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LitCoin-sentences

Id Subject Object Predicate Lexical cue
T1 0-144 Sentence denotes Expanding clinical spectrum of non-autoimmune hyperthyroidism due to an activating germline mutation, p.M453T, in the thyrotropin receptor gene.
T2 145-155 Sentence denotes OBJECTIVE:
T3 156-339 Sentence denotes To describe clinical and genetic features of a Thai family with non-autoimmune hyperthyroidism (NAH) caused by an activating germline mutation in the thyrotropin receptor (TSHR) gene.
T4 340-349 Sentence denotes PATIENTS:
T5 350-443 Sentence denotes Three affected individuals from the same family (a father and his two children) were studied.
T6 444-501 Sentence denotes Clinical and imaging findings were reviewed and compared.
T7 502-519 Sentence denotes GENETIC ANALYSIS:
T8 520-722 Sentence denotes Genomic DNA was extracted from peripheral blood leukocytes and mutation analysis of the entire coding sequence of the TSHR gene was performed in both children and their parents by direct DNA sequencing.
T9 723-731 Sentence denotes RESULTS:
T10 732-958 Sentence denotes A heterozygous germline T to C transition in exon 10 of the TSHR gene (c.1358T-->C) resulting in the substitution of methionine (ATG) by threonine (ACG) at codon 453 (p.M453T) was identified in the father and his two children.
T11 959-1033 Sentence denotes They presented with different clinical severity and variable age of onset.
T12 1034-1236 Sentence denotes In addition to hyperthyroidism, ventriculomegaly and bilateral shortening of the fifth metacarpal bones and the middle phalanges of the fifth fingers were consistently found in all affected individuals.
T13 1237-1249 Sentence denotes CONCLUSIONS:
T14 1250-1456 Sentence denotes Ventriculomegaly and bilateral shortening of the fifth metacarpal bones and the middle phalanges of the fifth fingers might be characteristic features of NAH because of an activating TSHR germline mutation.
T15 1457-1616 Sentence denotes In addition, the shortening of the middle phalanges of the fifth fingers has never been previously described, expanding the phenotypic spectrum of the disease.

LitCoin-entities-OrganismTaxon-PD

Id Subject Object Predicate Lexical cue db_id
T1 888-893 OrganismTaxon denotes codon NCBItxid:79338

LitCoin-entities

Id Subject Object Predicate Lexical cue db_id
5436 31-61 DiseaseOrPhenotypicFeature denotes non-autoimmune hyperthyroidism MESH:C563786
5437 102-109 SequenceVariant denotes p.M453T DBSNP:rs121908864
5438 118-138 GeneOrGeneProduct denotes thyrotropin receptor NCBIGene:7253
5439 220-250 DiseaseOrPhenotypicFeature denotes non-autoimmune hyperthyroidism MESH:C563786
5440 252-255 DiseaseOrPhenotypicFeature denotes NAH MESH:C563786
5441 306-326 GeneOrGeneProduct denotes thyrotropin receptor NCBIGene:7253
5442 328-332 GeneOrGeneProduct denotes TSHR NCBIGene:7253
5443 340-348 OrganismTaxon denotes PATIENTS NCBITaxon:9606
5444 638-642 GeneOrGeneProduct denotes TSHR NCBIGene:7253
5445 756-762 SequenceVariant denotes T to C DBSNP:rs121908864
5446 792-796 GeneOrGeneProduct denotes TSHR NCBIGene:7253
5447 803-814 SequenceVariant denotes c.1358T-->C DBSNP:rs121908864
5448 849-897 SequenceVariant denotes methionine (ATG) by threonine (ACG) at codon 453 DBSNP:rs121908864
5449 899-906 SequenceVariant denotes p.M453T DBSNP:rs121908864
5450 1049-1064 DiseaseOrPhenotypicFeature denotes hyperthyroidism MESH:D006980
5451 1066-1082 DiseaseOrPhenotypicFeature denotes ventriculomegaly MESH:D006849
5452 1250-1266 DiseaseOrPhenotypicFeature denotes Ventriculomegaly MESH:D006849
5453 1404-1407 DiseaseOrPhenotypicFeature denotes NAH MESH:C563786
5454 1433-1437 GeneOrGeneProduct denotes TSHR NCBIGene:7253

LitCoin_Mondo

Id Subject Object Predicate Lexical cue mondo_id
T1 46-61 DiseaseOrPhenotypicFeature denotes hyperthyroidism 0004425
T2 235-250 DiseaseOrPhenotypicFeature denotes hyperthyroidism 0004425
T3 1049-1064 DiseaseOrPhenotypicFeature denotes hyperthyroidism 0004425

