PubMed:1671881
Annnotations
LitCoin-entities-OrganismTaxon-PD
| Id | Subject | Object | Predicate | Lexical cue | db_id |
|---|---|---|---|---|---|
| T1 | 343-348 | OrganismTaxon | denotes | codon | NCBItxid:79338 |
LitCoin-sentences
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-65 | Sentence | denotes | Two distinct mutations at a single BamHI site in phenylketonuria. |
| T2 | 66-192 | Sentence | denotes | Classical phenylketonuria is an autosomal recessive disease caused by a deficiency of hepatic phenylalanine hydroxylase (PAH). |
| T3 | 193-410 | Sentence | denotes | The abolition of an invariant BamHI site located in the coding sequence of the PAH gene (exon 7) led to the recognition of two new point mutations at codon 272 and 273 (272gly----stop and 273ser----phe, respectively). |
| T4 | 411-534 | Sentence | denotes | Both mutations were detected in north eastern France or Belgium and occurred on the background of RFLP haplotype 7 alleles. |
| T5 | 535-701 | Sentence | denotes | The present study supports the view that the clinical heterogeneity in PKU is accounted for by the large variety of mutant genotypes associated with PAH deficiencies. |
LitCoin-entities
| Id | Subject | Object | Predicate | Lexical cue | db_id |
|---|---|---|---|---|---|
| 15 | 49-64 | DiseaseOrPhenotypicFeature | denotes | phenylketonuria | MESH:D010661 |
| 16 | 66-91 | DiseaseOrPhenotypicFeature | denotes | Classical phenylketonuria | MESH:D010661 |
| 17 | 98-125 | DiseaseOrPhenotypicFeature | denotes | autosomal recessive disease | MESH:D030342 |
| 18 | 138-185 | DiseaseOrPhenotypicFeature | denotes | deficiency of hepatic phenylalanine hydroxylase | OMIM:261600 |
| 19 | 187-190 | GeneOrGeneProduct | denotes | PAH | NCBIGene:5053 |
| 20 | 272-275 | GeneOrGeneProduct | denotes | PAH | NCBIGene:5053 |
| 21 | 362-376 | SequenceVariant | denotes | 272gly----stop | DBSNP:rs62514952 |
| 22 | 381-394 | SequenceVariant | denotes | 273ser----phe | DBSNP:rs62514953 |
| 23 | 606-609 | DiseaseOrPhenotypicFeature | denotes | PKU | MESH:D010661 |
| 24 | 684-700 | DiseaseOrPhenotypicFeature | denotes | PAH deficiencies | OMIM:261600 |
LitCoin_Mondo
| Id | Subject | Object | Predicate | Lexical cue | mondo_id |
|---|---|---|---|---|---|
| T1 | 49-64 | DiseaseOrPhenotypicFeature | denotes | phenylketonuria | 0009861 |
| T2 | 66-91 | DiseaseOrPhenotypicFeature | denotes | Classical phenylketonuria | 0019259 |
| T3 | 76-91 | DiseaseOrPhenotypicFeature | denotes | phenylketonuria | 0009861 |
| T4 | 98-125 | DiseaseOrPhenotypicFeature | denotes | autosomal recessive disease | 0006025 |
| T5 | 152-159 | DiseaseOrPhenotypicFeature | denotes | hepatic | 0002251 |
LitCoin-GeneOrGeneProduct-v0
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 13-22 | GeneOrGeneProduct | denotes | mutations |
| T2 | 160-185 | GeneOrGeneProduct | denotes | phenylalanine hydroxylase |
| T3 | 187-190 | GeneOrGeneProduct | denotes | PAH |
| T4 | 272-275 | GeneOrGeneProduct | denotes | PAH |
| T5 | 324-329 | GeneOrGeneProduct | denotes | point |
| T6 | 330-339 | GeneOrGeneProduct | denotes | mutations |
| T7 | 357-360 | GeneOrGeneProduct | denotes | 273 |
| T8 | 372-376 | GeneOrGeneProduct | denotes | stop |
| T9 | 416-425 | GeneOrGeneProduct | denotes | mutations |
| T10 | 509-513 | GeneOrGeneProduct | denotes | RFLP |
| T11 | 634-639 | GeneOrGeneProduct | denotes | large |
| T12 | 651-657 | GeneOrGeneProduct | denotes | mutant |
