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PubMed:15191352 JSONTXT

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LitCoin-sentences

Id Subject Object Predicate Lexical cue
T1 0-111 Sentence denotes Severe form of thyroid hormone resistance in a patient with homozygous/hemizygous mutation of T3 receptor gene.
T2 112-226 Sentence denotes Resistance to thyroid hormone syndrome (RTH) is a rare disorder, usually inherited as an autosomal dominant trait.
T3 227-368 Sentence denotes Patients with RTH are usually euthyroid but can occasionally present with signs and symptoms of thyrotoxicosis or rarely with hypothyroidism.
T4 369-481 Sentence denotes Affected individuals are usually heterozygous for mutations in the thyroid hormone receptor beta gene (TR-beta).
T5 482-576 Sentence denotes We present a patient with RTH found to be homo-/hemizygous for a mutation in the TR-beta gene.
T6 577-733 Sentence denotes The single nucleotide substitution I280S (1123T-->G) was present either on both alleles or in a hemizygous form with complete deletion of the second allele.
T7 734-801 Sentence denotes The I280S mutation was recently reported in a heterozygous patient.
T8 802-1058 Sentence denotes The severe phenotype with seriously impaired intellectual development, hyperkinetic behaviour, tachycardia, hearing and visual impairment is probably due to the dominant negative effect of the I280S mutant protein and the absence of any functional TR-beta.

LitCoin-entities-OrganismTaxon-PD

Id Subject Object Predicate Lexical cue db_id
T1 257-266 OrganismTaxon denotes euthyroid NCBItxid:1072051
T2 524-528 OrganismTaxon denotes homo NCBItxid:9605

LitCoin-entities

Id Subject Object Predicate Lexical cue db_id
833 15-41 DiseaseOrPhenotypicFeature denotes thyroid hormone resistance MESH:D018382
834 47-54 OrganismTaxon denotes patient NCBITaxon:9606
835 94-105 GeneOrGeneProduct denotes T3 receptor NCBIGene:7068
836 112-150 DiseaseOrPhenotypicFeature denotes Resistance to thyroid hormone syndrome MESH:D018382
837 152-155 DiseaseOrPhenotypicFeature denotes RTH MESH:D018382
838 227-235 OrganismTaxon denotes Patients NCBITaxon:9606
839 241-244 DiseaseOrPhenotypicFeature denotes RTH MESH:D018382
840 323-337 DiseaseOrPhenotypicFeature denotes thyrotoxicosis MESH:D013971
841 353-367 DiseaseOrPhenotypicFeature denotes hypothyroidism MESH:D007037
842 436-465 GeneOrGeneProduct denotes thyroid hormone receptor beta NCBIGene:7068
843 472-479 GeneOrGeneProduct denotes TR-beta NCBIGene:7068
844 495-502 OrganismTaxon denotes patient NCBITaxon:9606
845 508-511 DiseaseOrPhenotypicFeature denotes RTH MESH:D018382
846 563-570 GeneOrGeneProduct denotes TR-beta NCBIGene:7068
847 612-617 SequenceVariant denotes I280S p|SUB|I|280|S
848 619-628 SequenceVariant denotes 1123T-->G g|SUB|T|1123|G
849 738-743 SequenceVariant denotes I280S p|SUB|I|280|S
850 793-800 OrganismTaxon denotes patient NCBITaxon:9606
851 838-871 DiseaseOrPhenotypicFeature denotes impaired intellectual development MESH:D008607
852 873-885 DiseaseOrPhenotypicFeature denotes hyperkinetic MESH:D006948
853 897-908 DiseaseOrPhenotypicFeature denotes tachycardia MESH:D013610
854 910-939 DiseaseOrPhenotypicFeature denotes hearing and visual impairment MESH:D006311|MESH:D014786
855 995-1000 SequenceVariant denotes I280S p|SUB|I|280|S
856 1050-1057 GeneOrGeneProduct denotes TR-beta NCBIGene:7068