LitCoin-SeqVar

Id Subject Object Predicate Lexical cue
T1 102-109 SequenceVariant denotes p.M453T
T2 805-810 SequenceVariant denotes 1358T
T3 899-906 SequenceVariant denotes p.M453T

LitCoin-GeneOrGeneProduct-v2

Id Subject Object Predicate Lexical cue
T1 118-138 GeneOrGeneProduct denotes thyrotropin receptor
T2 306-326 GeneOrGeneProduct denotes thyrotropin receptor
T3 328-332 GeneOrGeneProduct denotes TSHR
T4 638-642 GeneOrGeneProduct denotes TSHR
T5 792-796 GeneOrGeneProduct denotes TSHR
T6 1433-1437 GeneOrGeneProduct denotes TSHR

LitCoin-GeneOrGeneProduct-v0

Id Subject Object Predicate Lexical cue
T1 0-9 GeneOrGeneProduct denotes Expanding
T2 72-82 GeneOrGeneProduct denotes activating
T3 92-100 GeneOrGeneProduct denotes mutation
T4 118-138 GeneOrGeneProduct denotes thyrotropin receptor
T5 270-280 GeneOrGeneProduct denotes activating
T6 290-298 GeneOrGeneProduct denotes mutation
T7 306-326 GeneOrGeneProduct denotes thyrotropin receptor
T8 328-332 GeneOrGeneProduct denotes TSHR
T9 465-473 GeneOrGeneProduct denotes findings
T10 583-591 GeneOrGeneProduct denotes mutation
T11 608-614 GeneOrGeneProduct denotes entire
T12 638-642 GeneOrGeneProduct denotes TSHR
T13 792-796 GeneOrGeneProduct denotes TSHR
T14 1132-1137 GeneOrGeneProduct denotes bones
T15 1211-1214 GeneOrGeneProduct denotes all
T16 1316-1321 GeneOrGeneProduct denotes bones
T17 1422-1432 GeneOrGeneProduct denotes activating
T18 1433-1437 GeneOrGeneProduct denotes TSHR
T19 1447-1455 GeneOrGeneProduct denotes mutation
T20 1567-1576 GeneOrGeneProduct denotes expanding

LitCoin-Disease-MeSH

Id Subject Object Predicate Lexical cue originalLabel
T1 31-61 DiseaseOrPhenotypicFeature denotes non-autoimmune hyperthyroidism C563786
T2 220-250 DiseaseOrPhenotypicFeature denotes non-autoimmune hyperthyroidism C563786
T3 252-255 DiseaseOrPhenotypicFeature denotes NAH C563786
T4 1049-1064 DiseaseOrPhenotypicFeature denotes hyperthyroidism D006980
T5 1404-1407 DiseaseOrPhenotypicFeature denotes NAH C563786
T6 1608-1615 DiseaseOrPhenotypicFeature denotes disease D004194

LitCoin-GeneOrGeneProduct-v3

Id Subject Object Predicate Lexical cue
T1 118-138 GeneOrGeneProduct denotes thyrotropin receptor
T2 306-326 GeneOrGeneProduct denotes thyrotropin receptor
T3 328-332 GeneOrGeneProduct denotes TSHR
T4 638-642 GeneOrGeneProduct denotes TSHR
T5 792-796 GeneOrGeneProduct denotes TSHR
T6 1433-1437 GeneOrGeneProduct denotes TSHR

LitCoin_Mondo_095

Id Subject Object Predicate Lexical cue mondo_id
T1 31-61 DiseaseOrPhenotypicFeature denotes non-autoimmune hyperthyroidism 0012203
T2 220-250 DiseaseOrPhenotypicFeature denotes non-autoimmune hyperthyroidism 0012203
T3 252-255 DiseaseOrPhenotypicFeature denotes NAH 0012203
T4 1049-1064 DiseaseOrPhenotypicFeature denotes hyperthyroidism 0004425
T5 1066-1082 DiseaseOrPhenotypicFeature denotes ventriculomegaly 0009360
T6 1250-1266 DiseaseOrPhenotypicFeature denotes Ventriculomegaly 0009360
T7 1404-1407 DiseaseOrPhenotypicFeature denotes NAH 0012203

LitCoin-MeSH-Disease-2

Id Subject Object Predicate Lexical cue ID:
T1 31-61 DiseaseOrPhenotypicFeature denotes non-autoimmune hyperthyroidism C563786
T2 220-250 DiseaseOrPhenotypicFeature denotes non-autoimmune hyperthyroidism C563786
T3 252-255 DiseaseOrPhenotypicFeature denotes NAH C563786
T4 1049-1064 DiseaseOrPhenotypicFeature denotes hyperthyroidism D006980
T5 1066-1082 DiseaseOrPhenotypicFeature denotes ventriculomegaly DISEASE
T6 1250-1266 DiseaseOrPhenotypicFeature denotes Ventriculomegaly DISEASE
T7 1404-1407 DiseaseOrPhenotypicFeature denotes NAH C563786
T8 1608-1615 DiseaseOrPhenotypicFeature denotes disease D004194

