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PubMed:20606392 JSONTXT

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LitCoin-entities

Id Subject Object Predicate Lexical cue db_id
7650 9-34 DiseaseOrPhenotypicFeature denotes GH insensitivity syndrome MESH:D046150
7651 46-85 DiseaseOrPhenotypicFeature denotes insulin-like growth factor-I deficiency MESH:C563867
7652 140-151 GeneOrGeneProduct denotes GH receptor NCBIGene:2690
7653 244-260 DiseaseOrPhenotypicFeature denotes GH insensitivity MESH:D046150
7654 265-279 DiseaseOrPhenotypicFeature denotes IGF deficiency MESH:C563867
7655 315-326 GeneOrGeneProduct denotes GH receptor NCBIGene:2690
7656 328-331 GeneOrGeneProduct denotes GHR NCBIGene:2690
7657 377-391 DiseaseOrPhenotypicFeature denotes growth failure MESH:D006130
7658 427-445 GeneOrGeneProduct denotes GH-binding protein NCBIGene:2690
7659 447-451 GeneOrGeneProduct denotes GHBP NCBIGene:2690
7660 479-495 DiseaseOrPhenotypicFeature denotes GH insensitivity MESH:D046150
7661 632-634 GeneOrGeneProduct denotes GH NCBIGene:2688
7662 672-677 GeneOrGeneProduct denotes IGF-I NCBIGene:3479
7663 682-689 GeneOrGeneProduct denotes IGFBP-3 NCBIGene:3486
7664 716-720 GeneOrGeneProduct denotes GHBP NCBIGene:2690
7665 800-803 GeneOrGeneProduct denotes GHR NCBIGene:2690
7666 837-842 SequenceVariant denotes R211H p|SUB|R|211|H
7667 903-910 SequenceVariant denotes 899dupC c|DUP|899|C|
7668 1017-1022 GeneOrGeneProduct denotes IGF-I NCBIGene:3479
7669 1120-1123 GeneOrGeneProduct denotes GHR NCBIGene:2690
7670 1138-1154 DiseaseOrPhenotypicFeature denotes GH insensitivity MESH:D046150
7671 1159-1173 DiseaseOrPhenotypicFeature denotes IGF deficiency MESH:C563867
7672 1214-1218 GeneOrGeneProduct denotes GHBP NCBIGene:2690
7673 1273-1275 GeneOrGeneProduct denotes GH NCBIGene:2688
7674 1351-1354 GeneOrGeneProduct denotes GHR NCBIGene:2690
7675 1393-1397 GeneOrGeneProduct denotes GHBP NCBIGene:2690

LitCoin-sentences

Id Subject Object Predicate Lexical cue
T1 0-226 Sentence denotes Atypical GH insensitivity syndrome and severe insulin-like growth factor-I deficiency resulting from compound heterozygous mutations of the GH receptor, including a novel frameshift mutation affecting the intracellular domain.
T2 227-333 Sentence denotes BACKGROUND/AIMS: GH insensitivity and IGF deficiency may result from aberrations of the GH receptor (GHR).
T3 334-496 Sentence denotes We describe a 4-year-old child with modest growth failure and normal serum concentrations of GH-binding protein (GHBP), but clinical evidence of GH insensitivity.
T4 497-504 Sentence denotes METHOD:
T5 505-574 Sentence denotes Serum and DNA samples from the proband and his parents were analyzed.
T6 575-583 Sentence denotes RESULTS:
T7 584-736 Sentence denotes The child had a height of -4 SD, elevated serum GH concentrations, abnormally low serum IGF-I and IGFBP-3 concentrations and normal GHBP concentrations.
T8 737-977 Sentence denotes DNA analysis revealed compound heterozygosity for mutations of GHR, including a previously reported R211H mutation and a novel duplication of a nucleotide in exon 9 (899dupC), the latter resulting in a frameshift and a premature stop codon.
T9 978-1055 Sentence denotes Treatment with recombinant DNA-derived IGF-I resulted in growth acceleration.
T10 1056-1067 Sentence denotes CONCLUSION:
T11 1068-1219 Sentence denotes Mutations affecting the intracellular domain of the GHR can result in GH insensitivity and IGF deficiency, despite normal serum concentrations of GHBP.
T12 1220-1413 Sentence denotes The presence of clinical and biochemical evidence of GH resistance is sufficient to consider the possibility of aberrations of the GHR, even in the presence of normal serum GHBP concentrations.