LitCoin_Mondo

Id Subject Object Predicate Lexical cue mondo_id
T1 15-22 DiseaseOrPhenotypicFeature denotes thyroid 0004126
T2 126-133 DiseaseOrPhenotypicFeature denotes thyroid 0004126
T3 162-166 DiseaseOrPhenotypicFeature denotes rare 0021136
T4 185-194 DiseaseOrPhenotypicFeature denotes inherited 0021152
T5 323-337 DiseaseOrPhenotypicFeature denotes thyrotoxicosis 0010138
T6 341-347 DiseaseOrPhenotypicFeature denotes rarely 0021136
T7 353-367 DiseaseOrPhenotypicFeature denotes hypothyroidism 0005420
T8 436-443 DiseaseOrPhenotypicFeature denotes thyroid 0004126
T9 694-702 DiseaseOrPhenotypicFeature denotes complete 0700063

LitCoin-SeqVar

Id Subject Object Predicate Lexical cue
T1 612-617 SequenceVariant denotes I280S
T2 619-624 SequenceVariant denotes 1123T
T3 703-718 SequenceVariant denotes deletion of the
T4 738-743 SequenceVariant denotes I280S
T5 995-1000 SequenceVariant denotes I280S

LitCoin-GeneOrGeneProduct-v0

Id Subject Object Predicate Lexical cue
T1 15-30 GeneOrGeneProduct denotes thyroid hormone
T2 42-46 GeneOrGeneProduct denotes in a
T3 82-90 GeneOrGeneProduct denotes mutation
T4 97-105 GeneOrGeneProduct denotes receptor
T5 126-141 GeneOrGeneProduct denotes thyroid hormone
T6 142-150 GeneOrGeneProduct denotes syndrome
T7 162-166 GeneOrGeneProduct denotes rare
T8 220-225 GeneOrGeneProduct denotes trait
T9 341-347 GeneOrGeneProduct denotes rarely
T10 419-428 GeneOrGeneProduct denotes mutations
T11 436-465 GeneOrGeneProduct denotes thyroid hormone receptor beta
T12 472-479 GeneOrGeneProduct denotes TR-beta
T13 547-555 GeneOrGeneProduct denotes mutation
T14 563-570 GeneOrGeneProduct denotes TR-beta
T15 668-672 GeneOrGeneProduct denotes in a
T16 744-752 GeneOrGeneProduct denotes mutation
T17 775-779 GeneOrGeneProduct denotes in a
T18 873-885 GeneOrGeneProduct denotes hyperkinetic
T19 943-951 GeneOrGeneProduct denotes probably
T20 1001-1007 GeneOrGeneProduct denotes mutant
T21 1008-1015 GeneOrGeneProduct denotes protein
T22 1050-1057 GeneOrGeneProduct denotes TR-beta

LitCoin-GeneOrGeneProduct-v2

Id Subject Object Predicate Lexical cue
T1 15-30 GeneOrGeneProduct denotes thyroid hormone
T2 97-105 GeneOrGeneProduct denotes receptor
T3 126-141 GeneOrGeneProduct denotes thyroid hormone
T4 142-150 GeneOrGeneProduct denotes syndrome
T5 162-166 GeneOrGeneProduct denotes rare
T6 436-465 GeneOrGeneProduct denotes thyroid hormone receptor beta
T7 472-479 GeneOrGeneProduct denotes TR-beta
T8 563-570 GeneOrGeneProduct denotes TR-beta
T9 873-885 GeneOrGeneProduct denotes hyperkinetic
T10 1001-1007 GeneOrGeneProduct denotes mutant
T11 1008-1015 GeneOrGeneProduct denotes protein
T12 1050-1057 GeneOrGeneProduct denotes TR-beta

LitCoin-Disease-MeSH

Id Subject Object Predicate Lexical cue originalLabel
T1 15-41 DiseaseOrPhenotypicFeature denotes thyroid hormone resistance D018382
T2 112-141 DiseaseOrPhenotypicFeature denotes Resistance to thyroid hormone D018382
T3 142-150 DiseaseOrPhenotypicFeature denotes syndrome D013577
T4 323-337 DiseaseOrPhenotypicFeature denotes thyrotoxicosis D013971
T5 353-367 DiseaseOrPhenotypicFeature denotes hypothyroidism D007037
T6 897-908 DiseaseOrPhenotypicFeature denotes tachycardia D013610
T7 922-939 DiseaseOrPhenotypicFeature denotes visual impairment D014786