LitCoin-MONDO_bioort2019

Id Subject Object Predicate Lexical cue #label
T1 31-61 DiseaseOrPhenotypicFeature denotes non-autoimmune hyperthyroidism C563786
T2 220-250 DiseaseOrPhenotypicFeature denotes non-autoimmune hyperthyroidism C563786
T3 252-255 DiseaseOrPhenotypicFeature denotes NAH C563786
T4 1049-1064 DiseaseOrPhenotypicFeature denotes hyperthyroidism D006980
T5 1066-1082 DiseaseOrPhenotypicFeature denotes ventriculomegaly DISEASE
T6 1250-1266 DiseaseOrPhenotypicFeature denotes Ventriculomegaly DISEASE
T7 1404-1407 DiseaseOrPhenotypicFeature denotes NAH C563786

LitCoin-Chemical-MeSH-CHEBI

Id Subject Object Predicate Lexical cue ID:
T1 849-859 ChemicalEntity denotes methionine http://purl.obolibrary.org/obo/CHEBI_64558|http://purl.obolibrary.org/obo/CHEBI_16811
T3 869-878 ChemicalEntity denotes threonine http://purl.obolibrary.org/obo/CHEBI_26986
T4 880-883 ChemicalEntity denotes ACG http://purl.obolibrary.org/obo/CHEBI_73345

LitCoin-training-merged

Id Subject Object Predicate Lexical cue #label ID:
T4 880-883 ChemicalEntity denotes ACG http://purl.obolibrary.org/obo/CHEBI_73345
T3 869-878 ChemicalEntity denotes threonine http://purl.obolibrary.org/obo/CHEBI_26986
T1 849-859 ChemicalEntity denotes methionine http://purl.obolibrary.org/obo/CHEBI_16811|http://purl.obolibrary.org/obo/CHEBI_64558
T6 1433-1437 GeneOrGeneProduct denotes TSHR
T5 792-796 GeneOrGeneProduct denotes TSHR
T98308 638-642 GeneOrGeneProduct denotes TSHR
T23217 328-332 GeneOrGeneProduct denotes TSHR
T2 306-326 GeneOrGeneProduct denotes thyrotropin receptor
T74312 118-138 GeneOrGeneProduct denotes thyrotropin receptor
T7 1404-1407 DiseaseOrPhenotypicFeature denotes NAH C563786
T9584 1250-1266 DiseaseOrPhenotypicFeature denotes Ventriculomegaly DISEASE
T35094 1066-1082 DiseaseOrPhenotypicFeature denotes ventriculomegaly DISEASE
T39936 1049-1064 DiseaseOrPhenotypicFeature denotes hyperthyroidism D006980
T73012 252-255 DiseaseOrPhenotypicFeature denotes NAH C563786
T3329 220-250 DiseaseOrPhenotypicFeature denotes non-autoimmune hyperthyroidism C563786
T2566 31-61 DiseaseOrPhenotypicFeature denotes non-autoimmune hyperthyroidism C563786
T62940 899-906 SequenceVariant denotes p.M453T
T14572 805-810 SequenceVariant denotes 1358T
T50756 102-109 SequenceVariant denotes p.M453T

