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PubMed:2303461 / 0-95 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
T1 0-95 Sentence denotes A missense mutation at Ile172----Asn or Arg356----Trp causes steroid 21-hydroxylase deficiency.
T1 0-95 Sentence denotes A missense mutation at Ile172----Asn or Arg356----Trp causes steroid 21-hydroxylase deficiency.

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
2303461-0#23#36#geners6475 23-36 geners6475 denotes Ile172----Asn
2303461-0#40#53#geners7769409 40-53 geners7769409 denotes Arg356----Trp
2303461-0#61#94#diseaseC0268287 61-94 diseaseC0268287 denotes steroid 21-hydroxylase deficiency
23#36#geners647561#94#diseaseC0268287 2303461-0#23#36#geners6475 2303461-0#61#94#diseaseC0268287 associated_with Ile172----Asn,steroid 21-hydroxylase deficiency
40#53#geners776940961#94#diseaseC0268287 2303461-0#40#53#geners7769409 2303461-0#61#94#diseaseC0268287 associated_with Arg356----Trp,steroid 21-hydroxylase deficiency

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T1 69-94 Disease denotes 21-hydroxylase deficiency http://purl.obolibrary.org/obo/MONDO_0008728