LitCoin-GeneOrGeneProduct-v3

Id Subject Object Predicate Lexical cue
T1 436-465 GeneOrGeneProduct denotes thyroid hormone receptor beta
T2 472-479 GeneOrGeneProduct denotes TR-beta
T3 563-570 GeneOrGeneProduct denotes TR-beta
T4 873-885 GeneOrGeneProduct denotes hyperkinetic
T5 1050-1057 GeneOrGeneProduct denotes TR-beta

LitCoin_Mondo_095

Id Subject Object Predicate Lexical cue mondo_id
T1 15-41 DiseaseOrPhenotypicFeature denotes thyroid hormone resistance 0001328
T2 142-150 DiseaseOrPhenotypicFeature denotes syndrome 0002254
T3 152-155 DiseaseOrPhenotypicFeature denotes RTH 0001328
T4 241-244 DiseaseOrPhenotypicFeature denotes RTH 0001328
T5 271-274 DiseaseOrPhenotypicFeature denotes can 0012833
T6 323-337 DiseaseOrPhenotypicFeature denotes thyrotoxicosis 0010138
T7 353-367 DiseaseOrPhenotypicFeature denotes hypothyroidism 0005420
T8 436-465 DiseaseOrPhenotypicFeature denotes thyroid hormone receptor beta 0010131
T9 508-511 DiseaseOrPhenotypicFeature denotes RTH 0001328
T10 922-939 DiseaseOrPhenotypicFeature denotes visual impairment 0001941

LitCoin-MeSH-Disease-2

Id Subject Object Predicate Lexical cue ID:
T1 15-41 DiseaseOrPhenotypicFeature denotes thyroid hormone resistance D018382
T2 112-141 DiseaseOrPhenotypicFeature denotes Resistance to thyroid hormone D018382
T3 142-150 DiseaseOrPhenotypicFeature denotes syndrome D013577
T4 152-155 DiseaseOrPhenotypicFeature denotes RTH DISEASE
T5 241-244 DiseaseOrPhenotypicFeature denotes RTH DISEASE
T6 301-319 DiseaseOrPhenotypicFeature denotes signs and symptoms D012816
T7 323-337 DiseaseOrPhenotypicFeature denotes thyrotoxicosis D013971
T8 353-367 DiseaseOrPhenotypicFeature denotes hypothyroidism D007037
T9 508-511 DiseaseOrPhenotypicFeature denotes RTH DISEASE
T10 838-871 DiseaseOrPhenotypicFeature denotes impaired intellectual development DISEASE
T11 873-885 DiseaseOrPhenotypicFeature denotes hyperkinetic DISEASE
T12 897-908 DiseaseOrPhenotypicFeature denotes tachycardia D013610
T13 922-939 DiseaseOrPhenotypicFeature denotes visual impairment D014786

LitCoin-MONDO_bioort2019

Id Subject Object Predicate Lexical cue #label
T1 15-41 DiseaseOrPhenotypicFeature denotes thyroid hormone resistance D018382
T2 112-141 DiseaseOrPhenotypicFeature denotes Resistance to thyroid hormone D018382
T3 152-155 DiseaseOrPhenotypicFeature denotes RTH DISEASE
T4 241-244 DiseaseOrPhenotypicFeature denotes RTH DISEASE
T5 323-337 DiseaseOrPhenotypicFeature denotes thyrotoxicosis D013971
T6 353-367 DiseaseOrPhenotypicFeature denotes hypothyroidism D007037
T7 508-511 DiseaseOrPhenotypicFeature denotes RTH DISEASE
T8 838-871 DiseaseOrPhenotypicFeature denotes impaired intellectual development DISEASE
T9 873-885 DiseaseOrPhenotypicFeature denotes hyperkinetic DISEASE
T10 897-908 DiseaseOrPhenotypicFeature denotes tachycardia D013610
T11 922-939 DiseaseOrPhenotypicFeature denotes visual impairment D014786

