PubMed:7811247
Annnotations
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-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 |
biored-valid-deepseek-nr-ng
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-35 | DiseaseOrPhenotypicFeature | denotes | X-linked adrenoleukodystrophy (ALD) |
| T2 | 61-69 | GeneOrGeneProduct | denotes | ALD gene |
| T3 | 152-183 | GeneOrGeneProduct | denotes | adrenoleukodystrophy (ALD) cDNA |
| T4 | 324-332 | GeneOrGeneProduct | denotes | ALD gene |
| T5 | 345-353 | ChemicalEntity | denotes | cytosine |
| T6 | 357-364 | ChemicalEntity | denotes | guanine |
| T7 | 440-447 | ChemicalEntity | denotes | proline |
| T8 | 455-463 | ChemicalEntity | denotes | arginine |
| T9 | 518-530 | DiseaseOrPhenotypicFeature | denotes | cerebral ALD |
| T10 | 536-557 | DiseaseOrPhenotypicFeature | denotes | adrenomyeloneuropathy |
| T11 | 563-575 | DiseaseOrPhenotypicFeature | denotes | Addison only |
| T12 | 628-655 | ChemicalEntity | denotes | very long chain fatty acids |
| T13 | 745-757 | DiseaseOrPhenotypicFeature | denotes | ALD patients |
biored-valid
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-29 | DiseaseOrPhenotypicFeature | denotes | X-linked adrenoleukodystrophy |
| T2 | 31-34 | DiseaseOrPhenotypicFeature | denotes | ALD |
| T3 | 61-64 | GeneOrGeneProduct | denotes | ALD |
| T4 | 152-172 | DiseaseOrPhenotypicFeature | denotes | adrenoleukodystrophy |
| T5 | 174-177 | DiseaseOrPhenotypicFeature | denotes | ALD |
| T6 | 191-198 | OrganismTaxon | denotes | patient |
| T7 | 215-218 | DiseaseOrPhenotypicFeature | denotes | ALD |
| T8 | 324-327 | GeneOrGeneProduct | denotes | ALD |
| T9 | 345-396 | SequenceVariant | denotes | cytosine to guanine transversion at nucleotide 1451 |
| T10 | 440-463 | SequenceVariant | denotes | proline 484 by arginine |
| T11 | 494-501 | OrganismTaxon | denotes | patient |
| T12 | 527-530 | DiseaseOrPhenotypicFeature | denotes | ALD |
| T13 | 536-557 | DiseaseOrPhenotypicFeature | denotes | adrenomyeloneuropathy |
| T14 | 563-570 | DiseaseOrPhenotypicFeature | denotes | Addison |
| T15 | 633-655 | ChemicalEntity | denotes | long chain fatty acids |
| T16 | 745-748 | DiseaseOrPhenotypicFeature | denotes | ALD |
| T17 | 749-757 | OrganismTaxon | denotes | patients |
biored-valid-deepseek-nr-g
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-35 | DiseaseOrPhenotypicFeature | denotes | X-linked adrenoleukodystrophy (ALD) |
| T2 | 61-69 | GeneOrGeneProduct | denotes | ALD gene |
| T3 | 152-178 | DiseaseOrPhenotypicFeature | denotes | adrenoleukodystrophy (ALD) |
| T4 | 179-183 | GeneOrGeneProduct | denotes | cDNA |
| T5 | 204-218 | DiseaseOrPhenotypicFeature | denotes | adolescent ALD |
| T6 | 392-396 | SequenceVariant | denotes | 1451 |
| T7 | 400-409 | SequenceVariant | denotes | exon five |
| T8 | 440-447 | SequenceVariant | denotes | proline |
| T9 | 448-451 | SequenceVariant | denotes | 484 |
| T10 | 455-463 | SequenceVariant | denotes | arginine |
| T11 | 518-530 | DiseaseOrPhenotypicFeature | denotes | cerebral ALD |
| T12 | 536-557 | DiseaseOrPhenotypicFeature | denotes | adrenomyeloneuropathy |
| T13 | 563-575 | DiseaseOrPhenotypicFeature | denotes | Addison only |
| T14 | 628-655 | ChemicalEntity | denotes | very long chain fatty acids |
| T15 | 804-821 | SequenceVariant | denotes | missense mutation |
