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LitCoin-sentences

Id Subject Object Predicate Lexical cue
T1 0-115 Sentence denotes New mutations, hotspots, and founder effects in Brazilian patients with steroid 5alpha-reductase deficiency type 2.
T2 116-293 Sentence denotes Mutations of the steroid 5alpha-reductase type 2 (SRD5A2) gene in 46,XY subjects cause masculinization defects of varying degrees, due to reduced or impaired enzymatic activity.
T3 294-567 Sentence denotes In this study, sequence abnormalities of the SRD5A2 gene were assessed by polymerase chain reaction with specific primers and automated sequencing analysis in DNA samples from 20 patients with suspected steroid 5alpha-reductase type 2 deficiency from 18 Brazilian families.
T4 568-936 Sentence denotes Eleven subjects presented SRD5A2 homozygous single-base mutations (two first cousins and four unrelated patients with G183S, two with R246W, one with del642T, one with G196S, and one with 217_218insC plus the A49T variant in heterozygosis), whereas four were compound heterozygotes (one with Q126R/IVS3+1G>A, one with Q126R/del418T, and two brothers with Q126R/G158R).
T5 937-1012 Sentence denotes Three patients were heterozygous for A207D, G196S, and R266W substitutions.
T6 1013-1145 Sentence denotes The V89L polymorphism was found in heterozygosis in one of them (with A207D) and in one case with an otherwise normal gene sequence.
T7 1146-1256 Sentence denotes The A49T variant was also detected in heterozygosis in the second case without other sequencing abnormalities.
T8 1257-1504 Sentence denotes Four patients harbor yet non-described SRD5A2 gene mutations: a single nucleotide deletion (del642T), a G158R amino acid substitution, a splice junction mutation (IVS3+1G>A), and the insertion of a cytosine (217_218insC) occurring at a CCCC motif.
T9 1505-1605 Sentence denotes This is the first report of a single-nucleotide insertion in the coding sequence of the SRD5A2 gene.
T10 1606-1819 Sentence denotes In addition to these new mutations, this investigation reveals the prevalence of G183S substitution among a subset of African-Brazilian patients and presents evidences of the recurrence of already known mutations.

LitCoin-entities-OrganismTaxon-PD

Id Subject Object Predicate Lexical cue db_id
T1 1225-1241 OrganismTaxon denotes other sequencing NCBItxid:28384

LitCoin-entities

Id Subject Object Predicate Lexical cue db_id
1609 58-66 OrganismTaxon denotes patients NCBITaxon:9606
1610 72-114 DiseaseOrPhenotypicFeature denotes steroid 5alpha-reductase deficiency type 2 MESH:C535830
1611 133-164 GeneOrGeneProduct denotes steroid 5alpha-reductase type 2 NCBIGene:6716
1612 166-172 GeneOrGeneProduct denotes SRD5A2 NCBIGene:6716
1613 339-345 GeneOrGeneProduct denotes SRD5A2 NCBIGene:6716
1614 473-481 OrganismTaxon denotes patients NCBITaxon:9606
1615 497-539 DiseaseOrPhenotypicFeature denotes steroid 5alpha-reductase type 2 deficiency MESH:C535830
1616 594-600 GeneOrGeneProduct denotes SRD5A2 NCBIGene:6716
1617 672-680 OrganismTaxon denotes patients NCBITaxon:9606
1618 686-691 SequenceVariant denotes G183S DBSNP:rs121434247
1619 702-707 SequenceVariant denotes R246W DBSNP:rs121434244
1620 718-725 SequenceVariant denotes del642T c|DEL|642|T
1621 736-741 SequenceVariant denotes G196S DBSNP:rs121434250
1622 756-767 SequenceVariant denotes 217_218insC c|INS|217_218|C
1623 777-781 SequenceVariant denotes A49T DBSNP:rs9282858
1624 860-865 SequenceVariant denotes Q126R DBSNP:rs368386747
1625 866-875 SequenceVariant denotes IVS3+1G>A c|SUB|G|IVS3+1|A
1626 886-891 SequenceVariant denotes Q126R DBSNP:rs368386747
1627 892-899 SequenceVariant denotes del418T c|DEL|418|T
1628 923-928 SequenceVariant denotes Q126R DBSNP:rs368386747
1629 929-934 SequenceVariant denotes G158R p|SUB|G|158|R
1630 943-951 OrganismTaxon denotes patients NCBITaxon:9606
1631 974-979 SequenceVariant denotes A207D DBSNP:rs767564684
1632 981-986 SequenceVariant denotes G196S DBSNP:rs121434250
1633 992-997 SequenceVariant denotes R266W p|SUB|R|266|W
1634 1017-1021 SequenceVariant denotes V89L DBSNP:rs523349
1635 1083-1088 SequenceVariant denotes A207D DBSNP:rs767564684
1636 1150-1154 SequenceVariant denotes A49T DBSNP:rs9282858
1637 1262-1270 OrganismTaxon denotes patients NCBITaxon:9606
1638 1296-1302 GeneOrGeneProduct denotes SRD5A2 NCBIGene:6716
1639 1349-1356 SequenceVariant denotes del642T c|DEL|642|T
1640 1361-1366 SequenceVariant denotes G158R p|SUB|G|158|R
1641 1420-1429 SequenceVariant denotes IVS3+1G>A c|SUB|G|IVS3+1|A
1642 1465-1476 SequenceVariant denotes 217_218insC c|INS|217_218|C
1643 1593-1599 GeneOrGeneProduct denotes SRD5A2 NCBIGene:6716
1644 1687-1692 SequenceVariant denotes G183S DBSNP:rs121434247
1645 1742-1750 OrganismTaxon denotes patients NCBITaxon:9606

