PubMed:10029606 / 0-279
Annnotations
sentences
{"project":"sentences","denotations":[{"id":"TextSentencer_T1","span":{"begin":0,"end":253},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":253},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis.\nX-linked sideroblastic an"}
DisGeNET5_gene_disease
{"project":"DisGeNET5_gene_disease","denotations":[{"id":"10029606-0#73#78#gene212","span":{"begin":73,"end":78},"obj":"gene212"},{"id":"10029606-0#93#122#diseaseC0221018","span":{"begin":93,"end":122},"obj":"diseaseC0221018"},{"id":"10029606-0#177#190#diseaseC0282193","span":{"begin":177,"end":190},"obj":"diseaseC0282193"},{"id":"10029606-0#226#252#diseaseC0392514","span":{"begin":226,"end":252},"obj":"diseaseC0392514"}],"relations":[{"id":"73#78#gene21293#122#diseaseC0221018","pred":"associated_with","subj":"10029606-0#73#78#gene212","obj":"10029606-0#93#122#diseaseC0221018"},{"id":"73#78#gene212177#190#diseaseC0282193","pred":"associated_with","subj":"10029606-0#73#78#gene212","obj":"10029606-0#177#190#diseaseC0282193"},{"id":"73#78#gene212226#252#diseaseC0392514","pred":"associated_with","subj":"10029606-0#73#78#gene212","obj":"10029606-0#226#252#diseaseC0392514"}],"text":"Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis.\nX-linked sideroblastic an"}
PubCasesHPO
{"project":"PubCasesHPO","denotations":[{"id":"TI1","span":{"begin":102,"end":122},"obj":"HP:0001924"}],"text":"Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis.\nX-linked sideroblastic an"}
PubCasesORDO
{"project":"PubCasesORDO","denotations":[{"id":"TI1","span":{"begin":93,"end":122},"obj":"ORDO:75563"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"text":"Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis.\nX-linked sideroblastic an"}
PubmedHPO
{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":254,"end":262},"obj":"HP_0001417"}],"text":"Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis.\nX-linked sideroblastic an"}