LitCoin-NCBITaxon-2

Id Subject Object Predicate Lexical cue
T1 47-54 OrganismTaxon denotes patient
T2 257-266 OrganismTaxon denotes euthyroid
T3 495-502 OrganismTaxon denotes patient
T4 524-528 OrganismTaxon denotes homo
T5 793-800 OrganismTaxon denotes patient

LitCoin-Chemical-MeSH-CHEBI

Id Subject Object Predicate Lexical cue ID:
T1 15-30 ChemicalEntity denotes thyroid hormone D013963
T2 126-141 ChemicalEntity denotes thyroid hormone D013963
T3 436-451 ChemicalEntity denotes thyroid hormone D013963

LitCoin-training-merged

Id Subject Object Predicate Lexical cue #label ID:
T3 436-451 ChemicalEntity denotes thyroid hormone D013963
T2 126-141 ChemicalEntity denotes thyroid hormone D013963
T1 15-30 ChemicalEntity denotes thyroid hormone D013963
T5 1050-1057 GeneOrGeneProduct denotes TR-beta
T4 873-885 GeneOrGeneProduct denotes hyperkinetic
T69706 563-570 GeneOrGeneProduct denotes TR-beta
T46562 472-479 GeneOrGeneProduct denotes TR-beta
T75613 436-465 GeneOrGeneProduct denotes thyroid hormone receptor beta
T11 922-939 DiseaseOrPhenotypicFeature denotes visual impairment D014786
T10 897-908 DiseaseOrPhenotypicFeature denotes tachycardia D013610
T9 873-885 DiseaseOrPhenotypicFeature denotes hyperkinetic DISEASE
T8 838-871 DiseaseOrPhenotypicFeature denotes impaired intellectual development DISEASE
T7 508-511 DiseaseOrPhenotypicFeature denotes RTH DISEASE
T6 353-367 DiseaseOrPhenotypicFeature denotes hypothyroidism D007037
T11494 323-337 DiseaseOrPhenotypicFeature denotes thyrotoxicosis D013971
T78399 241-244 DiseaseOrPhenotypicFeature denotes RTH DISEASE
T87353 152-155 DiseaseOrPhenotypicFeature denotes RTH DISEASE
T6258 112-141 DiseaseOrPhenotypicFeature denotes Resistance to thyroid hormone D018382
T92143 15-41 DiseaseOrPhenotypicFeature denotes thyroid hormone resistance D018382
T56703 793-800 OrganismTaxon denotes patient
T22976 524-528 OrganismTaxon denotes homo
T24192 495-502 OrganismTaxon denotes patient
T10808 257-266 OrganismTaxon denotes euthyroid
T16119 47-54 OrganismTaxon denotes patient
T53934 995-1000 SequenceVariant denotes I280S
T70157 738-743 SequenceVariant denotes I280S
T92991 703-718 SequenceVariant denotes deletion of the
T60786 619-624 SequenceVariant denotes 1123T
T17717 612-617 SequenceVariant denotes I280S

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 353-367 HP:0000821 denotes hypothyroidism
AB2 897-908 HP:0001649 denotes tachycardia
AB3 922-939 HP:0000505 denotes visual impairment

tmVarCorpus

Id Subject Object Predicate Lexical cue
T1 612-617 ProteinMutation:p|SUB|I|280|S denotes I280S
T2 619-628 DNAMutation:g|SUB|T|1123|G denotes 1123T-->G
T3 738-743 ProteinMutation:p|SUB|I|280|S denotes I280S
T4 995-1000 ProteinMutation:p|SUB|I|280|S denotes I280S

DisGeNET

Id Subject Object Predicate Lexical cue
T0 94-96 gene:292 denotes T3
T1 15-41 disease:C2940786 denotes thyroid hormone resistance
R1 T0 T1 associated_with T3,thyroid hormone resistance