biored-valid-deepseek-r-ng
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-35 | DiseaseOrPhenotypicFeature | denotes | X-linked adrenoleukodystrophy (ALD) |
| T2 | 61-69 | GeneOrGeneProduct | denotes | ALD gene |
| T3 | 204-218 | DiseaseOrPhenotypicFeature | denotes | adolescent ALD |
| T4 | 345-409 | SequenceVariant | denotes | cytosine to guanine transversion at nucleotide 1451 in exon five |
| T5 | 424-463 | SequenceVariant | denotes | substitution of proline 484 by arginine |
| T6 | 518-530 | DiseaseOrPhenotypicFeature | denotes | cerebral ALD |
| T7 | 536-557 | DiseaseOrPhenotypicFeature | denotes | adrenomyeloneuropathy |
| T8 | 563-575 | DiseaseOrPhenotypicFeature | denotes | Addison only |
| T9 | 628-655 | ChemicalEntity | denotes | very long chain fatty acids |
| T10 | 804-821 | SequenceVariant | denotes | missense mutation |
biored-valid-deepseek-r-g
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-29 | DiseaseOrPhenotypicFeature | denotes | X-linked adrenoleukodystrophy |
| T2 | 31-34 | DiseaseOrPhenotypicFeature | denotes | ALD |
| T3 | 61-69 | GeneOrGeneProduct | denotes | ALD gene |
| T4 | 152-172 | GeneOrGeneProduct | denotes | adrenoleukodystrophy |
| T5 | 174-177 | GeneOrGeneProduct | denotes | ALD |
| T6 | 179-183 | GeneOrGeneProduct | denotes | cDNA |
| T7 | 204-218 | DiseaseOrPhenotypicFeature | denotes | adolescent ALD |
| T8 | 324-332 | GeneOrGeneProduct | denotes | ALD gene |
| T9 | 345-377 | SequenceVariant | denotes | cytosine to guanine transversion |
| T10 | 440-463 | SequenceVariant | denotes | proline 484 by arginine |
| T11 | 518-530 | DiseaseOrPhenotypicFeature | denotes | cerebral ALD |
| T12 | 536-557 | DiseaseOrPhenotypicFeature | denotes | adrenomyeloneuropathy |
| T13 | 563-570 | DiseaseOrPhenotypicFeature | denotes | Addison |
| T14 | 628-655 | ChemicalEntity | denotes | very long chain fatty acids |
| T15 | 804-821 | SequenceVariant | denotes | missense mutation |
biored-valid-gemini-nr-ng
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-29 | DiseaseOrPhenotypicFeature | denotes | X-linked adrenoleukodystrophy |
| T2 | 31-34 | DiseaseOrPhenotypicFeature | denotes | ALD |
| T3 | 61-69 | GeneOrGeneProduct | denotes | ALD gene |
| T4 | 152-172 | DiseaseOrPhenotypicFeature | denotes | adrenoleukodystrophy |
| T5 | 174-177 | DiseaseOrPhenotypicFeature | denotes | ALD |
| T6 | 179-183 | GeneOrGeneProduct | denotes | cDNA |
| T7 | 204-218 | DiseaseOrPhenotypicFeature | denotes | adolescent ALD |
| T8 | 324-332 | GeneOrGeneProduct | denotes | ALD gene |
| T9 | 345-353 | ChemicalEntity | denotes | cytosine |
| T10 | 357-364 | ChemicalEntity | denotes | guanine |
| T11 | 365-377 | SequenceVariant | denotes | transversion |
| T12 | 440-447 | ChemicalEntity | denotes | proline |
| T13 | 455-463 | ChemicalEntity | denotes | arginine |
| T14 | 518-530 | DiseaseOrPhenotypicFeature | denotes | cerebral ALD |
| T15 | 536-557 | DiseaseOrPhenotypicFeature | denotes | adrenomyeloneuropathy |
| T16 | 563-575 | DiseaseOrPhenotypicFeature | denotes | Addison only |
| T17 | 628-655 | ChemicalEntity | denotes | very long chain fatty acids |
| T18 | 804-821 | SequenceVariant | denotes | missense mutation |
| T19 | 836-843 | DiseaseOrPhenotypicFeature | denotes | disease |
