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PubMed:15064320 JSONTXT

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LitCoin-entities

Id Subject Object Predicate Lexical cue db_id
620 39-45 GeneOrGeneProduct denotes SRD5A2 NCBIGene:6716
621 63-87 DiseaseOrPhenotypicFeature denotes male pseudohermaphrodite MESH:D058490
622 88-95 OrganismTaxon denotes patient NCBITaxon:9606
623 153-177 GeneOrGeneProduct denotes 5-alpha-reductase type 2 NCBIGene:6716
624 184-190 GeneOrGeneProduct denotes SRD5A2 NCBIGene:6716
625 206-230 DiseaseOrPhenotypicFeature denotes male pseudohermaphrodite MESH:D058490
626 232-235 DiseaseOrPhenotypicFeature denotes MPH MESH:D058490
627 237-244 OrganismTaxon denotes patient NCBITaxon:9606
628 257-269 ChemicalEntity denotes testosterone MESH:D013739
629 271-272 ChemicalEntity denotes T MESH:D013739
630 296-313 GeneOrGeneProduct denotes androgen receptor NCBIGene:367
631 315-317 GeneOrGeneProduct denotes AR NCBIGene:367
632 344-351 OrganismTaxon denotes patient NCBITaxon:9606
633 439-440 ChemicalEntity denotes T MESH:D013739
634 457-485 ChemicalEntity denotes human chorionic gonadotropin MESH:D006063
635 487-490 ChemicalEntity denotes hCG MESH:D006063
636 559-561 GeneOrGeneProduct denotes AR NCBIGene:367
637 588-594 GeneOrGeneProduct denotes SRD5A2 NCBIGene:6716
638 642-644 GeneOrGeneProduct denotes AR NCBIGene:367
639 680-686 GeneOrGeneProduct denotes SRD5A2 NCBIGene:6716
640 786-860 SequenceVariant denotes T nucleotide deletion, which predicts a frameshift mutation from codon 219 c|DEL|CODON219|T
641 929-959 SequenceVariant denotes guanine (CGA) by adenine (CAA) DBSNP:rs9332964
642 971-1004 SequenceVariant denotes glutamine replacement of arginine DBSNP:rs9332964
643 1006-1011 SequenceVariant denotes R227Q DBSNP:rs9332964
644 1091-1098 OrganismTaxon denotes patient NCBITaxon:9606
645 1131-1137 GeneOrGeneProduct denotes SRD5A2 NCBIGene:6716
646 1185-1192 OrganismTaxon denotes patient NCBITaxon:9606
647 1203-1208 SequenceVariant denotes R227Q DBSNP:rs9332964
648 1269-1272 DiseaseOrPhenotypicFeature denotes MPH MESH:D058490
649 1273-1281 OrganismTaxon denotes patients NCBITaxon:9606
650 1323-1330 SequenceVariant denotes Tdel219 c|DEL|CODON219|T
651 1389-1406 GeneOrGeneProduct denotes 5-alpha-reductase NCBIGene:6716

LitCoin-sentences

Id Subject Object Predicate Lexical cue
T1 0-114 Sentence denotes Compound heterozygous mutations in the SRD5A2 gene exon 4 in a male pseudohermaphrodite patient of Chinese origin.
T2 115-341 Sentence denotes The goal of this study was to perform 5-alpha-reductase type 2 gene (SRD5A2) analysis in a male pseudohermaphrodite (MPH) patient with normal testosterone (T) production and normal androgen receptor (AR) gene coding sequences.
T3 342-541 Sentence denotes A patient of Chinese origin with ambiguous genitalia at 14 months, a 46,XY karyotype, and normal T secretion under human chorionic gonadotropin (hCG) stimulation underwent a gonadectomy at 20 months.
T4 542-641 Sentence denotes Exons 1-8 of the AR gene and exons 1-5 of the SRD5A2 gene were sequenced from peripheral blood DNA.
T5 642-679 Sentence denotes AR gene coding sequences were normal.
T6 680-780 Sentence denotes SRD5A2 gene analysis revealed 2 consecutive mutations in exon 4, each located in a different allele:
T7 781-1013 Sentence denotes 1) a T nucleotide deletion, which predicts a frameshift mutation from codon 219, and 2) a missense mutation at codon 227, where the substitution of guanine (CGA) by adenine (CAA) predicts a glutamine replacement of arginine (R227Q).
T8 1014-1086 Sentence denotes Testes located in the inguinal canal showed a normal morphology for age.
T9 1087-1180 Sentence denotes The patient was a compound heterozygote for SRD5A2 mutations, carrying 2 mutations in exon 4.
T10 1181-1331 Sentence denotes The patient showed an R227Q mutation that has been described in an Asian population and MPH patients, along with a novel frameshift mutation, Tdel219.
T11 1332-1483 Sentence denotes Testis morphology showed that, during early infancy, the 5-alpha-reductase enzyme deficiency may not have affected interstitial or tubular development.

