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PubMed:20583543 JSONTXT

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LitCoin-entities

Id Subject Object Predicate Lexical cue db_id
7597 23-32 DiseaseOrPhenotypicFeature denotes 46,XY DSD MESH:D058490
7598 63-84 SequenceVariant denotes 8 nucleotide deletion c|DEL||8
7599 102-108 GeneOrGeneProduct denotes SRD5A2 NCBIGene:6716
7600 142-151 DiseaseOrPhenotypicFeature denotes 46,XY DSD MESH:D058490
7601 407-424 GeneOrGeneProduct denotes androgen receptor NCBIGene:367
7602 426-428 GeneOrGeneProduct denotes AR NCBIGene:367
7603 434-440 GeneOrGeneProduct denotes SRD5A2 NCBIGene:6716
7604 467-475 OrganismTaxon denotes patients NCBITaxon:9606
7605 481-490 DiseaseOrPhenotypicFeature denotes 46,XY DSD MESH:D058490
7606 610-618 OrganismTaxon denotes patients NCBITaxon:9606
7607 733-739 GeneOrGeneProduct denotes SRD5A2 NCBIGene:6716
7608 754-762 OrganismTaxon denotes patients NCBITaxon:9606
7609 763-770 SequenceVariant denotes p.R246Q DBSNP:rs9332967
7610 868-887 SequenceVariant denotes g.80_87delT CGCGAAG g|DEL|80_87|TCGCGAAG
7611 889-900 SequenceVariant denotes p.A27fsX132 p|FS|A|27||132
7612 906-913 SequenceVariant denotes p.R246Q DBSNP:rs9332967
7613 923-930 OrganismTaxon denotes patient NCBITaxon:9606
7614 936-955 DiseaseOrPhenotypicFeature denotes isolated micropenis MESH:C536649
7615 980-987 SequenceVariant denotes p.G196S DBSNP:rs121434250
7616 1010-1012 GeneOrGeneProduct denotes AR NCBIGene:367
7617 1080-1087 SequenceVariant denotes p.R246Q DBSNP:rs9332967
7618 1115-1123 OrganismTaxon denotes patients NCBITaxon:9606
7619 1129-1135 GeneOrGeneProduct denotes SRD5A2 NCBIGene:6716
7620 1230-1236 GeneOrGeneProduct denotes SRD5A2 NCBIGene:6716
7621 1247-1254 OrganismTaxon denotes patient NCBITaxon:9606
7622 1267-1278 DiseaseOrPhenotypicFeature denotes hypospadias MESH:D007021

LitCoin-sentences

Id Subject Object Predicate Lexical cue
T1 0-114 Sentence denotes Molecular diagnosis of 46,XY DSD and identification of a novel 8 nucleotide deletion in exon 1 of the SRD5A2 gene.
T2 115-186 Sentence denotes Phenotypic presentation of 46,XY DSD depends on the underlying defects.
T3 187-306 Sentence denotes Defect in androgen action on the target tissues or production of active metabolite share common morphological features.
T4 307-383 Sentence denotes Molecular study may help differentiating these abnormalities with precision.
T5 384-504 Sentence denotes Mutational analysis of androgen receptor (AR) and SRD5A2 genes was performed in 29 patients with 46,XY DSD, by PCR-SSCP.
T6 505-590 Sentence denotes The amplicons that showed an aberrant migration in SSCP were subjected to sequencing.
T7 591-745 Sentence denotes Interestingly, six patients from 4 unrelated families (a pair of sibs, uncle/nephew and other two isolated) were identified with mutations in SRD5A2 gene.
T8 746-914 Sentence denotes In five patients p.R246Q missense mutation was detected, of which four were homozygous and one was compound heterozygous: g.80_87delT CGCGAAG (p.A27fsX132) and p.R246Q.
T9 915-1006 Sentence denotes Another patient with isolated micropenis harbored a heterozygous p.G196S missense mutation.
T10 1007-1040 Sentence denotes No AR gene mutation was detected.
T11 1041-1182 Sentence denotes In conclusion, our study suggests that p.R246Q mutation is common amongst patients with SRD5A2 gene defect from the Northern states of India.
T12 1183-1279 Sentence denotes Also, it records a novel deletion in exon 1 of SRD5A2 gene in a patient with severe hypospadias.