| T20 | 866-882 | DiseaseOrPhenotypicFeature | denotes | metabolic defect |
biored-valid-gemini-r-g
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-35 | DiseaseOrPhenotypicFeature | denotes | X-linked adrenoleukodystrophy (ALD) |
| T2 | 61-69 | GeneOrGeneProduct | denotes | ALD gene |
| T3 | 152-183 | GeneOrGeneProduct | denotes | adrenoleukodystrophy (ALD) cDNA |
| T4 | 204-218 | DiseaseOrPhenotypicFeature | denotes | adolescent ALD |
| T5 | 324-332 | GeneOrGeneProduct | denotes | ALD gene |
| T6 | 345-396 | SequenceVariant | denotes | cytosine to guanine transversion at nucleotide 1451 |
| T7 | 424-463 | SequenceVariant | denotes | substitution of proline 484 by arginine |
| T8 | 518-530 | DiseaseOrPhenotypicFeature | denotes | cerebral ALD |
| T9 | 536-557 | DiseaseOrPhenotypicFeature | denotes | adrenomyeloneuropathy |
| T10 | 563-575 | DiseaseOrPhenotypicFeature | denotes | Addison only |
| T11 | 628-655 | ChemicalEntity | denotes | very long chain fatty acids |
| T12 | 745-757 | DiseaseOrPhenotypicFeature | denotes | ALD patients |
| T13 | 804-821 | SequenceVariant | denotes | missense mutation |
| T14 | 836-843 | DiseaseOrPhenotypicFeature | denotes | disease |
| T15 | 866-882 | DiseaseOrPhenotypicFeature | denotes | metabolic defect |
biored-valid-gemini-r-ng
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-29 | DiseaseOrPhenotypicFeature | denotes | X-linked adrenoleukodystrophy |
| T2 | 31-34 | DiseaseOrPhenotypicFeature | denotes | ALD |
| T3 | 45-53 | SequenceVariant | denotes | mutation |
| T4 | 61-69 | GeneOrGeneProduct | denotes | ALD gene |
| T5 | 123-133 | DiseaseOrPhenotypicFeature | denotes | phenotypes |
| T6 | 152-172 | DiseaseOrPhenotypicFeature | denotes | adrenoleukodystrophy |
| T7 | 174-177 | DiseaseOrPhenotypicFeature | denotes | ALD |
| T8 | 179-183 | ChemicalEntity | denotes | cDNA |
| T9 | 204-218 | DiseaseOrPhenotypicFeature | denotes | adolescent ALD |
| T10 | 324-332 | GeneOrGeneProduct | denotes | ALD gene |
| T11 | 345-353 | ChemicalEntity | denotes | cytosine |
| T12 | 357-364 | ChemicalEntity | denotes | guanine |
| T13 | 365-377 | SequenceVariant | denotes | transversion |
| T14 | 424-436 | SequenceVariant | denotes | substitution |
| T15 | 440-447 | ChemicalEntity | denotes | proline |
| T16 | 455-463 | ChemicalEntity | denotes | arginine |
| T17 | 518-530 | DiseaseOrPhenotypicFeature | denotes | cerebral ALD |
| T18 | 536-557 | DiseaseOrPhenotypicFeature | denotes | adrenomyeloneuropathy |
| T19 | 563-570 | DiseaseOrPhenotypicFeature | denotes | Addison |
| T20 | 591-602 | DiseaseOrPhenotypicFeature | denotes | symptomatic |
| T21 | 628-655 | ChemicalEntity | denotes | very long chain fatty acids |
| T22 | 670-678 | SequenceVariant | denotes | mutation |
| T23 | 745-748 | DiseaseOrPhenotypicFeature | denotes | ALD |
| T24 | 804-821 | SequenceVariant | denotes | missense mutation |
| T25 | 836-843 | DiseaseOrPhenotypicFeature | denotes | disease |
| T26 | 866-882 | DiseaseOrPhenotypicFeature | denotes | metabolic defect |
| T27 | 898-908 | DiseaseOrPhenotypicFeature | denotes | phenotypes |
biored-valid-gpt-nr-ng
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-35 | DiseaseOrPhenotypicFeature | denotes | X-linked adrenoleukodystrophy (ALD) |
| T2 | 61-69 | GeneOrGeneProduct | denotes | ALD gene |