| T13 | 684-687 | GeneOrGeneProduct | denotes | PAH |
LitCoin-GeneOrGeneProduct-v2
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 160-185 | GeneOrGeneProduct | denotes | phenylalanine hydroxylase |
| T2 | 187-190 | GeneOrGeneProduct | denotes | PAH |
| T3 | 272-275 | GeneOrGeneProduct | denotes | PAH |
| T4 | 357-360 | GeneOrGeneProduct | denotes | 273 |
| T5 | 372-376 | GeneOrGeneProduct | denotes | stop |
| T6 | 634-639 | GeneOrGeneProduct | denotes | large |
| T7 | 651-657 | GeneOrGeneProduct | denotes | mutant |
| T8 | 684-687 | GeneOrGeneProduct | denotes | PAH |
LitCoin-Disease-MeSH
| Id | Subject | Object | Predicate | Lexical cue | originalLabel |
|---|---|---|---|---|---|
| T1 | 49-64 | DiseaseOrPhenotypicFeature | denotes | phenylketonuria | D010661 |
| T2 | 76-91 | DiseaseOrPhenotypicFeature | denotes | phenylketonuria | D010661 |
| T3 | 118-125 | DiseaseOrPhenotypicFeature | denotes | disease | D004194 |
| T4 | 684-700 | DiseaseOrPhenotypicFeature | denotes | PAH deficiencies | D010661 |
LitCoin-GeneOrGeneProduct-v3
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 160-185 | GeneOrGeneProduct | denotes | phenylalanine hydroxylase |
| T2 | 187-190 | GeneOrGeneProduct | denotes | PAH |
| T3 | 272-275 | GeneOrGeneProduct | denotes | PAH |
| T4 | 357-360 | GeneOrGeneProduct | denotes | 273 |
| T5 | 684-687 | GeneOrGeneProduct | denotes | PAH |
LitCoin_Mondo_095
| Id | Subject | Object | Predicate | Lexical cue | mondo_id |
|---|---|---|---|---|---|
| T1 | 49-64 | DiseaseOrPhenotypicFeature | denotes | phenylketonuria | 0009861 |
| T2 | 76-91 | DiseaseOrPhenotypicFeature | denotes | phenylketonuria | 0009861 |
| T3 | 98-125 | DiseaseOrPhenotypicFeature | denotes | autosomal recessive disease | 0006025 |
| T4 | 187-190 | DiseaseOrPhenotypicFeature | denotes | PAH | 0015924 |
| T5 | 272-275 | DiseaseOrPhenotypicFeature | denotes | PAH | 0015924 |
| T6 | 606-609 | DiseaseOrPhenotypicFeature | denotes | PKU | 0009861 |
| T7 | 684-687 | DiseaseOrPhenotypicFeature | denotes | PAH | 0015924 |
LitCoin-MeSH-Disease-2
| Id | Subject | Object | Predicate | Lexical cue | ID: |
|---|---|---|---|---|---|
| T1 | 49-64 | DiseaseOrPhenotypicFeature | denotes | phenylketonuria | D010661 |
| T2 | 76-91 | DiseaseOrPhenotypicFeature | denotes | phenylketonuria | D010661 |
| T3 | 118-125 | DiseaseOrPhenotypicFeature | denotes | disease | D004194 |
| T4 | 138-185 | DiseaseOrPhenotypicFeature | denotes | deficiency of hepatic phenylalanine hydroxylase | DISEASE |
| T5 | 606-609 | DiseaseOrPhenotypicFeature | denotes | PKU | DISEASE |
| T6 | 684-700 | DiseaseOrPhenotypicFeature | denotes | PAH deficiencies | D010661 |
LitCoin-MONDO_bioort2019
| Id | Subject | Object | Predicate | Lexical cue | #label |
|---|---|---|---|---|---|
| T1 | 49-64 | DiseaseOrPhenotypicFeature | denotes | phenylketonuria | D010661 |
| T2 | 76-91 | DiseaseOrPhenotypicFeature | denotes | phenylketonuria | D010661 |
| T3 | 98-125 | DiseaseOrPhenotypicFeature | denotes | autosomal recessive disease | EisukeAdded |
| T4 | 138-185 | DiseaseOrPhenotypicFeature | denotes | deficiency of hepatic phenylalanine hydroxylase | DISEASE |
| T5 | 606-609 | DiseaseOrPhenotypicFeature | denotes | PKU | DISEASE |
| T6 | 684-700 | DiseaseOrPhenotypicFeature | denotes | PAH deficiencies | D010661 |
LitCoin-Chemical-MeSH-CHEBI
| Id | Subject | Object | Predicate | Lexical cue | ID: |