LitCoin-entities-OrganismTaxon-PD

Id Subject Object Predicate Lexical cue db_id
T1 971-976 OrganismTaxon denotes codon NCBItxid:79338

LitCoin-SeqVar

Id Subject Object Predicate Lexical cue
T1 837-842 SequenceVariant denotes R211H
T2 903-910 SequenceVariant denotes 899dupC

LitCoin-GeneOrGeneProduct-v0

Id Subject Object Predicate Lexical cue
T1 0-8 GeneOrGeneProduct denotes Atypical
T2 9-11 GeneOrGeneProduct denotes GH
T3 12-25 GeneOrGeneProduct denotes insensitivity
T4 26-34 GeneOrGeneProduct denotes syndrome
T5 46-74 GeneOrGeneProduct denotes insulin-like growth factor-I
T6 123-132 GeneOrGeneProduct denotes mutations
T7 140-151 GeneOrGeneProduct denotes GH receptor
T8 165-170 GeneOrGeneProduct denotes novel
T9 182-190 GeneOrGeneProduct denotes mutation
T10 244-246 GeneOrGeneProduct denotes GH
T11 247-260 GeneOrGeneProduct denotes insensitivity
T12 315-326 GeneOrGeneProduct denotes GH receptor
T13 328-331 GeneOrGeneProduct denotes GHR
T14 350-354 GeneOrGeneProduct denotes year
T15 377-383 GeneOrGeneProduct denotes growth
T16 427-429 GeneOrGeneProduct denotes GH
T17 430-445 GeneOrGeneProduct denotes binding protein
T18 447-451 GeneOrGeneProduct denotes GHBP
T19 479-481 GeneOrGeneProduct denotes GH
T20 482-495 GeneOrGeneProduct denotes insensitivity
T21 497-503 GeneOrGeneProduct denotes METHOD
T22 594-599 GeneOrGeneProduct denotes had a
T23 600-606 GeneOrGeneProduct denotes height
T24 632-634 GeneOrGeneProduct denotes GH
T25 672-677 GeneOrGeneProduct denotes IGF-I
T26 682-689 GeneOrGeneProduct denotes IGFBP-3
T27 716-720 GeneOrGeneProduct denotes GHBP
T28 787-796 GeneOrGeneProduct denotes mutations
T29 800-803 GeneOrGeneProduct denotes GHR
T30 843-851 GeneOrGeneProduct denotes mutation
T31 858-863 GeneOrGeneProduct denotes novel
T32 864-875 GeneOrGeneProduct denotes duplication
T33 934-938 GeneOrGeneProduct denotes in a
T34 966-970 GeneOrGeneProduct denotes stop
T35 993-1004 GeneOrGeneProduct denotes recombinant
T36 1017-1022 GeneOrGeneProduct denotes IGF-I
T37 1035-1041 GeneOrGeneProduct denotes growth
T38 1068-1077 GeneOrGeneProduct denotes Mutations
T39 1120-1123 GeneOrGeneProduct denotes GHR
T40 1138-1140 GeneOrGeneProduct denotes GH
T41 1141-1154 GeneOrGeneProduct denotes insensitivity
T42 1214-1218 GeneOrGeneProduct denotes GHBP
T43 1273-1275 GeneOrGeneProduct denotes GH
T44 1351-1354 GeneOrGeneProduct denotes GHR
T45 1356-1360 GeneOrGeneProduct denotes even
T46 1393-1397 GeneOrGeneProduct denotes GHBP