| T3 | 152-178 | DiseaseOrPhenotypicFeature | denotes | adrenoleukodystrophy (ALD) |
| T4 | 179-183 | ChemicalEntity | denotes | cDNA |
| T5 | 204-218 | DiseaseOrPhenotypicFeature | denotes | adolescent ALD |
| T6 | 324-332 | GeneOrGeneProduct | denotes | ALD gene |
| T7 | 345-353 | ChemicalEntity | denotes | cytosine |
| T8 | 357-364 | ChemicalEntity | denotes | guanine |
| T9 | 424-463 | SequenceVariant | denotes | substitution of proline 484 by arginine |
| T10 | 518-530 | DiseaseOrPhenotypicFeature | denotes | cerebral ALD |
| T11 | 536-557 | DiseaseOrPhenotypicFeature | denotes | adrenomyeloneuropathy |
| T12 | 563-570 | DiseaseOrPhenotypicFeature | denotes | Addison |
| T13 | 628-655 | ChemicalEntity | denotes | very long chain fatty acids |
| T14 | 745-748 | DiseaseOrPhenotypicFeature | denotes | ALD |
| T15 | 804-821 | SequenceVariant | denotes | missense mutation |
| T16 | 866-882 | DiseaseOrPhenotypicFeature | denotes | metabolic defect |
biored-valid-gpt-nr-g
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-35 | DiseaseOrPhenotypicFeature | denotes | X-linked adrenoleukodystrophy (ALD) |
| T2 | 61-69 | GeneOrGeneProduct | denotes | ALD gene |
| T3 | 152-183 | GeneOrGeneProduct | denotes | adrenoleukodystrophy (ALD) cDNA |
| T4 | 324-332 | GeneOrGeneProduct | denotes | ALD gene |
| T5 | 345-409 | SequenceVariant | denotes | cytosine to guanine transversion at nucleotide 1451 in exon five |
| T6 | 424-463 | SequenceVariant | denotes | substitution of proline 484 by arginine |
| T7 | 518-530 | DiseaseOrPhenotypicFeature | denotes | cerebral ALD |
| T8 | 536-557 | DiseaseOrPhenotypicFeature | denotes | adrenomyeloneuropathy |
| T9 | 563-570 | DiseaseOrPhenotypicFeature | denotes | Addison |
| T10 | 628-655 | ChemicalEntity | denotes | very long chain fatty acids |
| T11 | 745-748 | DiseaseOrPhenotypicFeature | denotes | ALD |
| T12 | 804-821 | SequenceVariant | denotes | missense mutation |
biored-valid-gpt-r-ng
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-29 | DiseaseOrPhenotypicFeature | denotes | X-linked adrenoleukodystrophy |
| T2 | 31-34 | DiseaseOrPhenotypicFeature | denotes | ALD |
| T3 | 39-53 | SequenceVariant | denotes | novel mutation |
| T4 | 61-69 | GeneOrGeneProduct | denotes | ALD gene |
| T5 | 152-172 | DiseaseOrPhenotypicFeature | denotes | adrenoleukodystrophy |
| T6 | 174-177 | DiseaseOrPhenotypicFeature | denotes | ALD |
| T7 | 179-183 | ChemicalEntity | denotes | cDNA |
| T8 | 204-218 | DiseaseOrPhenotypicFeature | denotes | adolescent ALD |
| T9 | 324-332 | GeneOrGeneProduct | denotes | ALD gene |
| T10 | 345-353 | ChemicalEntity | denotes | cytosine |
| T11 | 357-364 | ChemicalEntity | denotes | guanine |
| T12 | 424-463 | SequenceVariant | denotes | substitution of proline 484 by arginine |
| T13 | 518-530 | DiseaseOrPhenotypicFeature | denotes | cerebral ALD |
| T14 | 536-557 | DiseaseOrPhenotypicFeature | denotes | adrenomyeloneuropathy |
| T15 | 563-570 | DiseaseOrPhenotypicFeature | denotes | Addison |
| T16 | 628-655 | ChemicalEntity | denotes | very long chain fatty acids |
| T17 | 665-678 | SequenceVariant | denotes | this mutation |
| T18 | 745-748 | DiseaseOrPhenotypicFeature | denotes | ALD |
| T19 | 804-821 | SequenceVariant | denotes | missense mutation |
| T20 | 866-882 | DiseaseOrPhenotypicFeature | denotes | metabolic defect |