|---|---|---|---|---|---|
| T1 | 160-185 | ChemicalEntity | denotes | phenylalanine hydroxylase | D010651 |
| T2 | 187-190 | ChemicalEntity | denotes | PAH | http://purl.obolibrary.org/obo/CHEBI_53305|http://purl.obolibrary.org/obo/CHEBI_33848|http://purl.obolibrary.org/obo/CHEBI_31204|http://purl.obolibrary.org/obo/CHEBI_104011|D010651 |
| T7 | 272-275 | ChemicalEntity | denotes | PAH | http://purl.obolibrary.org/obo/CHEBI_53305|http://purl.obolibrary.org/obo/CHEBI_33848|http://purl.obolibrary.org/obo/CHEBI_31204|http://purl.obolibrary.org/obo/CHEBI_104011|D010651 |
| T12 | 684-687 | ChemicalEntity | denotes | PAH | http://purl.obolibrary.org/obo/CHEBI_53305|http://purl.obolibrary.org/obo/CHEBI_33848|http://purl.obolibrary.org/obo/CHEBI_31204|http://purl.obolibrary.org/obo/CHEBI_104011|D010651 |
LitCoin-training-merged
| Id | Subject | Object | Predicate | Lexical cue | #label | ID: |
|---|---|---|---|---|---|---|
| T12 | 684-687 | ChemicalEntity | denotes | PAH | D010651|http://purl.obolibrary.org/obo/CHEBI_104011|http://purl.obolibrary.org/obo/CHEBI_31204|http://purl.obolibrary.org/obo/CHEBI_33848|http://purl.obolibrary.org/obo/CHEBI_53305 | |
| T7 | 272-275 | ChemicalEntity | denotes | PAH | D010651|http://purl.obolibrary.org/obo/CHEBI_104011|http://purl.obolibrary.org/obo/CHEBI_31204|http://purl.obolibrary.org/obo/CHEBI_33848|http://purl.obolibrary.org/obo/CHEBI_53305 | |
| T2 | 187-190 | ChemicalEntity | denotes | PAH | D010651|http://purl.obolibrary.org/obo/CHEBI_104011|http://purl.obolibrary.org/obo/CHEBI_31204|http://purl.obolibrary.org/obo/CHEBI_33848|http://purl.obolibrary.org/obo/CHEBI_53305 | |
| T1 | 160-185 | ChemicalEntity | denotes | phenylalanine hydroxylase | D010651 | |
| T5 | 684-687 | GeneOrGeneProduct | denotes | PAH | ||
| T4 | 357-360 | GeneOrGeneProduct | denotes | 273 | ||
| T3 | 272-275 | GeneOrGeneProduct | denotes | PAH | ||
| T67422 | 187-190 | GeneOrGeneProduct | denotes | PAH | ||
| T69534 | 160-185 | GeneOrGeneProduct | denotes | phenylalanine hydroxylase | ||
| T6 | 684-700 | DiseaseOrPhenotypicFeature | denotes | PAH deficiencies | D010661 | |
| T27351 | 606-609 | DiseaseOrPhenotypicFeature | denotes | PKU | DISEASE | |
| T94853 | 138-185 | DiseaseOrPhenotypicFeature | denotes | deficiency of hepatic phenylalanine hydroxylase | DISEASE | |
| T19330 | 98-125 | DiseaseOrPhenotypicFeature | denotes | autosomal recessive disease | EisukeAdded | |
| T75160 | 76-91 | DiseaseOrPhenotypicFeature | denotes | phenylketonuria | D010661 | |
| T13886 | 49-64 | DiseaseOrPhenotypicFeature | denotes | phenylketonuria | D010661 |
NCBIDiseaseCorpus
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 49-64 | SpecificDisease:D010661 | denotes | phenylketonuria |
| T2 | 66-91 | SpecificDisease:D010661 | denotes | Classical phenylketonuria |
| T3 | 98-125 | DiseaseClass:D030342 | denotes | autosomal recessive disease |
| T4 | 138-185 | SpecificDisease:OMIM:261600 | denotes | deficiency of hepatic phenylalanine hydroxylase |
| T5 | 606-609 | SpecificDisease:D010661 | denotes | PKU |
| T6 | 684-700 | SpecificDisease:OMIM:261600 | denotes | PAH deficiencies |
biored-valid-deepseek-nr-ng
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-3 | OrganismTaxon | denotes | Two |
| T2 | 4-12 | OrganismTaxon | denotes | distinct |
| T3 | 13-22 | SequenceVariant | denotes | mutations |
| T4 | 28-34 | OrganismTaxon | denotes | single |
| T5 | 35-40 | ChemicalEntity | denotes | BamHI |