LitCoin_Mondo

Id Subject Object Predicate Lexical cue mondo_id
T1 936-955 DiseaseOrPhenotypicFeature denotes isolated micropenis 0019849
T2 1267-1278 DiseaseOrPhenotypicFeature denotes hypospadias 0005345

LitCoin-SeqVar

Id Subject Object Predicate Lexical cue
T1 763-770 SequenceVariant denotes p.R246Q
T2 868-879 SequenceVariant denotes g.80_87delT
T3 889-900 SequenceVariant denotes p.A27fsX132
T4 906-913 SequenceVariant denotes p.R246Q
T5 980-987 SequenceVariant denotes p.G196S
T6 1080-1087 SequenceVariant denotes p.R246Q

LitCoin-GeneOrGeneProduct-v0

Id Subject Object Predicate Lexical cue
T1 57-62 GeneOrGeneProduct denotes novel
T2 102-108 GeneOrGeneProduct denotes SRD5A2
T3 178-185 GeneOrGeneProduct denotes defects
T4 187-196 GeneOrGeneProduct denotes Defect in
T5 238-248 GeneOrGeneProduct denotes production
T6 252-258 GeneOrGeneProduct denotes active
T7 327-331 GeneOrGeneProduct denotes help
T8 384-394 GeneOrGeneProduct denotes Mutational
T9 407-424 GeneOrGeneProduct denotes androgen receptor
T10 426-428 GeneOrGeneProduct denotes AR
T11 434-440 GeneOrGeneProduct denotes SRD5A2
T12 461-466 GeneOrGeneProduct denotes in 29
T13 648-652 GeneOrGeneProduct denotes pair
T14 662-667 GeneOrGeneProduct denotes uncle
T15 679-684 GeneOrGeneProduct denotes other
T16 720-729 GeneOrGeneProduct denotes mutations
T17 733-739 GeneOrGeneProduct denotes SRD5A2
T18 771-779 GeneOrGeneProduct denotes missense
T19 780-788 GeneOrGeneProduct denotes mutation
T20 988-996 GeneOrGeneProduct denotes missense
T21 997-1005 GeneOrGeneProduct denotes mutation
T22 1010-1012 GeneOrGeneProduct denotes AR
T23 1018-1026 GeneOrGeneProduct denotes mutation
T24 1088-1096 GeneOrGeneProduct denotes mutation
T25 1129-1135 GeneOrGeneProduct denotes SRD5A2
T26 1141-1147 GeneOrGeneProduct denotes defect
T27 1202-1207 GeneOrGeneProduct denotes novel
T28 1230-1236 GeneOrGeneProduct denotes SRD5A2
T29 1237-1246 GeneOrGeneProduct denotes gene in a

LitCoin-GeneOrGeneProduct-v2

Id Subject Object Predicate Lexical cue
T1 57-62 GeneOrGeneProduct denotes novel
T2 102-108 GeneOrGeneProduct denotes SRD5A2
T3 407-424 GeneOrGeneProduct denotes androgen receptor
T4 426-428 GeneOrGeneProduct denotes AR
T5 434-440 GeneOrGeneProduct denotes SRD5A2
T6 679-684 GeneOrGeneProduct denotes other
T7 733-739 GeneOrGeneProduct denotes SRD5A2
T8 1010-1012 GeneOrGeneProduct denotes AR
T9 1129-1135 GeneOrGeneProduct denotes SRD5A2
T10 1202-1207 GeneOrGeneProduct denotes novel
T11 1230-1236 GeneOrGeneProduct denotes SRD5A2

