PubMed:2303461 / 0-95
Annnotations
sentences
{"project":"sentences","denotations":[{"id":"T1","span":{"begin":0,"end":95},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":95},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"A missense mutation at Ile172----Asn or Arg356----Trp causes steroid 21-hydroxylase deficiency."}
DisGeNET5_variant_disease
{"project":"DisGeNET5_variant_disease","denotations":[{"id":"2303461-0#23#36#geners6475","span":{"begin":23,"end":36},"obj":"geners6475"},{"id":"2303461-0#40#53#geners7769409","span":{"begin":40,"end":53},"obj":"geners7769409"},{"id":"2303461-0#61#94#diseaseC0268287","span":{"begin":61,"end":94},"obj":"diseaseC0268287"}],"relations":[{"id":"23#36#geners647561#94#diseaseC0268287","pred":"associated_with","subj":"2303461-0#23#36#geners6475","obj":"2303461-0#61#94#diseaseC0268287"},{"id":"40#53#geners776940961#94#diseaseC0268287","pred":"associated_with","subj":"2303461-0#40#53#geners7769409","obj":"2303461-0#61#94#diseaseC0268287"}],"text":"A missense mutation at Ile172----Asn or Arg356----Trp causes steroid 21-hydroxylase deficiency."}
mondo_disease
{"project":"mondo_disease","denotations":[{"id":"T1","span":{"begin":69,"end":94},"obj":"Disease"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/MONDO_0008728"}],"text":"A missense mutation at Ile172----Asn or Arg356----Trp causes steroid 21-hydroxylase deficiency."}