| T6 | 41-45 | OrganismTaxon | denotes | site |
| T7 | 49-64 | DiseaseOrPhenotypicFeature | denotes | phenylketonuria |
| T8 | 64-65 | OrganismTaxon | denotes | . |
| T9 | 66-75 | OrganismTaxon | denotes | Classical |
| T10 | 90-91 | OrganismTaxon | denotes | a |
| T11 | 92-94 | OrganismTaxon | denotes | is |
| T12 | 95-97 | OrganismTaxon | denotes | an |
| T13 | 98-107 | OrganismTaxon | denotes | autosomal |
| T14 | 108-117 | OrganismTaxon | denotes | recessive |
| T15 | 118-125 | DiseaseOrPhenotypicFeature | denotes | disease |
| T16 | 126-132 | OrganismTaxon | denotes | caused |
| T17 | 133-135 | OrganismTaxon | denotes | by |
| T18 | 138-148 | DiseaseOrPhenotypicFeature | denotes | deficiency |
| T19 | 149-151 | OrganismTaxon | denotes | of |
| T20 | 152-159 | OrganismTaxon | denotes | hepatic |
| T21 | 160-173 | ChemicalEntity | denotes | phenylalanine |
| T22 | 174-185 | GeneOrGeneProduct | denotes | hydroxylase |
| T23 | 186-191 | GeneOrGeneProduct | denotes | (PAH) |
| T24 | 191-192 | OrganismTaxon | denotes | . |
| T25 | 193-196 | OrganismTaxon | denotes | The |
| T26 | 197-206 | OrganismTaxon | denotes | abolition |
| T27 | 207-209 | OrganismTaxon | denotes | of |
| T28 | 210-212 | OrganismTaxon | denotes | an |
| T29 | 213-222 | OrganismTaxon | denotes | invariant |
| T30 | 223-228 | ChemicalEntity | denotes | BamHI |
| T31 | 229-233 | OrganismTaxon | denotes | site |
| T32 | 234-241 | OrganismTaxon | denotes | located |
| T33 | 245-248 | OrganismTaxon | denotes | the |
| T34 | 249-255 | OrganismTaxon | denotes | coding |
| T35 | 256-264 | OrganismTaxon | denotes | sequence |
| T36 | 265-267 | OrganismTaxon | denotes | of |
| T37 | 272-275 | GeneOrGeneProduct | denotes | PAH |
| T38 | 276-280 | GeneOrGeneProduct | denotes | gene |
| T39 | 281-286 | OrganismTaxon | denotes | (exon |
| T40 | 287-288 | OrganismTaxon | denotes | 7 |
| T41 | 288-289 | OrganismTaxon | denotes | ) |
| T42 | 290-293 | OrganismTaxon | denotes | led |
| T43 | 294-296 | OrganismTaxon | denotes | to |
| T44 | 297-300 | OrganismTaxon | denotes | the |
| T45 | 301-312 | OrganismTaxon | denotes | recognition |
| T46 | 313-315 | OrganismTaxon | denotes | of |
| T47 | 316-319 | OrganismTaxon | denotes | two |
| T48 | 320-323 | OrganismTaxon | denotes | new |
| T49 | 324-329 | OrganismTaxon | denotes | point |
| T50 | 330-339 | SequenceVariant | denotes | mutations |
| T51 | 343-348 | OrganismTaxon | denotes | codon |
| T52 | 349-352 | OrganismTaxon | denotes | 272 |
| T53 | 353-356 | OrganismTaxon | denotes | and |
| T54 | 357-360 | OrganismTaxon | denotes | 273 |
| T55 | 361-368 | SequenceVariant | denotes | (272gly |
| T56 | 368-376 | SequenceVariant | denotes | ----stop |
| T57 | 381-387 | SequenceVariant | denotes | 273ser |
| T58 | 387-394 | SequenceVariant | denotes | ----phe |
| T59 | 394-395 | OrganismTaxon | denotes | , |
| T60 | 396-408 | OrganismTaxon | denotes | respectively |
| T61 | 408-409 | OrganismTaxon | denotes | ) |
| T62 | 409-410 | OrganismTaxon | denotes | . |
| T63 | 411-415 | OrganismTaxon | denotes | Both |
| T64 | 416-425 | SequenceVariant | denotes | mutations |
| T65 | 426-430 | OrganismTaxon | denotes | were |
| T66 | 431-439 | OrganismTaxon | denotes | detected |
| T67 | 440-442 | OrganismTaxon | denotes | in |
| T68 | 443-448 | OrganismTaxon | denotes | north |
| T69 | 449-456 | OrganismTaxon | denotes | eastern |