LitCoin-Disease-MeSH

Id Subject Object Predicate Lexical cue originalLabel
T1 23-32 DiseaseOrPhenotypicFeature denotes 46,XY DSD D058490
T2 142-151 DiseaseOrPhenotypicFeature denotes 46,XY DSD D058490
T3 197-205 DiseaseOrPhenotypicFeature denotes androgen D014770
T4 407-415 DiseaseOrPhenotypicFeature denotes androgen D014770
T5 481-490 DiseaseOrPhenotypicFeature denotes 46,XY DSD D058490
T6 945-955 DiseaseOrPhenotypicFeature denotes micropenis C536649
T7 1267-1278 DiseaseOrPhenotypicFeature denotes hypospadias D007021

LitCoin-GeneOrGeneProduct-v3

Id Subject Object Predicate Lexical cue
T1 102-108 GeneOrGeneProduct denotes SRD5A2
T2 407-424 GeneOrGeneProduct denotes androgen receptor
T3 426-428 GeneOrGeneProduct denotes AR
T4 434-440 GeneOrGeneProduct denotes SRD5A2
T5 733-739 GeneOrGeneProduct denotes SRD5A2
T6 1010-1012 GeneOrGeneProduct denotes AR
T7 1129-1135 GeneOrGeneProduct denotes SRD5A2
T8 1230-1236 GeneOrGeneProduct denotes SRD5A2

LitCoin_Mondo_095

Id Subject Object Predicate Lexical cue mondo_id
T1 23-32 DiseaseOrPhenotypicFeature denotes 46,XY DSD 0020040
T2 142-151 DiseaseOrPhenotypicFeature denotes 46,XY DSD 0020040
T3 481-490 DiseaseOrPhenotypicFeature denotes 46,XY DSD 0020040
T4 936-955 DiseaseOrPhenotypicFeature denotes isolated micropenis 0019849
T5 1141-1147 DiseaseOrPhenotypicFeature denotes defect 0008568
T6 1267-1278 DiseaseOrPhenotypicFeature denotes hypospadias 0005345

LitCoin-MeSH-Disease-2

Id Subject Object Predicate Lexical cue ID:
T1 23-32 DiseaseOrPhenotypicFeature denotes 46,XY DSD D058490
T2 142-151 DiseaseOrPhenotypicFeature denotes 46,XY DSD D058490
T3 481-490 DiseaseOrPhenotypicFeature denotes 46,XY DSD D058490
T4 945-955 DiseaseOrPhenotypicFeature denotes micropenis C536649
T5 1267-1278 DiseaseOrPhenotypicFeature denotes hypospadias D007021

LitCoin-MONDO_bioort2019

Id Subject Object Predicate Lexical cue #label
T1 23-32 DiseaseOrPhenotypicFeature denotes 46,XY DSD D058490
T2 142-151 DiseaseOrPhenotypicFeature denotes 46,XY DSD D058490
T3 481-490 DiseaseOrPhenotypicFeature denotes 46,XY DSD D058490
T4 945-955 DiseaseOrPhenotypicFeature denotes micropenis C536649
T5 1267-1278 DiseaseOrPhenotypicFeature denotes hypospadias D007021

LitCoin-NCBITaxon-2

Id Subject Object Predicate Lexical cue
T1 467-475 OrganismTaxon denotes patients
T2 610-618 OrganismTaxon denotes patients
T3 754-762 OrganismTaxon denotes patients
T4 923-930 OrganismTaxon denotes patient
T5 1115-1123 OrganismTaxon denotes patients
T6 1247-1254 OrganismTaxon denotes patient

LitCoin-Chemical-MeSH-CHEBI

Id Subject Object Predicate Lexical cue ID:
T1 197-205 ChemicalEntity denotes androgen ChemicalEntity
T2 407-415 ChemicalEntity denotes androgen ChemicalEntity