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-144 Sentence denotes Expanding clinical spectrum of non-autoimmune hyperthyroidism due to an activating germline mutation, p.M453T, in the thyrotropin receptor gene.
TextSentencer_T2 145-155 Sentence denotes OBJECTIVE:
TextSentencer_T3 156-339 Sentence denotes To describe clinical and genetic features of a Thai family with non-autoimmune hyperthyroidism (NAH) caused by an activating germline mutation in the thyrotropin receptor (TSHR) gene.
TextSentencer_T4 340-349 Sentence denotes PATIENTS:
TextSentencer_T5 350-443 Sentence denotes Three affected individuals from the same family (a father and his two children) were studied.
TextSentencer_T6 444-501 Sentence denotes Clinical and imaging findings were reviewed and compared.
TextSentencer_T7 502-519 Sentence denotes GENETIC ANALYSIS:
TextSentencer_T8 520-722 Sentence denotes Genomic DNA was extracted from peripheral blood leukocytes and mutation analysis of the entire coding sequence of the TSHR gene was performed in both children and their parents by direct DNA sequencing.
TextSentencer_T9 723-731 Sentence denotes RESULTS:
TextSentencer_T10 732-958 Sentence denotes A heterozygous germline T to C transition in exon 10 of the TSHR gene (c.1358T-->C) resulting in the substitution of methionine (ATG) by threonine (ACG) at codon 453 (p.M453T) was identified in the father and his two children.
TextSentencer_T11 959-1033 Sentence denotes They presented with different clinical severity and variable age of onset.
TextSentencer_T12 1034-1236 Sentence denotes In addition to hyperthyroidism, ventriculomegaly and bilateral shortening of the fifth metacarpal bones and the middle phalanges of the fifth fingers were consistently found in all affected individuals.
TextSentencer_T13 1237-1249 Sentence denotes CONCLUSIONS:
TextSentencer_T14 1250-1456 Sentence denotes Ventriculomegaly and bilateral shortening of the fifth metacarpal bones and the middle phalanges of the fifth fingers might be characteristic features of NAH because of an activating TSHR germline mutation.
TextSentencer_T15 1457-1616 Sentence denotes In addition, the shortening of the middle phalanges of the fifth fingers has never been previously described, expanding the phenotypic spectrum of the disease.
T1 0-144 Sentence denotes Expanding clinical spectrum of non-autoimmune hyperthyroidism due to an activating germline mutation, p.M453T, in the thyrotropin receptor gene.
T2 145-155 Sentence denotes OBJECTIVE:
T3 156-339 Sentence denotes To describe clinical and genetic features of a Thai family with non-autoimmune hyperthyroidism (NAH) caused by an activating germline mutation in the thyrotropin receptor (TSHR) gene.
T4 340-349 Sentence denotes PATIENTS:
T5 350-443 Sentence denotes Three affected individuals from the same family (a father and his two children) were studied.
T6 444-501 Sentence denotes Clinical and imaging findings were reviewed and compared.
T7 502-519 Sentence denotes GENETIC ANALYSIS:
T8 520-722 Sentence denotes Genomic DNA was extracted from peripheral blood leukocytes and mutation analysis of the entire coding sequence of the TSHR gene was performed in both children and their parents by direct DNA sequencing.
T9 723-731 Sentence denotes RESULTS:
T10 732-958 Sentence denotes A heterozygous germline T to C transition in exon 10 of the TSHR gene (c.1358T-->C) resulting in the substitution of methionine (ATG) by threonine (ACG) at codon 453 (p.M453T) was identified in the father and his two children.
T11 959-1033 Sentence denotes They presented with different clinical severity and variable age of onset.
T12 1034-1236 Sentence denotes In addition to hyperthyroidism, ventriculomegaly and bilateral shortening of the fifth metacarpal bones and the middle phalanges of the fifth fingers were consistently found in all affected individuals.
T13 1237-1249 Sentence denotes CONCLUSIONS:
T14 1250-1456 Sentence denotes Ventriculomegaly and bilateral shortening of the fifth metacarpal bones and the middle phalanges of the fifth fingers might be characteristic features of NAH because of an activating TSHR germline mutation.
T15 1457-1616 Sentence denotes In addition, the shortening of the middle phalanges of the fifth fingers has never been previously described, expanding the phenotypic spectrum of the disease.

PubCasesHPO

Id Subject Object Predicate Lexical cue
TI1 46-61 HP:0000836 denotes hyperthyroidism
AB1 235-250 HP:0000836 denotes hyperthyroidism
AB2 1049-1064 HP:0000836 denotes hyperthyroidism
AB3 1066-1082 HP:0002119 denotes ventriculomegaly
AB4 1250-1266 HP:0002119 denotes Ventriculomegaly

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 252-255 ORDO:439196 denotes NAH
AB2 1404-1407 ORDO:439196 denotes NAH

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 562-567 http://purl.obolibrary.org/obo/UBERON_0000178 denotes blood
PD-UBERON-AE-B_T2 1121-1137 http://purl.obolibrary.org/obo/UBERON_0002374 denotes metacarpal bones
PD-UBERON-AE-B_T3 1305-1321 http://purl.obolibrary.org/obo/UBERON_0002374 denotes metacarpal bones

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 562-567 http://purl.obolibrary.org/obo/UBERON_0000178 denotes blood
PD-UBERON-AE-B_T2 1121-1137 http://purl.obolibrary.org/obo/UBERON_0002374 denotes metacarpal bones
PD-UBERON-AE-B_T3 1305-1321 http://purl.obolibrary.org/obo/UBERON_0002374 denotes metacarpal bones

tmVarCorpus

Id Subject Object Predicate Lexical cue
T1 102-109 ProteinMutation:p|SUB|M|453|T denotes p.M453T
T2 803-814 DNAMutation:c|SUB|T|1358|C denotes c.1358T-->C
T3 899-906 ProteinMutation:p|SUB|M|453|T denotes p.M453T