| T70 | 457-463 | OrganismTaxon | denotes | France |
| T71 | 467-474 | OrganismTaxon | denotes | Belgium |
| T72 | 475-478 | OrganismTaxon | denotes | and |
| T73 | 479-487 | OrganismTaxon | denotes | occurred |
| T74 | 488-490 | OrganismTaxon | denotes | on |
| T75 | 491-494 | OrganismTaxon | denotes | the |
| T76 | 495-505 | OrganismTaxon | denotes | background |
| T77 | 506-508 | OrganismTaxon | denotes | of |
| T78 | 509-513 | ChemicalEntity | denotes | RFLP |
| T79 | 514-523 | OrganismTaxon | denotes | haplotype |
| T80 | 524-525 | OrganismTaxon | denotes | 7 |
| T81 | 526-533 | OrganismTaxon | denotes | alleles |
| T82 | 533-534 | OrganismTaxon | denotes | . |
| T83 | 535-538 | OrganismTaxon | denotes | The |
| T84 | 539-546 | OrganismTaxon | denotes | present |
| T85 | 547-552 | OrganismTaxon | denotes | study |
| T86 | 553-561 | OrganismTaxon | denotes | supports |
| T87 | 562-565 | OrganismTaxon | denotes | the |
| T88 | 566-570 | OrganismTaxon | denotes | view |
| T89 | 571-575 | OrganismTaxon | denotes | that |
| T90 | 580-588 | OrganismTaxon | denotes | clinical |
| T91 | 589-602 | OrganismTaxon | denotes | heterogeneity |
| T92 | 606-609 | DiseaseOrPhenotypicFeature | denotes | PKU |
| T93 | 610-612 | OrganismTaxon | denotes | is |
| T94 | 613-622 | OrganismTaxon | denotes | accounted |
| T95 | 623-626 | OrganismTaxon | denotes | for |
| T96 | 627-629 | OrganismTaxon | denotes | by |
| T97 | 630-633 | OrganismTaxon | denotes | the |
| T98 | 634-639 | OrganismTaxon | denotes | large |
| T99 | 640-647 | OrganismTaxon | denotes | variety |
| T100 | 648-650 | OrganismTaxon | denotes | of |
| T101 | 651-657 | OrganismTaxon | denotes | mutant |
| T102 | 658-667 | OrganismTaxon | denotes | genotypes |
| T103 | 668-678 | OrganismTaxon | denotes | associated |
| T104 | 679-683 | OrganismTaxon | denotes | with |
| T105 | 684-687 | GeneOrGeneProduct | denotes | PAH |
| T106 | 688-700 | DiseaseOrPhenotypicFeature | denotes | deficiencies |
| T107 | 700-701 | OrganismTaxon | denotes | . |
biored-valid
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 49-64 | DiseaseOrPhenotypicFeature | denotes | phenylketonuria |
| T2 | 66-91 | DiseaseOrPhenotypicFeature | denotes | Classical phenylketonuria |
| T3 | 98-125 | DiseaseOrPhenotypicFeature | denotes | autosomal recessive disease |
| T4 | 138-185 | DiseaseOrPhenotypicFeature | denotes | deficiency of hepatic phenylalanine hydroxylase |
| T5 | 187-190 | GeneOrGeneProduct | denotes | PAH |
| T6 | 272-275 | GeneOrGeneProduct | denotes | PAH |
| T7 | 362-376 | SequenceVariant | denotes | 272gly----stop |
| T8 | 381-394 | SequenceVariant | denotes | 273ser----phe |
| T9 | 606-609 | DiseaseOrPhenotypicFeature | denotes | PKU |
| T10 | 684-700 | DiseaseOrPhenotypicFeature | denotes | PAH deficiencies |
biored-valid-deepseek-nr-g
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 35-40 | SequenceVariant | denotes | BamHI |
| T2 | 49-64 | DiseaseOrPhenotypicFeature | denotes | phenylketonuria |
| T3 | 160-185 | GeneOrGeneProduct | denotes | phenylalanine hydroxylase |
| T4 | 187-190 | GeneOrGeneProduct | denotes | PAH |
| T5 | 223-228 | SequenceVariant | denotes | BamHI |
| T6 | 272-275 | GeneOrGeneProduct | denotes | PAH |
| T7 | 362-376 | SequenceVariant | denotes | 272gly----stop |
| T8 | 381-394 | SequenceVariant | denotes | 273ser----phe |
| T9 | 509-513 | SequenceVariant | denotes | RFLP |
| T10 | 606-609 | DiseaseOrPhenotypicFeature | denotes | PKU |