LitCoin-entities-OrganismTaxon-PD

Id Subject Object Predicate Lexical cue db_id
T1 457-462 OrganismTaxon denotes human NCBItxid:9606
T2 851-856 OrganismTaxon denotes codon NCBItxid:79338
T3 892-897 OrganismTaxon denotes codon NCBItxid:79338

LitCoin-SeqVar

Id Subject Object Predicate Lexical cue
T1 1006-1011 SequenceVariant denotes R227Q
T2 1203-1208 SequenceVariant denotes R227Q
T3 1323-1330 SequenceVariant denotes Tdel219

LitCoin_Mondo

Id Subject Object Predicate Lexical cue mondo_id
T1 68-87 DiseaseOrPhenotypicFeature denotes pseudohermaphrodite 0005518
T2 211-230 DiseaseOrPhenotypicFeature denotes pseudohermaphrodite 0005518

LitCoin-GeneOrGeneProduct-v0

Id Subject Object Predicate Lexical cue
T1 22-31 GeneOrGeneProduct denotes mutations
T2 39-45 GeneOrGeneProduct denotes SRD5A2
T3 58-62 GeneOrGeneProduct denotes in a
T4 63-67 GeneOrGeneProduct denotes male
T5 155-160 GeneOrGeneProduct denotes alpha
T6 161-170 GeneOrGeneProduct denotes reductase
T7 171-177 GeneOrGeneProduct denotes type 2
T8 184-190 GeneOrGeneProduct denotes SRD5A2
T9 201-205 GeneOrGeneProduct denotes in a
T10 206-210 GeneOrGeneProduct denotes male
T11 274-284 GeneOrGeneProduct denotes production
T12 296-313 GeneOrGeneProduct denotes androgen receptor
T13 315-317 GeneOrGeneProduct denotes AR
T14 375-384 GeneOrGeneProduct denotes ambiguous
T15 441-450 GeneOrGeneProduct denotes secretion
T16 463-472 GeneOrGeneProduct denotes chorionic
T17 559-561 GeneOrGeneProduct denotes AR
T18 588-594 GeneOrGeneProduct denotes SRD5A2
T19 642-644 GeneOrGeneProduct denotes AR
T20 680-686 GeneOrGeneProduct denotes SRD5A2
T21 724-733 GeneOrGeneProduct denotes mutations
T22 758-762 GeneOrGeneProduct denotes in a
T23 815-823 GeneOrGeneProduct denotes predicts
T24 837-845 GeneOrGeneProduct denotes mutation
T25 862-867 GeneOrGeneProduct denotes and 2
T26 871-879 GeneOrGeneProduct denotes missense
T27 880-888 GeneOrGeneProduct denotes mutation
T28 960-968 GeneOrGeneProduct denotes predicts
T29 971-980 GeneOrGeneProduct denotes glutamine
T30 1014-1020 GeneOrGeneProduct denotes Testes
T31 1131-1137 GeneOrGeneProduct denotes SRD5A2
T32 1138-1147 GeneOrGeneProduct denotes mutations
T33 1160-1169 GeneOrGeneProduct denotes mutations
T34 1209-1222 GeneOrGeneProduct denotes mutation that
T35 1296-1301 GeneOrGeneProduct denotes novel
T36 1313-1321 GeneOrGeneProduct denotes mutation
T37 1332-1338 GeneOrGeneProduct denotes Testis
T38 1370-1375 GeneOrGeneProduct denotes early
T39 1391-1396 GeneOrGeneProduct denotes alpha
T40 1397-1406 GeneOrGeneProduct denotes reductase
T41 1407-1413 GeneOrGeneProduct denotes enzyme

