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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.
T2 96-232 Sentence denotes Congenital adrenal hyperplasia (CAH) is a common recessive genetic disease caused mainly by steroid 21-hydroxylase (P450c21) deficiency.
T3 233-309 Sentence denotes Many forms of CAH exist resulting from various mutations of the CYP21B gene.
T4 310-412 Sentence denotes We sequenced CYP21B cDNA from a normal person and its genes from a patient with simple virilizing CAH.
T5 413-482 Sentence denotes When comparing several CYP21B sequences, we found it was polymorphic.
T6 483-636 Sentence denotes In the patient, a single base substitution replaced Ile172 (ATC) with Asn (AAC) in one allele while Arg356 (CGG) was converted to Trp (TGG) in the other.
T7 637-796 Sentence denotes A normal P450c21 cDNA clone was transfected into COS-1 cells to produce 21-hydroxylase activity toward its substrates, progesterone and 17-hydroxyprogesterone.
T8 797-923 Sentence denotes Mutants corresponding to Asn172 or Trp356 mutation were constructed by site-directed mutagenesis of the normal c21 cDNA clone.
T9 924-1067 Sentence denotes They failed to produce active enzyme toward either substrate upon transfection into COS-1 cells, demonstrating that these mutations caused CAH.
T10 1068-1214 Sentence denotes Aligning sequences with other P450s, Ile172 could be located in the membrane anchoring domain and Arg356 in the substrate-binding site of P450c21.
T11 1215-1350 Sentence denotes Both mutations are present in the CYP21A1P pseudogene, suggesting that they may be transferred from CYP21A1P by gene conversion events.
T1 0-95 Sentence denotes A missense mutation at Ile172----Asn or Arg356----Trp causes steroid 21-hydroxylase deficiency.
T2 96-232 Sentence denotes Congenital adrenal hyperplasia (CAH) is a common recessive genetic disease caused mainly by steroid 21-hydroxylase (P450c21) deficiency.
T3 233-309 Sentence denotes Many forms of CAH exist resulting from various mutations of the CYP21B gene.
T4 310-412 Sentence denotes We sequenced CYP21B cDNA from a normal person and its genes from a patient with simple virilizing CAH.
T5 413-482 Sentence denotes When comparing several CYP21B sequences, we found it was polymorphic.
T6 483-636 Sentence denotes In the patient, a single base substitution replaced Ile172 (ATC) with Asn (AAC) in one allele while Arg356 (CGG) was converted to Trp (TGG) in the other.
T7 637-796 Sentence denotes A normal P450c21 cDNA clone was transfected into COS-1 cells to produce 21-hydroxylase activity toward its substrates, progesterone and 17-hydroxyprogesterone.
T8 797-923 Sentence denotes Mutants corresponding to Asn172 or Trp356 mutation were constructed by site-directed mutagenesis of the normal c21 cDNA clone.
T9 924-1067 Sentence denotes They failed to produce active enzyme toward either substrate upon transfection into COS-1 cells, demonstrating that these mutations caused CAH.
T10 1068-1214 Sentence denotes Aligning sequences with other P450s, Ile172 could be located in the membrane anchoring domain and Arg356 in the substrate-binding site of P450c21.
T11 1215-1350 Sentence denotes Both mutations are present in the CYP21A1P pseudogene, suggesting that they may be transferred from CYP21A1P by gene conversion events.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 323-329 gene:1589 denotes CYP21B
T1 408-411 disease:C0520463 denotes CAH
R1 T0 T1 associated_with CYP21B,CAH

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#92#114#gene1589 188-210 gene1589 denotes steroid 21-hydroxylase
2303461-1#116#123#gene1589 212-219 gene1589 denotes P450c21
2303461-1#0#30#diseaseC0001627 96-126 diseaseC0001627 denotes Congenital adrenal hyperplasia
2303461-3#13#19#gene1589 323-329 gene1589 denotes CYP21B
2303461-3#98#101#diseaseC0520463 408-411 diseaseC0520463 denotes CAH
92#114#gene15890#30#diseaseC0001627 2303461-1#92#114#gene1589 2303461-1#0#30#diseaseC0001627 associated_with steroid 21-hydroxylase,Congenital adrenal hyperplasia
116#123#gene15890#30#diseaseC0001627 2303461-1#116#123#gene1589 2303461-1#0#30#diseaseC0001627 associated_with P450c21,Congenital adrenal hyperplasia
13#19#gene158998#101#diseaseC0520463 2303461-3#13#19#gene1589 2303461-3#98#101#diseaseC0520463 associated_with CYP21B,CAH

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
T6 155-170 Disease denotes genetic disease http://purl.obolibrary.org/obo/MONDO_0003847
T7 247-250 Disease denotes CAH http://purl.obolibrary.org/obo/MONDO_0018479|http://purl.obolibrary.org/obo/MONDO_0015898
T9 408-411 Disease denotes CAH http://purl.obolibrary.org/obo/MONDO_0018479|http://purl.obolibrary.org/obo/MONDO_0015898
T11 1063-1066 Disease denotes CAH http://purl.obolibrary.org/obo/MONDO_0018479|http://purl.obolibrary.org/obo/MONDO_0015898

NCBITAXON

Id Subject Object Predicate Lexical cue db_id
T1 377-384 OrganismTaxon denotes patient 9606
T2 490-497 OrganismTaxon denotes patient 9606

Anatomy-UBERON

Id Subject Object Predicate Lexical cue uberon_id
T1 107-114 Body_part denotes adrenal http://purl.obolibrary.org/obo/UBERON_0002369
T2 1136-1144 Body_part denotes membrane http://purl.obolibrary.org/obo/GO_0016020|http://purl.obolibrary.org/obo/UBERON_0000094|http://purl.obolibrary.org/obo/UBERON_0000158

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
T3 247-250 Phenotype denotes CAH HP:0008258
T4 408-411 Phenotype denotes CAH HP:0008258
T5 1063-1066 Phenotype denotes CAH HP:0008258