biored-valid-deepseek-r-ng
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 35-40 | SequenceVariant | denotes | BamHI |
| T2 | 49-64 | DiseaseOrPhenotypicFeature | denotes | phenylketonuria |
| T3 | 160-185 | GeneOrGeneProduct | denotes | phenylalanine hydroxylase |
| T4 | 187-190 | GeneOrGeneProduct | denotes | PAH |
| T5 | 223-228 | SequenceVariant | denotes | BamHI |
| T6 | 282-288 | GeneOrGeneProduct | denotes | exon 7 |
| T7 | 343-352 | SequenceVariant | denotes | codon 272 |
| T8 | 362-376 | SequenceVariant | denotes | 272gly----stop |
| T9 | 381-394 | SequenceVariant | denotes | 273ser----phe |
| T10 | 509-533 | SequenceVariant | denotes | RFLP haplotype 7 alleles |
| T11 | 606-609 | DiseaseOrPhenotypicFeature | denotes | PKU |
| T12 | 651-667 | SequenceVariant | denotes | mutant genotypes |
biored-valid-deepseek-r-g
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 35-40 | GeneOrGeneProduct | denotes | BamHI |
| T2 | 49-64 | DiseaseOrPhenotypicFeature | denotes | phenylketonuria |
| T3 | 160-185 | GeneOrGeneProduct | denotes | phenylalanine hydroxylase |
| T4 | 187-190 | GeneOrGeneProduct | denotes | PAH |
| T5 | 223-228 | GeneOrGeneProduct | denotes | BamHI |
| T6 | 272-275 | GeneOrGeneProduct | denotes | PAH |
| T7 | 324-339 | SequenceVariant | denotes | point mutations |
| T8 | 362-376 | SequenceVariant | denotes | 272gly----stop |
| T9 | 381-394 | SequenceVariant | denotes | 273ser----phe |
| T10 | 509-533 | SequenceVariant | denotes | RFLP haplotype 7 alleles |
| T11 | 606-609 | DiseaseOrPhenotypicFeature | denotes | PKU |
biored-valid-gemini-nr-ng
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 49-64 | DiseaseOrPhenotypicFeature | denotes | phenylketonuria |
| T2 | 152-185 | GeneOrGeneProduct | denotes | hepatic phenylalanine hydroxylase |
| T3 | 187-190 | GeneOrGeneProduct | denotes | PAH |
| T4 | 272-280 | GeneOrGeneProduct | denotes | PAH gene |
| T5 | 362-376 | SequenceVariant | denotes | 272gly----stop |
| T6 | 381-394 | SequenceVariant | denotes | 273ser----phe |
| T7 | 457-463 | OrganismTaxon | denotes | France |
| T8 | 467-474 | OrganismTaxon | denotes | Belgium |
| T9 | 606-609 | DiseaseOrPhenotypicFeature | denotes | PKU |
| T10 | 684-700 | DiseaseOrPhenotypicFeature | denotes | PAH deficiencies |
biored-valid-gemini-r-ng
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 13-22 | SequenceVariant | denotes | mutations |
| T2 | 35-40 | ChemicalEntity | denotes | BamHI |
| T3 | 49-64 | DiseaseOrPhenotypicFeature | denotes | phenylketonuria |
| T4 | 66-91 | DiseaseOrPhenotypicFeature | denotes | Classical phenylketonuria |
| T5 | 98-125 | DiseaseOrPhenotypicFeature | denotes | autosomal recessive disease |
| T6 | 138-185 | DiseaseOrPhenotypicFeature | denotes | deficiency of hepatic phenylalanine hydroxylase |
| T7 | 187-190 | GeneOrGeneProduct | denotes | PAH |
| T8 | 223-228 | ChemicalEntity | denotes | BamHI |
| T9 | 272-275 | GeneOrGeneProduct | denotes | PAH |
| T10 | 324-339 | SequenceVariant | denotes | point mutations |
| T11 | 362-376 | SequenceVariant | denotes | 272gly----stop |
| T12 | 381-394 | SequenceVariant | denotes | 273ser----phe |
| T13 | 416-425 | SequenceVariant | denotes | mutations |
| T14 | 509-525 | SequenceVariant | denotes | RFLP haplotype 7 |
| T15 | 606-609 | DiseaseOrPhenotypicFeature | denotes | PKU |
| T16 | 651-667 | SequenceVariant | denotes | mutant genotypes |