LitCoin-GeneOrGeneProduct-v2

Id Subject Object Predicate Lexical cue
T1 39-45 GeneOrGeneProduct denotes SRD5A2
T2 155-160 GeneOrGeneProduct denotes alpha
T3 161-170 GeneOrGeneProduct denotes reductase
T4 171-177 GeneOrGeneProduct denotes type 2
T5 184-190 GeneOrGeneProduct denotes SRD5A2
T6 296-313 GeneOrGeneProduct denotes androgen receptor
T7 315-317 GeneOrGeneProduct denotes AR
T8 375-384 GeneOrGeneProduct denotes ambiguous
T9 559-561 GeneOrGeneProduct denotes AR
T10 588-594 GeneOrGeneProduct denotes SRD5A2
T11 642-644 GeneOrGeneProduct denotes AR
T12 680-686 GeneOrGeneProduct denotes SRD5A2
T13 971-980 GeneOrGeneProduct denotes glutamine
T14 1131-1137 GeneOrGeneProduct denotes SRD5A2
T15 1296-1301 GeneOrGeneProduct denotes novel
T16 1332-1338 GeneOrGeneProduct denotes Testis
T17 1370-1375 GeneOrGeneProduct denotes early
T18 1391-1396 GeneOrGeneProduct denotes alpha
T19 1397-1406 GeneOrGeneProduct denotes reductase
T20 1407-1413 GeneOrGeneProduct denotes enzyme

LitCoin-Disease-MeSH

Id Subject Object Predicate Lexical cue originalLabel
T1 63-87 DiseaseOrPhenotypicFeature denotes male pseudohermaphrodite D058490
T2 206-230 DiseaseOrPhenotypicFeature denotes male pseudohermaphrodite D058490
T3 232-235 DiseaseOrPhenotypicFeature denotes MPH D058490
T4 296-304 DiseaseOrPhenotypicFeature denotes androgen D014770
T5 375-394 DiseaseOrPhenotypicFeature denotes ambiguous genitalia D012734
T6 1269-1272 DiseaseOrPhenotypicFeature denotes MPH D058490

LitCoin-GeneOrGeneProduct-v3

Id Subject Object Predicate Lexical cue
T1 39-45 GeneOrGeneProduct denotes SRD5A2
T2 155-160 GeneOrGeneProduct denotes alpha
T3 161-170 GeneOrGeneProduct denotes reductase
T4 184-190 GeneOrGeneProduct denotes SRD5A2
T5 296-313 GeneOrGeneProduct denotes androgen receptor
T6 315-317 GeneOrGeneProduct denotes AR
T7 375-384 GeneOrGeneProduct denotes ambiguous
T8 559-561 GeneOrGeneProduct denotes AR
T9 588-594 GeneOrGeneProduct denotes SRD5A2
T10 642-644 GeneOrGeneProduct denotes AR
T11 680-686 GeneOrGeneProduct denotes SRD5A2
T12 1131-1137 GeneOrGeneProduct denotes SRD5A2
T13 1332-1338 GeneOrGeneProduct denotes Testis
T14 1391-1396 GeneOrGeneProduct denotes alpha
T15 1397-1406 GeneOrGeneProduct denotes reductase

LitCoin_Mondo_095

Id Subject Object Predicate Lexical cue mondo_id
T1 487-490 DiseaseOrPhenotypicFeature denotes hCG 0010614
T2 955-958 DiseaseOrPhenotypicFeature denotes CAA 0011921