LitCoin-GeneOrGeneProduct-v2

Id Subject Object Predicate Lexical cue
T1 0-8 GeneOrGeneProduct denotes Atypical
T2 26-34 GeneOrGeneProduct denotes syndrome
T3 46-74 GeneOrGeneProduct denotes insulin-like growth factor-I
T4 140-151 GeneOrGeneProduct denotes GH receptor
T5 165-170 GeneOrGeneProduct denotes novel
T6 315-326 GeneOrGeneProduct denotes GH receptor
T7 328-331 GeneOrGeneProduct denotes GHR
T8 377-383 GeneOrGeneProduct denotes growth
T9 430-445 GeneOrGeneProduct denotes binding protein
T10 447-451 GeneOrGeneProduct denotes GHBP
T11 600-606 GeneOrGeneProduct denotes height
T12 672-677 GeneOrGeneProduct denotes IGF-I
T13 682-689 GeneOrGeneProduct denotes IGFBP-3
T14 716-720 GeneOrGeneProduct denotes GHBP
T15 800-803 GeneOrGeneProduct denotes GHR
T16 858-863 GeneOrGeneProduct denotes novel
T17 966-970 GeneOrGeneProduct denotes stop
T18 1017-1022 GeneOrGeneProduct denotes IGF-I
T19 1035-1041 GeneOrGeneProduct denotes growth
T20 1120-1123 GeneOrGeneProduct denotes GHR
T21 1214-1218 GeneOrGeneProduct denotes GHBP
T22 1351-1354 GeneOrGeneProduct denotes GHR
T23 1356-1360 GeneOrGeneProduct denotes even
T24 1393-1397 GeneOrGeneProduct denotes GHBP

LitCoin-Disease-MeSH

Id Subject Object Predicate Lexical cue originalLabel
T1 26-34 DiseaseOrPhenotypicFeature denotes syndrome D013577
T2 46-85 DiseaseOrPhenotypicFeature denotes insulin-like growth factor-I deficiency C563867

LitCoin-GeneOrGeneProduct-v3

Id Subject Object Predicate Lexical cue
T1 46-74 GeneOrGeneProduct denotes insulin-like growth factor-I
T2 140-151 GeneOrGeneProduct denotes GH receptor
T3 315-326 GeneOrGeneProduct denotes GH receptor
T4 328-331 GeneOrGeneProduct denotes GHR
T5 430-445 GeneOrGeneProduct denotes binding protein
T6 447-451 GeneOrGeneProduct denotes GHBP
T7 672-677 GeneOrGeneProduct denotes IGF-I
T8 682-689 GeneOrGeneProduct denotes IGFBP-3
T9 716-720 GeneOrGeneProduct denotes GHBP
T10 800-803 GeneOrGeneProduct denotes GHR
T11 1017-1022 GeneOrGeneProduct denotes IGF-I
T12 1120-1123 GeneOrGeneProduct denotes GHR
T13 1214-1218 GeneOrGeneProduct denotes GHBP
T14 1351-1354 GeneOrGeneProduct denotes GHR
T15 1393-1397 GeneOrGeneProduct denotes GHBP

LitCoin_Mondo_095

Id Subject Object Predicate Lexical cue mondo_id
T1 26-34 DiseaseOrPhenotypicFeature denotes syndrome 0002254
T2 46-85 DiseaseOrPhenotypicFeature denotes insulin-like growth factor-I deficiency 0012110
T3 359-364 DiseaseOrPhenotypicFeature denotes child 0017015
T4 588-593 DiseaseOrPhenotypicFeature denotes child 0017015
T5 613-615 DiseaseOrPhenotypicFeature denotes SD 0011449
T6 1124-1127 DiseaseOrPhenotypicFeature denotes can 0012833

LitCoin-MeSH-Disease-2

Id Subject Object Predicate Lexical cue ID:
T1 9-25 DiseaseOrPhenotypicFeature denotes GH insensitivity DISEASE
T2 26-34 DiseaseOrPhenotypicFeature denotes syndrome D013577
T3 46-85 DiseaseOrPhenotypicFeature denotes insulin-like growth factor-I deficiency C563867
T4 244-260 DiseaseOrPhenotypicFeature denotes GH insensitivity DISEASE
T5 265-279 DiseaseOrPhenotypicFeature denotes IGF deficiency DISEASE
T6 377-391 DiseaseOrPhenotypicFeature denotes growth failure DISEASE
T7 479-495 DiseaseOrPhenotypicFeature denotes GH insensitivity DISEASE
T8 1138-1154 DiseaseOrPhenotypicFeature denotes GH insensitivity DISEASE
T9 1159-1173 DiseaseOrPhenotypicFeature denotes IGF deficiency DISEASE