biored-valid-gpt-r-g
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-29 | DiseaseOrPhenotypicFeature | denotes | X-linked adrenoleukodystrophy |
| T2 | 31-34 | DiseaseOrPhenotypicFeature | denotes | ALD |
| T3 | 45-53 | SequenceVariant | denotes | mutation |
| T4 | 61-69 | GeneOrGeneProduct | denotes | ALD gene |
| T5 | 152-183 | GeneOrGeneProduct | denotes | adrenoleukodystrophy (ALD) cDNA |
| T6 | 324-332 | GeneOrGeneProduct | denotes | ALD gene |
| T7 | 345-396 | SequenceVariant | denotes | cytosine to guanine transversion at nucleotide 1451 |
| T8 | 424-463 | SequenceVariant | denotes | substitution of proline 484 by arginine |
| T9 | 518-530 | DiseaseOrPhenotypicFeature | denotes | cerebral ALD |
| T10 | 536-557 | DiseaseOrPhenotypicFeature | denotes | adrenomyeloneuropathy |
| T11 | 563-570 | DiseaseOrPhenotypicFeature | denotes | Addison |
| T12 | 628-655 | ChemicalEntity | denotes | very long chain fatty acids |
| T13 | 670-678 | SequenceVariant | denotes | mutation |
| T14 | 745-748 | DiseaseOrPhenotypicFeature | denotes | ALD |
| T15 | 804-821 | SequenceVariant | denotes | missense mutation |
biored-valid-gemini-nr-g
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-35 | DiseaseOrPhenotypicFeature | denotes | X-linked adrenoleukodystrophy (ALD) |
| T2 | 61-69 | GeneOrGeneProduct | denotes | ALD gene |
| T3 | 152-178 | DiseaseOrPhenotypicFeature | denotes | adrenoleukodystrophy (ALD) |
| T4 | 204-218 | DiseaseOrPhenotypicFeature | denotes | adolescent ALD |
| T5 | 324-332 | GeneOrGeneProduct | denotes | ALD gene |
| T6 | 345-396 | SequenceVariant | denotes | cytosine to guanine transversion at nucleotide 1451 |
| T7 | 424-463 | SequenceVariant | denotes | substitution of proline 484 by arginine |
| T8 | 518-530 | DiseaseOrPhenotypicFeature | denotes | cerebral ALD |
| T9 | 536-557 | DiseaseOrPhenotypicFeature | denotes | adrenomyeloneuropathy |
| T10 | 563-575 | DiseaseOrPhenotypicFeature | denotes | Addison only |
| T11 | 804-821 | SequenceVariant | denotes | missense mutation |
biored-valid-gpt-r-m
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-29 | DiseaseOrPhenotypicFeature | denotes | X-linked adrenoleukodystrophy |
| T2 | 31-34 | DiseaseOrPhenotypicFeature | denotes | ALD |
| T3 | 45-53 | SequenceVariant | denotes | mutation |
| T4 | 152-178 | GeneOrGeneProduct | denotes | adrenoleukodystrophy (ALD) |
| T5 | 191-198 | OrganismTaxon | denotes | patient |
| T6 | 324-327 | GeneOrGeneProduct | denotes | ALD |
| T7 | 345-353 | ChemicalEntity | denotes | cytosine |
| T8 | 357-364 | ChemicalEntity | denotes | guanine |
| T9 | 424-463 | SequenceVariant | denotes | substitution of proline 484 by arginine |
| T10 | 494-501 | OrganismTaxon | denotes | patient |
| T11 | 518-530 | DiseaseOrPhenotypicFeature | denotes | cerebral ALD |
| T12 | 536-557 | DiseaseOrPhenotypicFeature | denotes | adrenomyeloneuropathy |
| T13 | 563-570 | DiseaseOrPhenotypicFeature | denotes | Addison |
| T14 | 628-655 | ChemicalEntity | denotes | very long chain fatty acids |
| T15 | 670-678 | SequenceVariant | denotes | mutation |
| T16 | 745-748 | DiseaseOrPhenotypicFeature | denotes | ALD |
| T17 | 749-757 | OrganismTaxon | denotes | patients |
| T18 | 773-781 | OrganismTaxon | denotes | controls |
| T19 | 804-821 | SequenceVariant | denotes | missense mutation |