LitCoin-NCBITaxon-2

Id Subject Object Predicate Lexical cue
T1 88-95 OrganismTaxon denotes patient
T2 237-244 OrganismTaxon denotes patient
T3 344-351 OrganismTaxon denotes patient
T4 457-462 OrganismTaxon denotes human
T5 1091-1098 OrganismTaxon denotes patient
T6 1185-1192 OrganismTaxon denotes patient
T7 1273-1281 OrganismTaxon denotes patients

LitCoin-MeSH-Disease-2

Id Subject Object Predicate Lexical cue ID:
T1 63-87 DiseaseOrPhenotypicFeature denotes male pseudohermaphrodite D058490
T2 206-230 DiseaseOrPhenotypicFeature denotes male pseudohermaphrodite D058490
T3 232-235 DiseaseOrPhenotypicFeature denotes MPH D058490
T4 375-394 DiseaseOrPhenotypicFeature denotes ambiguous genitalia D012734
T5 1269-1272 DiseaseOrPhenotypicFeature denotes MPH D058490

LitCoin-MONDO_bioort2019

Id Subject Object Predicate Lexical cue #label
T1 63-87 DiseaseOrPhenotypicFeature denotes male pseudohermaphrodite D058490
T2 206-230 DiseaseOrPhenotypicFeature denotes male pseudohermaphrodite D058490
T3 232-235 DiseaseOrPhenotypicFeature denotes MPH D058490
T4 375-394 DiseaseOrPhenotypicFeature denotes ambiguous genitalia D012734
T5 1269-1272 DiseaseOrPhenotypicFeature denotes MPH D058490

LitCoin-Chemical-MeSH-CHEBI

Id Subject Object Predicate Lexical cue ID:
T1 153-170 ChemicalEntity denotes 5-alpha-reductase D042944
T2 232-235 ChemicalEntity denotes MPH C041626
T3 257-269 ChemicalEntity denotes testosterone D013739|http://purl.obolibrary.org/obo/CHEBI_17347
T5 296-304 ChemicalEntity denotes androgen ChemicalEntity
T6 463-485 ChemicalEntity denotes chorionic gonadotropin http://purl.obolibrary.org/obo/CHEBI_81570
T7 487-490 ChemicalEntity denotes hCG ChemicalEntity
T8 929-936 ChemicalEntity denotes guanine D006147|http://purl.obolibrary.org/obo/CHEBI_16235
T10 946-953 ChemicalEntity denotes adenine D000225|http://purl.obolibrary.org/obo/CHEBI_16708
T12 955-958 ChemicalEntity denotes CAA http://purl.obolibrary.org/obo/CHEBI_27869
T13 971-980 ChemicalEntity denotes glutamine http://purl.obolibrary.org/obo/CHEBI_28300
T14 996-1004 ChemicalEntity denotes arginine http://purl.obolibrary.org/obo/CHEBI_32696|http://purl.obolibrary.org/obo/CHEBI_29016|http://purl.obolibrary.org/obo/CHEBI_16467
T17 1269-1272 ChemicalEntity denotes MPH C041626
T18 1389-1406 ChemicalEntity denotes 5-alpha-reductase D042944

