PubMed:10029606 / 0-168
Annnotations
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"}],"relations":[{"id":"73#78#gene21293#122#diseaseC0221018","pred":"associated_with","subj":"10029606-0#73#78#gene212","obj":"10029606-0#93#122#diseaseC0221018"}],"text":"Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after re"}
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 re"}
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 re"}