LitCoin-SeqVar

Id Subject Object Predicate Lexical cue
T1 686-691 SequenceVariant denotes G183S
T2 702-707 SequenceVariant denotes R246W
T3 718-725 SequenceVariant denotes del642T
T4 736-741 SequenceVariant denotes G196S
T5 760-767 SequenceVariant denotes 218insC
T6 777-781 SequenceVariant denotes A49T
T7 860-865 SequenceVariant denotes Q126R
T8 886-891 SequenceVariant denotes Q126R
T9 892-899 SequenceVariant denotes del418T
T10 923-928 SequenceVariant denotes Q126R
T11 929-934 SequenceVariant denotes G158R
T12 974-979 SequenceVariant denotes A207D
T13 981-986 SequenceVariant denotes G196S
T14 992-997 SequenceVariant denotes R266W
T15 1017-1021 SequenceVariant denotes V89L
T16 1083-1088 SequenceVariant denotes A207D
T17 1150-1154 SequenceVariant denotes A49T
T18 1349-1356 SequenceVariant denotes del642T
T19 1361-1366 SequenceVariant denotes G158R
T20 1469-1476 SequenceVariant denotes 218insC
T21 1687-1692 SequenceVariant denotes G183S

LitCoin-GeneOrGeneProduct-v0

Id Subject Object Predicate Lexical cue
T1 4-13 GeneOrGeneProduct denotes mutations
T2 72-96 GeneOrGeneProduct denotes steroid 5alpha-reductase
T3 108-114 GeneOrGeneProduct denotes type 2
T4 116-125 GeneOrGeneProduct denotes Mutations
T5 133-157 GeneOrGeneProduct denotes steroid 5alpha-reductase
T6 158-164 GeneOrGeneProduct denotes type 2
T7 166-172 GeneOrGeneProduct denotes SRD5A2
T20 624-633 GeneOrGeneProduct denotes mutations
T8 174-184 GeneOrGeneProduct denotes gene in 46
T9 219-226 GeneOrGeneProduct denotes defects
T10 230-237 GeneOrGeneProduct denotes varying
T11 254-261 GeneOrGeneProduct denotes reduced
T12 284-292 GeneOrGeneProduct denotes activity
T13 339-345 GeneOrGeneProduct denotes SRD5A2
T14 368-378 GeneOrGeneProduct denotes polymerase
T15 379-384 GeneOrGeneProduct denotes chain
T16 497-521 GeneOrGeneProduct denotes steroid 5alpha-reductase
T17 522-528 GeneOrGeneProduct denotes type 2
T18 594-600 GeneOrGeneProduct denotes SRD5A2
T19 619-623 GeneOrGeneProduct denotes base
T21 909-917 GeneOrGeneProduct denotes brothers
T22 1072-1076 GeneOrGeneProduct denotes them
T23 1101-1105 GeneOrGeneProduct denotes case
T24 1212-1216 GeneOrGeneProduct denotes case
T25 1225-1230 GeneOrGeneProduct denotes other
T26 1296-1302 GeneOrGeneProduct denotes SRD5A2
T27 1308-1317 GeneOrGeneProduct denotes mutations
T33 1809-1818 GeneOrGeneProduct denotes mutations
T28 1367-1377 GeneOrGeneProduct denotes amino acid
T29 1394-1400 GeneOrGeneProduct denotes splice
T30 1410-1418 GeneOrGeneProduct denotes mutation
T31 1593-1599 GeneOrGeneProduct denotes SRD5A2
T32 1631-1640 GeneOrGeneProduct denotes mutations