biored-valid-gemini-r-m
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-35 | DiseaseOrPhenotypicFeature | denotes | X-linked adrenoleukodystrophy (ALD) |
| T2 | 61-69 | GeneOrGeneProduct | denotes | ALD gene |
| T3 | 152-183 | GeneOrGeneProduct | denotes | adrenoleukodystrophy (ALD) cDNA |
| T4 | 191-198 | OrganismTaxon | denotes | patient |
| T5 | 204-218 | DiseaseOrPhenotypicFeature | denotes | adolescent ALD |
| T6 | 324-332 | GeneOrGeneProduct | denotes | ALD gene |
| T7 | 345-377 | SequenceVariant | denotes | cytosine to guanine transversion |
| T8 | 424-463 | SequenceVariant | denotes | substitution of proline 484 by arginine |
| T9 | 494-501 | OrganismTaxon | denotes | patient |
| T10 | 518-530 | DiseaseOrPhenotypicFeature | denotes | cerebral ALD |
| T11 | 536-557 | DiseaseOrPhenotypicFeature | denotes | adrenomyeloneuropathy |
| T12 | 563-575 | DiseaseOrPhenotypicFeature | denotes | Addison only |
| T13 | 603-609 | OrganismTaxon | denotes | mother |
| T14 | 628-655 | ChemicalEntity | denotes | very long chain fatty acids |
| T15 | 707-725 | OrganismTaxon | denotes | unaffected persons |
| T16 | 745-757 | DiseaseOrPhenotypicFeature | denotes | ALD patients |
| T17 | 773-781 | OrganismTaxon | denotes | controls |
| T18 | 804-821 | SequenceVariant | denotes | missense mutation |
| T19 | 866-882 | DiseaseOrPhenotypicFeature | denotes | metabolic defect |
biored-valid-deepseek-r-m
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-35 | DiseaseOrPhenotypicFeature | denotes | X-linked adrenoleukodystrophy (ALD) |
| T2 | 61-69 | GeneOrGeneProduct | denotes | ALD gene |
| T3 | 152-183 | GeneOrGeneProduct | denotes | adrenoleukodystrophy (ALD) cDNA |
| T4 | 204-218 | DiseaseOrPhenotypicFeature | denotes | adolescent ALD |
| T5 | 324-332 | GeneOrGeneProduct | denotes | ALD gene |
| T6 | 345-377 | SequenceVariant | denotes | cytosine to guanine transversion |
| T7 | 440-463 | SequenceVariant | denotes | proline 484 by arginine |
| T8 | 518-530 | DiseaseOrPhenotypicFeature | denotes | cerebral ALD |
| T9 | 536-557 | DiseaseOrPhenotypicFeature | denotes | adrenomyeloneuropathy |
| T10 | 563-570 | DiseaseOrPhenotypicFeature | denotes | Addison |
| T11 | 628-655 | ChemicalEntity | denotes | very long chain fatty acids |
| T12 | 745-748 | DiseaseOrPhenotypicFeature | denotes | ALD |
| T13 | 804-821 | SequenceVariant | denotes | missense mutation |
NCBI-Disease-Train
| Id | Subject | Object | Predicate | Lexical cue | database_id |
|---|---|---|---|---|---|
| T243 | 0-29 | SpecificDisease | denotes | X-linked adrenoleukodystrophy | D000326 |
| T244 | 31-34 | SpecificDisease | denotes | ALD | D000326 |
| T245 | 61-64 | Modifier | denotes | ALD | D000326 |
| T246 | 152-172 | Modifier | denotes | adrenoleukodystrophy | D000326 |
| T247 | 174-177 | Modifier | denotes | ALD | D000326 |
| T248 | 204-218 | SpecificDisease | denotes | adolescent ALD | D000326 |
| T249 | 324-327 | Modifier | denotes | ALD | D000326 |
| T250 | 518-530 | SpecificDisease | denotes | cerebral ALD | D000326 |
| T251 | 536-557 | SpecificDisease | denotes | adrenomyeloneuropathy | D000326 |
| T252 | 563-575 | SpecificDisease | denotes | Addison only | D000224 |
| T253 | 745-748 | Modifier | denotes | ALD | D000326 |
NCBI-Disease-Corpus-All
