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PubMed:7811247 JSONTXT

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TEST-DiseaseOrPhenotypicFeature

Id Subject Object Predicate Lexical cue #label
T1 9-29 DiseaseOrPhenotypicFeature denotes adrenoleukodystrophy D000326
T2 31-34 DiseaseOrPhenotypicFeature denotes ALD D000326
T3 61-64 DiseaseOrPhenotypicFeature denotes ALD D000326
T4 152-172 DiseaseOrPhenotypicFeature denotes adrenoleukodystrophy D000326
T5 174-177 DiseaseOrPhenotypicFeature denotes ALD D000326
T6 215-218 DiseaseOrPhenotypicFeature denotes ALD D000326
T7 324-327 DiseaseOrPhenotypicFeature denotes ALD D000326
T8 527-530 DiseaseOrPhenotypicFeature denotes ALD D000326
T9 536-557 DiseaseOrPhenotypicFeature denotes adrenomyeloneuropathy D000326
T10 745-748 DiseaseOrPhenotypicFeature denotes ALD D000326

TEST-ChemicalEntity

Id Subject Object Predicate Lexical cue ID:
T1 345-353 ChemicalEntity denotes cytosine D003596|http://purl.obolibrary.org/obo/CHEBI_16040
T3 357-364 ChemicalEntity denotes guanine D006147|http://purl.obolibrary.org/obo/CHEBI_16235
T5 440-447 ChemicalEntity denotes proline http://purl.obolibrary.org/obo/CHEBI_26271|http://purl.obolibrary.org/obo/CHEBI_17203
T7 455-463 ChemicalEntity denotes arginine http://purl.obolibrary.org/obo/CHEBI_32696|http://purl.obolibrary.org/obo/CHEBI_29016|http://purl.obolibrary.org/obo/CHEBI_16467
T10 633-655 ChemicalEntity denotes long chain fatty acids http://purl.obolibrary.org/obo/CHEBI_15904

TEST-OrganismTaxon

Id Subject Object Predicate Lexical cue
T1 191-198 OrganismTaxon denotes patient
T2 494-501 OrganismTaxon denotes patient
T3 749-757 OrganismTaxon denotes patients

Test-GeneOrGeneProduct

Id Subject Object Predicate Lexical cue
T1 633-655 GeneOrGeneProduct denotes long chain fatty acids

Test-merged

Id Subject Object Predicate Lexical cue #label ID:
T10 745-748 DiseaseOrPhenotypicFeature denotes ALD D000326
T9 536-557 DiseaseOrPhenotypicFeature denotes adrenomyeloneuropathy D000326
T8 527-530 DiseaseOrPhenotypicFeature denotes ALD D000326
T7 324-327 DiseaseOrPhenotypicFeature denotes ALD D000326
T6 215-218 DiseaseOrPhenotypicFeature denotes ALD D000326
T5 174-177 DiseaseOrPhenotypicFeature denotes ALD D000326
T4 152-172 DiseaseOrPhenotypicFeature denotes adrenoleukodystrophy D000326
T3 61-64 DiseaseOrPhenotypicFeature denotes ALD D000326
T2 31-34 DiseaseOrPhenotypicFeature denotes ALD D000326
T1 9-29 DiseaseOrPhenotypicFeature denotes adrenoleukodystrophy D000326
T18858 749-757 OrganismTaxon denotes patients
T29740 494-501 OrganismTaxon denotes patient
T45995 191-198 OrganismTaxon denotes patient
T25434 633-655 ChemicalEntity denotes long chain fatty acids http://purl.obolibrary.org/obo/CHEBI_15904
T30708 455-463 ChemicalEntity denotes arginine http://purl.obolibrary.org/obo/CHEBI_16467|http://purl.obolibrary.org/obo/CHEBI_29016|http://purl.obolibrary.org/obo/CHEBI_32696
T70538 440-447 ChemicalEntity denotes proline http://purl.obolibrary.org/obo/CHEBI_17203|http://purl.obolibrary.org/obo/CHEBI_26271
T8763 357-364 ChemicalEntity denotes guanine http://purl.obolibrary.org/obo/CHEBI_16235|D006147
T14590 345-353 ChemicalEntity denotes cytosine http://purl.obolibrary.org/obo/CHEBI_16040|D003596

Test-merged-2

Id Subject Object Predicate Lexical cue #label ID:
T14590 345-353 ChemicalEntity denotes cytosine D003596|http://purl.obolibrary.org/obo/CHEBI_16040
T8763 357-364 ChemicalEntity denotes guanine D006147|http://purl.obolibrary.org/obo/CHEBI_16235
T70538 440-447 ChemicalEntity denotes proline http://purl.obolibrary.org/obo/CHEBI_26271|http://purl.obolibrary.org/obo/CHEBI_17203
T30708 455-463 ChemicalEntity denotes arginine http://purl.obolibrary.org/obo/CHEBI_32696|http://purl.obolibrary.org/obo/CHEBI_29016|http://purl.obolibrary.org/obo/CHEBI_16467
T25434 633-655 ChemicalEntity denotes long chain fatty acids http://purl.obolibrary.org/obo/CHEBI_15904
T88141 633-655 GeneOrGeneProduct denotes long chain fatty acids
T45995 191-198 OrganismTaxon denotes patient
T29740 494-501 OrganismTaxon denotes patient
T18858 749-757 OrganismTaxon denotes patients
T1 9-29 DiseaseOrPhenotypicFeature denotes adrenoleukodystrophy D000326
T2 31-34 DiseaseOrPhenotypicFeature denotes ALD D000326
T3 61-64 DiseaseOrPhenotypicFeature denotes ALD D000326
T4 152-172 DiseaseOrPhenotypicFeature denotes adrenoleukodystrophy D000326
T5 174-177 DiseaseOrPhenotypicFeature denotes ALD D000326
T6 215-218 DiseaseOrPhenotypicFeature denotes ALD D000326
T7 324-327 DiseaseOrPhenotypicFeature denotes ALD D000326
T8 527-530 DiseaseOrPhenotypicFeature denotes ALD D000326
T9 536-557 DiseaseOrPhenotypicFeature denotes adrenomyeloneuropathy D000326
T10 745-748 DiseaseOrPhenotypicFeature denotes ALD D000326