| T17 | 684-700 | DiseaseOrPhenotypicFeature | denotes | PAH deficiencies |
biored-valid-gemini-r-g
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 35-40 | GeneOrGeneProduct | denotes | BamHI |
| T2 | 49-64 | DiseaseOrPhenotypicFeature | denotes | phenylketonuria |
| T3 | 66-91 | DiseaseOrPhenotypicFeature | denotes | Classical phenylketonuria |
| T4 | 160-185 | GeneOrGeneProduct | denotes | phenylalanine hydroxylase |
| T5 | 187-190 | GeneOrGeneProduct | denotes | PAH |
| T6 | 223-228 | GeneOrGeneProduct | denotes | BamHI |
| T7 | 272-275 | GeneOrGeneProduct | denotes | PAH |
| T8 | 362-376 | SequenceVariant | denotes | 272gly----stop |
| T9 | 381-394 | SequenceVariant | denotes | 273ser----phe |
| T10 | 606-609 | DiseaseOrPhenotypicFeature | denotes | PKU |
| T11 | 684-700 | DiseaseOrPhenotypicFeature | denotes | PAH deficiencies |
biored-valid-gpt-nr-ng
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 35-40 | GeneOrGeneProduct | denotes | BamHI |
| T2 | 49-64 | DiseaseOrPhenotypicFeature | denotes | phenylketonuria |
| T3 | 160-185 | GeneOrGeneProduct | denotes | phenylalanine hydroxylase |
| T4 | 187-190 | GeneOrGeneProduct | denotes | PAH |
| T5 | 223-228 | GeneOrGeneProduct | denotes | BamHI |
| T6 | 272-275 | GeneOrGeneProduct | denotes | PAH |
| T7 | 362-376 | SequenceVariant | denotes | 272gly----stop |
| T8 | 381-394 | SequenceVariant | denotes | 273ser----phe |
| T9 | 606-609 | DiseaseOrPhenotypicFeature | denotes | PKU |
| T10 | 684-687 | GeneOrGeneProduct | denotes | PAH |
biored-valid-gpt-nr-g
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 35-40 | GeneOrGeneProduct | denotes | BamHI |
| T2 | 49-64 | DiseaseOrPhenotypicFeature | denotes | phenylketonuria |
| T3 | 160-185 | GeneOrGeneProduct | denotes | phenylalanine hydroxylase |
| T4 | 187-190 | GeneOrGeneProduct | denotes | PAH |
| T5 | 223-228 | GeneOrGeneProduct | denotes | BamHI |
| T6 | 272-280 | GeneOrGeneProduct | denotes | PAH gene |
| T7 | 362-376 | SequenceVariant | denotes | 272gly----stop |
| T8 | 381-394 | SequenceVariant | denotes | 273ser----phe |
| T9 | 606-609 | DiseaseOrPhenotypicFeature | denotes | PKU |
| T10 | 684-687 | GeneOrGeneProduct | denotes | PAH |
biored-valid-gpt-r-ng
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 35-40 | GeneOrGeneProduct | denotes | BamHI |
| T2 | 49-64 | DiseaseOrPhenotypicFeature | denotes | phenylketonuria |
| T3 | 66-91 | DiseaseOrPhenotypicFeature | denotes | Classical phenylketonuria |
| T4 | 98-125 | DiseaseOrPhenotypicFeature | denotes | autosomal recessive disease |
| T5 | 138-185 | DiseaseOrPhenotypicFeature | denotes | deficiency of hepatic phenylalanine hydroxylase |
| T6 | 187-190 | GeneOrGeneProduct | denotes | PAH |
| T7 | 223-228 | GeneOrGeneProduct | denotes | BamHI |
| T8 | 272-280 | GeneOrGeneProduct | denotes | PAH gene |
| T9 | 362-376 | SequenceVariant | denotes | 272gly----stop |
| T10 | 381-394 | SequenceVariant | denotes | 273ser----phe |
| T11 | 606-609 | DiseaseOrPhenotypicFeature | denotes | PKU |
| T12 | 684-687 | GeneOrGeneProduct | denotes | PAH |
biored-valid-gpt-r-g
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 35-40 | GeneOrGeneProduct | denotes | BamHI |
| T2 | 49-64 | DiseaseOrPhenotypicFeature | denotes | phenylketonuria |
| T3 | 66-91 | DiseaseOrPhenotypicFeature | denotes | Classical phenylketonuria |
| T4 | 138-191 | DiseaseOrPhenotypicFeature | denotes | deficiency of hepatic phenylalanine hydroxylase (PAH) |