LitCoin-GeneOrGeneProduct-v2

Id Subject Object Predicate Lexical cue
T1 72-96 GeneOrGeneProduct denotes steroid 5alpha-reductase
T2 108-114 GeneOrGeneProduct denotes type 2
T3 133-157 GeneOrGeneProduct denotes steroid 5alpha-reductase
T4 158-164 GeneOrGeneProduct denotes type 2
T5 166-172 GeneOrGeneProduct denotes SRD5A2
T6 254-261 GeneOrGeneProduct denotes reduced
T7 339-345 GeneOrGeneProduct denotes SRD5A2
T8 368-378 GeneOrGeneProduct denotes polymerase
T9 379-384 GeneOrGeneProduct denotes chain
T10 497-521 GeneOrGeneProduct denotes steroid 5alpha-reductase
T11 522-528 GeneOrGeneProduct denotes type 2
T12 594-600 GeneOrGeneProduct denotes SRD5A2
T13 1225-1230 GeneOrGeneProduct denotes other
T14 1296-1302 GeneOrGeneProduct denotes SRD5A2
T15 1367-1377 GeneOrGeneProduct denotes amino acid
T16 1593-1599 GeneOrGeneProduct denotes SRD5A2

LitCoin-Disease-MeSH

Id Subject Object Predicate Lexical cue originalLabel
T1 72-107 DiseaseOrPhenotypicFeature denotes steroid 5alpha-reductase deficiency C535830
T2 1781-1791 DiseaseOrPhenotypicFeature denotes recurrence D012008

LitCoin-GeneOrGeneProduct-v3

Id Subject Object Predicate Lexical cue
T1 72-96 GeneOrGeneProduct denotes steroid 5alpha-reductase
T2 133-157 GeneOrGeneProduct denotes steroid 5alpha-reductase
T3 166-172 GeneOrGeneProduct denotes SRD5A2
T4 339-345 GeneOrGeneProduct denotes SRD5A2
T5 497-521 GeneOrGeneProduct denotes steroid 5alpha-reductase
T6 594-600 GeneOrGeneProduct denotes SRD5A2
T7 1296-1302 GeneOrGeneProduct denotes SRD5A2
T8 1593-1599 GeneOrGeneProduct denotes SRD5A2

LitCoin_Mondo_095

Id Subject Object Predicate Lexical cue mondo_id
T1 72-107 DiseaseOrPhenotypicFeature denotes steroid 5alpha-reductase deficiency 0009923

LitCoin-MeSH-Disease-2

Id Subject Object Predicate Lexical cue ID:
T1 72-107 DiseaseOrPhenotypicFeature denotes steroid 5alpha-reductase deficiency C535830
T2 497-539 DiseaseOrPhenotypicFeature denotes steroid 5alpha-reductase type 2 deficiency DISEASE
T3 1781-1791 DiseaseOrPhenotypicFeature denotes recurrence D012008

LitCoin-MONDO_bioort2019

Id Subject Object Predicate Lexical cue #label
T1 72-107 DiseaseOrPhenotypicFeature denotes steroid 5alpha-reductase deficiency C535830
T2 497-539 DiseaseOrPhenotypicFeature denotes steroid 5alpha-reductase type 2 deficiency DISEASE

LitCoin-NCBITaxon-2

Id Subject Object Predicate Lexical cue
T1 58-66 OrganismTaxon denotes patients
T2 473-481 OrganismTaxon denotes patients
T3 672-680 OrganismTaxon denotes patients
T4 943-951 OrganismTaxon denotes patients
T5 1225-1241 OrganismTaxon denotes other sequencing
T6 1262-1270 OrganismTaxon denotes patients
T7 1742-1750 OrganismTaxon denotes patients

LitCoin-Chemical-MeSH-CHEBI

Id Subject Object Predicate Lexical cue ID:
T1 72-107 ChemicalEntity denotes steroid 5alpha-reductase deficiency C535830
T2 133-164 ChemicalEntity denotes steroid 5alpha-reductase type 2 C476567
T3 497-528 ChemicalEntity denotes steroid 5alpha-reductase type 2 C476567
T4 1455-1463 ChemicalEntity denotes cytosine D003596|http://purl.obolibrary.org/obo/CHEBI_16040

