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PubMed:2303461 / 0-159 JSONTXT

Annnotations TAB JSON ListView MergeView

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.

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 96-126 HP_0008258 denotes Congenital adrenal hyperplasia
T2 107-126 HP_0008221 denotes adrenal hyperplasia

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

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
2303461-1#0#30#diseaseC0001627 96-126 diseaseC0001627 denotes Congenital adrenal hyperplasia

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 96-126 HP:0008258 denotes Congenital adrenal hyperplasia

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
T2 96-126 Disease denotes Congenital adrenal hyperplasia http://purl.obolibrary.org/obo/MONDO_0015898
T3 107-126 Disease denotes adrenal hyperplasia http://purl.obolibrary.org/obo/MONDO_0018479
T4 128-131 Disease denotes CAH http://purl.obolibrary.org/obo/MONDO_0018479|http://purl.obolibrary.org/obo/MONDO_0015898

Anatomy-UBERON

Id Subject Object Predicate Lexical cue uberon_id
T1 107-114 Body_part denotes adrenal http://purl.obolibrary.org/obo/UBERON_0002369

HP-phenotype

Id Subject Object Predicate Lexical cue hp_id
T1 96-126 Phenotype denotes Congenital adrenal hyperplasia HP:0008258
T2 128-131 Phenotype denotes CAH HP:0008258