in the erythroid-specific 5-aminolevulinate synthase gene (ALAS2)."}