LitCoin-training-merged

Id Subject Object Predicate Lexical cue #label ID:
T18 1389-1406 ChemicalEntity denotes 5-alpha-reductase D042944
T17 1269-1272 ChemicalEntity denotes MPH C041626
T14 996-1004 ChemicalEntity denotes arginine http://purl.obolibrary.org/obo/CHEBI_16467|http://purl.obolibrary.org/obo/CHEBI_29016|http://purl.obolibrary.org/obo/CHEBI_32696
T13 971-980 ChemicalEntity denotes glutamine http://purl.obolibrary.org/obo/CHEBI_28300
T12 955-958 ChemicalEntity denotes CAA http://purl.obolibrary.org/obo/CHEBI_27869
T10 946-953 ChemicalEntity denotes adenine http://purl.obolibrary.org/obo/CHEBI_16708|D000225
T8 929-936 ChemicalEntity denotes guanine http://purl.obolibrary.org/obo/CHEBI_16235|D006147
T7 487-490 ChemicalEntity denotes hCG ChemicalEntity
T6 463-485 ChemicalEntity denotes chorionic gonadotropin http://purl.obolibrary.org/obo/CHEBI_81570
T5 296-304 ChemicalEntity denotes androgen ChemicalEntity
T3 257-269 ChemicalEntity denotes testosterone http://purl.obolibrary.org/obo/CHEBI_17347|D013739
T2 232-235 ChemicalEntity denotes MPH C041626
T1 153-170 ChemicalEntity denotes 5-alpha-reductase D042944
T15 1397-1406 GeneOrGeneProduct denotes reductase
T73205 1391-1396 GeneOrGeneProduct denotes alpha
T90989 1332-1338 GeneOrGeneProduct denotes Testis
T23941 1131-1137 GeneOrGeneProduct denotes SRD5A2
T11 680-686 GeneOrGeneProduct denotes SRD5A2
T77157 642-644 GeneOrGeneProduct denotes AR
T9 588-594 GeneOrGeneProduct denotes SRD5A2
T73084 559-561 GeneOrGeneProduct denotes AR
T44510 375-384 GeneOrGeneProduct denotes ambiguous
T62153 315-317 GeneOrGeneProduct denotes AR
T35411 296-313 GeneOrGeneProduct denotes androgen receptor
T4 184-190 GeneOrGeneProduct denotes SRD5A2
T42925 161-170 GeneOrGeneProduct denotes reductase
T37408 155-160 GeneOrGeneProduct denotes alpha
T91472 39-45 GeneOrGeneProduct denotes SRD5A2
T24787 1269-1272 DiseaseOrPhenotypicFeature denotes MPH D058490
T76053 375-394 DiseaseOrPhenotypicFeature denotes ambiguous genitalia D012734
T6110 232-235 DiseaseOrPhenotypicFeature denotes MPH D058490
T93771 206-230 DiseaseOrPhenotypicFeature denotes male pseudohermaphrodite D058490
T95826 63-87 DiseaseOrPhenotypicFeature denotes male pseudohermaphrodite D058490
T84107 1273-1281 OrganismTaxon denotes patients
T19164 1185-1192 OrganismTaxon denotes patient
T74123 1091-1098 OrganismTaxon denotes patient
T37265 457-462 OrganismTaxon denotes human
T63438 344-351 OrganismTaxon denotes patient
T50326 237-244 OrganismTaxon denotes patient
T76088 88-95 OrganismTaxon denotes patient
T82436 1323-1330 SequenceVariant denotes Tdel219
T42366 1203-1208 SequenceVariant denotes R227Q
T9443 1006-1011 SequenceVariant denotes R227Q

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 375-394 HP:0000062 denotes ambiguous genitalia

tmVarCorpus

Id Subject Object Predicate Lexical cue
T1 1006-1011 ProteinMutation:p|SUB|R|227|Q denotes R227Q
T2 1203-1208 ProteinMutation:p|SUB|R|227|Q denotes R227Q
T3 1323-1330 DNAMutation:|DEL|CODON219|T denotes Tdel219

DisGeNET

Id Subject Object Predicate Lexical cue
T0 153-170 gene:6715 denotes 5-alpha-reductase
T1 232-235 disease:C0555232 denotes MPH
T2 184-190 gene:6716 denotes SRD5A2
T3 232-235 disease:C0555232 denotes MPH
T4 315-317 gene:367 denotes AR
T5 232-235 disease:C0555232 denotes MPH
T6 296-313 gene:367 denotes androgen receptor
T7 232-235 disease:C0555232 denotes MPH
T8 1389-1406 gene:6715 denotes 5-alpha-reductase
T9 1407-1424 disease:C0149676 denotes enzyme deficiency
R1 T0 T1 associated_with 5-alpha-reductase,MPH
R2 T2 T3 associated_with SRD5A2,MPH
R3 T4 T5 associated_with AR,MPH
R4 T6 T7 associated_with androgen receptor,MPH
R5 T8 T9 associated_with 5-alpha-reductase,enzyme deficiency