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-134 Sentence denotes X-linked adrenoleukodystrophy (ALD): a novel mutation of the ALD gene in 6 members of a family presenting with 5 different phenotypes.
TextSentencer_T2 135-277 Sentence denotes Fragments of the adrenoleukodystrophy (ALD) cDNA from a patient with adolescent ALD were amplified by polymerase chain reaction and subcloned.
TextSentencer_T3 278-464 Sentence denotes Bidirectional sequencing of the entire coding ALD gene disclosed a cytosine to guanine transversion at nucleotide 1451 in exon five, resulting in substitution of proline 484 by arginine.
TextSentencer_T4 465-782 Sentence denotes Five of nine siblings of the patient, comprising two cerebral ALD, one adrenomyeloneuropathy, one Addison only as well as the symptomatic mother (all accumulating very long chain fatty acids) carried this mutation, which was not found in the unaffected persons, in five unrelated ALD patients, and in twenty controls.
TextSentencer_T5 783-984 Sentence denotes We propose that this missense mutation generated the disease per se as well as the metabolic defect; the different phenotypes, however, must have originated by means of additional pathogenetic factors.
T1 0-134 Sentence denotes X-linked adrenoleukodystrophy (ALD): a novel mutation of the ALD gene in 6 members of a family presenting with 5 different phenotypes.
T2 135-277 Sentence denotes Fragments of the adrenoleukodystrophy (ALD) cDNA from a patient with adolescent ALD were amplified by polymerase chain reaction and subcloned.
T3 278-464 Sentence denotes Bidirectional sequencing of the entire coding ALD gene disclosed a cytosine to guanine transversion at nucleotide 1451 in exon five, resulting in substitution of proline 484 by arginine.
T4 465-782 Sentence denotes Five of nine siblings of the patient, comprising two cerebral ALD, one adrenomyeloneuropathy, one Addison only as well as the symptomatic mother (all accumulating very long chain fatty acids) carried this mutation, which was not found in the unaffected persons, in five unrelated ALD patients, and in twenty controls.
T5 783-984 Sentence denotes We propose that this missense mutation generated the disease per se as well as the metabolic defect; the different phenotypes, however, must have originated by means of additional pathogenetic factors.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 61-64 gene:215 denotes ALD
T1 0-29 disease:C0162309 denotes X-linked adrenoleukodystrophy
T2 61-64 gene:215 denotes ALD
T3 31-34 disease:C0162309 denotes ALD
R1 T0 T1 associated_with ALD,X-linked adrenoleukodystrophy
R2 T2 T3 associated_with ALD,ALD

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
7811247-0#61#64#gene215 61-64 gene215 denotes ALD
7811247-0#0#29#diseaseC0162309 0-29 diseaseC0162309 denotes X-linked adrenoleukodystrophy
7811247-0#31#34#diseaseC0162309 31-34 diseaseC0162309 denotes ALD
61#64#gene2150#29#diseaseC0162309 7811247-0#61#64#gene215 7811247-0#0#29#diseaseC0162309 associated_with ALD,X-linked adrenoleukodystrophy
61#64#gene21531#34#diseaseC0162309 7811247-0#61#64#gene215 7811247-0#31#34#diseaseC0162309 associated_with ALD,ALD

PubCasesORDO

Id Subject Object Predicate Lexical cue
TI1 0-29 ORDO:43 denotes X-linked adrenoleukodystrophy
TI2 31-34 ORDO:43 denotes ALD
AB1 174-177 ORDO:43 denotes ALD
TI3 61-64 ORDO:43 denotes ALD
AB2 215-218 ORDO:43 denotes ALD
AB3 324-327 ORDO:43 denotes ALD
AB4 527-530 ORDO:43 denotes ALD
AB5 745-748 ORDO:43 denotes ALD

NCBIDiseaseCorpus

Id Subject Object Predicate Lexical cue
T1 0-29 SpecificDisease:D000326 denotes X-linked adrenoleukodystrophy
T2 31-34 SpecificDisease:D000326 denotes ALD
T3 61-64 Modifier:D000326 denotes ALD
T4 152-172 Modifier:D000326 denotes adrenoleukodystrophy
T5 174-177 Modifier:D000326 denotes ALD
T6 204-218 SpecificDisease:D000326 denotes adolescent ALD
T7 324-327 Modifier:D000326 denotes ALD
T8 518-530 SpecificDisease:D000326 denotes cerebral ALD
T9 536-557 SpecificDisease:D000326 denotes adrenomyeloneuropathy
T10 563-575 SpecificDisease:D000224 denotes Addison only
T11 745-748 Modifier:D000326 denotes ALD