LitCoin-training-merged

Id Subject Object Predicate Lexical cue #label ID:
T4 1455-1463 ChemicalEntity denotes cytosine D003596|http://purl.obolibrary.org/obo/CHEBI_16040
T3 497-528 ChemicalEntity denotes steroid 5alpha-reductase type 2 C476567
T2 133-164 ChemicalEntity denotes steroid 5alpha-reductase type 2 C476567
T1 72-107 ChemicalEntity denotes steroid 5alpha-reductase deficiency C535830
T8 1593-1599 GeneOrGeneProduct denotes SRD5A2
T7 1296-1302 GeneOrGeneProduct denotes SRD5A2
T6 594-600 GeneOrGeneProduct denotes SRD5A2
T5 497-521 GeneOrGeneProduct denotes steroid 5alpha-reductase
T68326 339-345 GeneOrGeneProduct denotes SRD5A2
T15187 166-172 GeneOrGeneProduct denotes SRD5A2
T55646 133-157 GeneOrGeneProduct denotes steroid 5alpha-reductase
T60361 72-96 GeneOrGeneProduct denotes steroid 5alpha-reductase
T25732 497-539 DiseaseOrPhenotypicFeature denotes steroid 5alpha-reductase type 2 deficiency DISEASE
T28156 72-107 DiseaseOrPhenotypicFeature denotes steroid 5alpha-reductase deficiency C535830
T7030 1742-1750 OrganismTaxon denotes patients
T10530 1262-1270 OrganismTaxon denotes patients
T39329 1225-1241 OrganismTaxon denotes other sequencing
T8965 943-951 OrganismTaxon denotes patients
T15910 672-680 OrganismTaxon denotes patients
T64961 473-481 OrganismTaxon denotes patients
T88774 58-66 OrganismTaxon denotes patients
T21 1687-1692 SequenceVariant denotes G183S
T20 1469-1476 SequenceVariant denotes 218insC
T19 1361-1366 SequenceVariant denotes G158R
T18 1349-1356 SequenceVariant denotes del642T
T17 1150-1154 SequenceVariant denotes A49T
T16 1083-1088 SequenceVariant denotes A207D
T15 1017-1021 SequenceVariant denotes V89L
T14 992-997 SequenceVariant denotes R266W
T13 981-986 SequenceVariant denotes G196S
T12 974-979 SequenceVariant denotes A207D
T11 929-934 SequenceVariant denotes G158R
T10 923-928 SequenceVariant denotes Q126R
T9 892-899 SequenceVariant denotes del418T
T77689 886-891 SequenceVariant denotes Q126R
T51616 860-865 SequenceVariant denotes Q126R
T32459 777-781 SequenceVariant denotes A49T
T16740 760-767 SequenceVariant denotes 218insC
T99772 736-741 SequenceVariant denotes G196S
T62332 718-725 SequenceVariant denotes del642T
T61281 702-707 SequenceVariant denotes R246W
T95005 686-691 SequenceVariant denotes G183S

tmVarCorpus

Id Subject Object Predicate Lexical cue
T1 686-691 ProteinMutation:p|SUB|G|183|S denotes G183S
T2 702-707 ProteinMutation:p|SUB|R|246|W denotes R246W
T3 718-725 DNAMutation:c|DEL|642|T denotes del642T
T4 736-741 ProteinMutation:p|SUB|G|196|S denotes G196S
T5 756-767 DNAMutation:c|INS|217_218|C denotes 217_218insC
T6 777-781 ProteinMutation:p|SUB|A|49|T denotes A49T
T7 860-865 ProteinMutation:p|SUB|Q|126|R denotes Q126R
T8 866-875 DNAMutation:c|SUB|G|IVS3+1|A denotes IVS3+1G>A
T9 886-891 ProteinMutation:p|SUB|Q|126|R denotes Q126R
T10 892-899 DNAMutation:c|DEL|418|T denotes del418T
T11 923-928 ProteinMutation:p|SUB|Q|126|R denotes Q126R
T12 929-934 ProteinMutation:p|SUB|G|158|R denotes G158R
T13 974-979 ProteinMutation:p|SUB|A|207|D denotes A207D
T14 981-986 ProteinMutation:p|SUB|G|196|S denotes G196S
T15 992-997 ProteinMutation:p|SUB|R|266|W denotes R266W
T16 1017-1021 ProteinMutation:p|SUB|V|89|L denotes V89L
T17 1083-1088 ProteinMutation:p|SUB|A|207|D denotes A207D
T18 1150-1154 ProteinMutation:p|SUB|A|49|T denotes A49T
T19 1349-1356 DNAMutation:c|DEL|642|T denotes del642T
T20 1361-1366 ProteinMutation:p|SUB|G|158|R denotes G158R
T21 1420-1429 DNAMutation:c|SUB|G|IVS3+1|A denotes IVS3+1G>A
T22 1465-1476 DNAMutation:c|INS|217_218|C denotes 217_218insC
T23 1687-1692 ProteinMutation:p|SUB|G|183|S denotes G183S

DisGeNET

Id Subject Object Predicate Lexical cue
T0 166-172 gene:6716 denotes SRD5A2
T1 203-218 disease:C0042755 denotes masculinization
R1 T0 T1 associated_with SRD5A2,masculinization