LitCoin-training-merged

Id Subject Object Predicate Lexical cue #label ID:
T2 407-415 ChemicalEntity denotes androgen ChemicalEntity
T1 197-205 ChemicalEntity denotes androgen ChemicalEntity
T8 1230-1236 GeneOrGeneProduct denotes SRD5A2
T7 1129-1135 GeneOrGeneProduct denotes SRD5A2
T6 1010-1012 GeneOrGeneProduct denotes AR
T5 733-739 GeneOrGeneProduct denotes SRD5A2
T4 434-440 GeneOrGeneProduct denotes SRD5A2
T3 426-428 GeneOrGeneProduct denotes AR
T87716 407-424 GeneOrGeneProduct denotes androgen receptor
T11440 102-108 GeneOrGeneProduct denotes SRD5A2
T83503 1267-1278 DiseaseOrPhenotypicFeature denotes hypospadias D007021
T60281 945-955 DiseaseOrPhenotypicFeature denotes micropenis C536649
T44605 481-490 DiseaseOrPhenotypicFeature denotes 46,XY DSD D058490
T9519 142-151 DiseaseOrPhenotypicFeature denotes 46,XY DSD D058490
T11411 23-32 DiseaseOrPhenotypicFeature denotes 46,XY DSD D058490
T98244 1247-1254 OrganismTaxon denotes patient
T53074 1115-1123 OrganismTaxon denotes patients
T51228 923-930 OrganismTaxon denotes patient
T29327 754-762 OrganismTaxon denotes patients
T15348 610-618 OrganismTaxon denotes patients
T4772 467-475 OrganismTaxon denotes patients
T96011 1080-1087 SequenceVariant denotes p.R246Q
T55478 980-987 SequenceVariant denotes p.G196S
T86302 906-913 SequenceVariant denotes p.R246Q
T44447 889-900 SequenceVariant denotes p.A27fsX132
T67845 868-879 SequenceVariant denotes g.80_87delT
T10488 763-770 SequenceVariant denotes p.R246Q

DisGeNET

Id Subject Object Predicate Lexical cue
T0 407-424 gene:367 denotes androgen receptor
T1 481-490 disease:C2751824 denotes 46,XY DSD
T2 426-428 gene:367 denotes AR
T3 481-490 disease:C2751824 denotes 46,XY DSD
T4 434-440 gene:6716 denotes SRD5A2
T5 481-490 disease:C2751824 denotes 46,XY DSD
R1 T0 T1 associated_with androgen receptor,"46,XY DSD"
R2 T2 T3 associated_with AR,"46,XY DSD"
R3 T4 T5 associated_with SRD5A2,"46,XY DSD"

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 945-955 HP_0000054 denotes micropenis
T2 1267-1278 HP_0000047 denotes hypospadias

Allie

Id Subject Object Predicate Lexical cue
SS1_20583543_4_0 407-424 expanded denotes androgen receptor
SS2_20583543_4_0 426-428 abbr denotes AR
AE1_20583543_4_0 SS1_20583543_4_0 SS2_20583543_4_0 abbreviatedTo androgen receptor,AR

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
20583543-8#94#96#gene367 1010-1012 gene367 denotes AR
20583543-8#30#40#diseaseC0266435 945-955 diseaseC0266435 denotes micropenis
94#96#gene36730#40#diseaseC0266435 20583543-8#94#96#gene367 20583543-8#30#40#diseaseC0266435 associated_with AR,micropenis

tmVarCorpus

Id Subject Object Predicate Lexical cue
T1 763-770 ProteinMutation:p|SUB|R|246|Q denotes p.R246Q
T2 868-887 DNAMutation:g|DEL|80_87|TCGCGAAG denotes g.80_87delT CGCGAAG
T3 889-900 ProteinMutation:p|FS|A|27||132 denotes p.A27fsX132
T4 906-913 ProteinMutation:p|SUB|R|246|Q denotes p.R246Q
T5 980-987 ProteinMutation:p|SUB|G|196|S denotes p.G196S
T6 1080-1087 ProteinMutation:p|SUB|R|246|Q denotes p.R246Q