LitCoin-MONDO_bioort2019

Id Subject Object Predicate Lexical cue #label
T1 9-25 DiseaseOrPhenotypicFeature denotes GH insensitivity DISEASE
T2 46-85 DiseaseOrPhenotypicFeature denotes insulin-like growth factor-I deficiency C563867
T3 244-260 DiseaseOrPhenotypicFeature denotes GH insensitivity DISEASE
T4 265-279 DiseaseOrPhenotypicFeature denotes IGF deficiency DISEASE
T5 377-391 DiseaseOrPhenotypicFeature denotes growth failure DISEASE
T6 479-495 DiseaseOrPhenotypicFeature denotes GH insensitivity DISEASE
T7 1138-1154 DiseaseOrPhenotypicFeature denotes GH insensitivity DISEASE
T8 1159-1173 DiseaseOrPhenotypicFeature denotes IGF deficiency DISEASE

LitCoin-Chemical-MeSH-CHEBI

Id Subject Object Predicate Lexical cue ID:
T1 46-74 ChemicalEntity denotes insulin-like growth factor-I http://purl.obolibrary.org/obo/CHEBI_80343

LitCoin-training-merged

Id Subject Object Predicate Lexical cue #label ID:
T1 46-74 ChemicalEntity denotes insulin-like growth factor-I http://purl.obolibrary.org/obo/CHEBI_80343
T15 1393-1397 GeneOrGeneProduct denotes GHBP
T14 1351-1354 GeneOrGeneProduct denotes GHR
T13 1214-1218 GeneOrGeneProduct denotes GHBP
T12 1120-1123 GeneOrGeneProduct denotes GHR
T11 1017-1022 GeneOrGeneProduct denotes IGF-I
T10 800-803 GeneOrGeneProduct denotes GHR
T9 716-720 GeneOrGeneProduct denotes GHBP
T8 682-689 GeneOrGeneProduct denotes IGFBP-3
T7 672-677 GeneOrGeneProduct denotes IGF-I
T6 447-451 GeneOrGeneProduct denotes GHBP
T5 430-445 GeneOrGeneProduct denotes binding protein
T4 328-331 GeneOrGeneProduct denotes GHR
T3 315-326 GeneOrGeneProduct denotes GH receptor
T2 140-151 GeneOrGeneProduct denotes GH receptor
T50387 46-74 GeneOrGeneProduct denotes insulin-like growth factor-I
T33197 1159-1173 DiseaseOrPhenotypicFeature denotes IGF deficiency DISEASE
T98790 1138-1154 DiseaseOrPhenotypicFeature denotes GH insensitivity DISEASE
T33987 479-495 DiseaseOrPhenotypicFeature denotes GH insensitivity DISEASE
T84451 377-391 DiseaseOrPhenotypicFeature denotes growth failure DISEASE
T7069 265-279 DiseaseOrPhenotypicFeature denotes IGF deficiency DISEASE
T62838 244-260 DiseaseOrPhenotypicFeature denotes GH insensitivity DISEASE
T60176 46-85 DiseaseOrPhenotypicFeature denotes insulin-like growth factor-I deficiency C563867
T31650 9-25 DiseaseOrPhenotypicFeature denotes GH insensitivity DISEASE
T72260 903-910 SequenceVariant denotes 899dupC
T53973 837-842 SequenceVariant denotes R211H

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 377-391 HP_0001510 denotes growth failure

Allie

Id Subject Object Predicate Lexical cue
SS1_20606392_2_0 315-326 expanded denotes GH receptor
SS2_20606392_2_0 328-331 abbr denotes GHR
SS1_20606392_3_0 427-445 expanded denotes GH-binding protein
SS2_20606392_3_0 447-451 abbr denotes GHBP
AE1_20606392_2_0 SS1_20606392_2_0 SS2_20606392_2_0 abbreviatedTo GH receptor,GHR
AE1_20606392_3_0 SS1_20606392_3_0 SS2_20606392_3_0 abbreviatedTo GH-binding protein,GHBP

tmVarCorpus

Id Subject Object Predicate Lexical cue
T1 837-842 ProteinMutation:p|SUB|R|211|H denotes R211H
T2 903-910 DNAMutation:|DUP|899|C| denotes 899dupC