| Id | Subject | Object | Predicate | Lexical cue | database_id |
|---|---|---|---|---|---|
| T243 | 0-29 | SpecificDisease | denotes | X-linked adrenoleukodystrophy | D000326 |
| T244 | 31-34 | SpecificDisease | denotes | ALD | D000326 |
| T245 | 61-64 | Modifier | denotes | ALD | D000326 |
| T246 | 152-172 | Modifier | denotes | adrenoleukodystrophy | D000326 |
| T247 | 174-177 | Modifier | denotes | ALD | D000326 |
| T248 | 204-218 | SpecificDisease | denotes | adolescent ALD | D000326 |
| T249 | 324-327 | Modifier | denotes | ALD | D000326 |
| T250 | 518-530 | SpecificDisease | denotes | cerebral ALD | D000326 |
| T251 | 536-557 | SpecificDisease | denotes | adrenomyeloneuropathy | D000326 |
| T252 | 563-575 | SpecificDisease | denotes | Addison only | D000224 |
| T253 | 745-748 | Modifier | denotes | ALD | D000326 |
NCBI-Disease-Corpus-2stage-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 9-29 | SpecificDisease | denotes | adrenoleukodystrophy |
| T2 | 31-34 | SpecificDisease | denotes | ALD |
| T3 | 61-64 | Modifier | denotes | ALD |
| T4 | 152-172 | SpecificDisease | denotes | adrenoleukodystrophy |
| T5 | 174-177 | SpecificDisease | denotes | ALD |
| T6 | 215-218 | SpecificDisease | denotes | ALD |
| T7 | 324-327 | Modifier | denotes | ALD |
| T8 | 527-530 | SpecificDisease | denotes | ALD |
| T9 | 536-557 | SpecificDisease | denotes | adrenomyeloneuropathy |
| T10 | 563-570 | SpecificDisease | denotes | Addison |
| T11 | 745-748 | SpecificDisease | denotes | ALD |
NCBI-Disease-Corpus-rezarta-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 9-29 | SpecificDisease | denotes | adrenoleukodystrophy |
| T2 | 31-34 | SpecificDisease | denotes | ALD |
| T3 | 61-64 | Modifier | denotes | ALD |
| T4 | 152-172 | SpecificDisease | denotes | adrenoleukodystrophy |
| T5 | 174-177 | SpecificDisease | denotes | ALD |
| T6 | 215-218 | SpecificDisease | denotes | ALD |
| T7 | 324-327 | Modifier | denotes | ALD |
| T8 | 527-530 | SpecificDisease | denotes | ALD |
| T9 | 536-557 | SpecificDisease | denotes | adrenomyeloneuropathy |
| T10 | 563-570 | SpecificDisease | denotes | Addison |
| T11 | 745-748 | SpecificDisease | denotes | ALD |
NCBI-Disease-Corpus-4oGuideline-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 9-29 | SpecificDisease | denotes | adrenoleukodystrophy |
| T2 | 152-172 | SpecificDisease | denotes | adrenoleukodystrophy |
| T3 | 215-218 | SpecificDisease | denotes | ALD |
| T4 | 518-530 | SpecificDisease | denotes | cerebral ALD |
| T5 | 536-557 | SpecificDisease | denotes | adrenomyeloneuropathy |
| T6 | 563-570 | SpecificDisease | denotes | Addison |
| T7 | 745-748 | SpecificDisease | denotes | ALD |
| T8 | 836-843 | SpecificDisease | denotes | disease |
NCBI-Disease-Corpus-Simple-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-35 | SpecificDisease | denotes | X-linked adrenoleukodystrophy (ALD) |
| T2 | 61-64 | SpecificDisease | denotes | ALD |
| T3 | 152-178 | SpecificDisease | denotes | adrenoleukodystrophy (ALD) |
| T4 | 215-218 | SpecificDisease | denotes | ALD |
| T5 | 324-327 | SpecificDisease | denotes | ALD |
| T6 | 518-530 | DiseaseClass | denotes | cerebral ALD |
| T7 | 536-557 | SpecificDisease | denotes | adrenomyeloneuropathy |
| T8 | 563-570 | SpecificDisease | denotes | Addison |
| T9 | 745-748 | SpecificDisease | denotes | ALD |