| T5 | 223-228 | GeneOrGeneProduct | denotes | BamHI |
| T6 | 272-275 | GeneOrGeneProduct | denotes | PAH |
| T7 | 362-376 | SequenceVariant | denotes | 272gly----stop |
| T8 | 381-394 | SequenceVariant | denotes | 273ser----phe |
| T9 | 514-533 | SequenceVariant | denotes | haplotype 7 alleles |
| T10 | 606-609 | DiseaseOrPhenotypicFeature | denotes | PKU |
| T11 | 684-700 | DiseaseOrPhenotypicFeature | denotes | PAH deficiencies |
biored-valid-gemini-nr-g
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 49-64 | DiseaseOrPhenotypicFeature | denotes | phenylketonuria |
| T2 | 160-191 | GeneOrGeneProduct | denotes | phenylalanine hydroxylase (PAH) |
| T3 | 272-280 | GeneOrGeneProduct | denotes | PAH gene |
| T4 | 362-376 | SequenceVariant | denotes | 272gly----stop |
| T5 | 381-394 | SequenceVariant | denotes | 273ser----phe |
| T6 | 606-609 | DiseaseOrPhenotypicFeature | denotes | PKU |
| T7 | 684-700 | DiseaseOrPhenotypicFeature | denotes | PAH deficiencies |
biored-valid-gpt-r-m
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 35-40 | GeneOrGeneProduct | denotes | BamHI |
| T2 | 49-64 | DiseaseOrPhenotypicFeature | denotes | phenylketonuria |
| T3 | 66-91 | DiseaseOrPhenotypicFeature | denotes | Classical phenylketonuria |
| T4 | 138-185 | DiseaseOrPhenotypicFeature | denotes | deficiency of hepatic phenylalanine hydroxylase |
| T5 | 187-190 | GeneOrGeneProduct | denotes | PAH |
| T6 | 223-228 | GeneOrGeneProduct | denotes | BamHI |
| T7 | 272-275 | GeneOrGeneProduct | denotes | PAH |
| T8 | 362-376 | SequenceVariant | denotes | 272gly----stop |
| T9 | 381-394 | SequenceVariant | denotes | 273ser----phe |
| T10 | 509-533 | SequenceVariant | denotes | RFLP haplotype 7 alleles |
| T11 | 606-609 | DiseaseOrPhenotypicFeature | denotes | PKU |
| T12 | 684-700 | DiseaseOrPhenotypicFeature | denotes | PAH deficiencies |
biored-valid-gemini-r-m
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 49-64 | DiseaseOrPhenotypicFeature | denotes | phenylketonuria |
| T2 | 66-91 | DiseaseOrPhenotypicFeature | denotes | Classical phenylketonuria |
| T3 | 160-185 | GeneOrGeneProduct | denotes | phenylalanine hydroxylase |
| T4 | 187-190 | GeneOrGeneProduct | denotes | PAH |
| T5 | 362-376 | SequenceVariant | denotes | 272gly----stop |
| T6 | 381-394 | SequenceVariant | denotes | 273ser----phe |
| T7 | 509-533 | SequenceVariant | denotes | RFLP haplotype 7 alleles |
| T8 | 606-609 | DiseaseOrPhenotypicFeature | denotes | PKU |
| T9 | 684-700 | DiseaseOrPhenotypicFeature | denotes | PAH deficiencies |
biored-valid-deepseek-r-m
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 49-64 | DiseaseOrPhenotypicFeature | denotes | phenylketonuria |
| T2 | 160-185 | GeneOrGeneProduct | denotes | phenylalanine hydroxylase |
| T3 | 187-190 | GeneOrGeneProduct | denotes | PAH |
| T4 | 362-376 | SequenceVariant | denotes | 272gly----stop |
| T5 | 381-394 | SequenceVariant | denotes | 273ser----phe |
| T6 | 606-609 | DiseaseOrPhenotypicFeature | denotes | PKU |
NCBI-Disease-Train
| Id | Subject | Object | Predicate | Lexical cue | database_id |
|---|---|---|---|---|---|
| T3337 | 49-64 | SpecificDisease | denotes | phenylketonuria | D010661 |
| T3338 | 66-91 | SpecificDisease | denotes | Classical phenylketonuria | D010661 |
| T3339 | 98-125 | DiseaseClass | denotes | autosomal recessive disease | D030342 |
| T3340 | 138-185 | SpecificDisease | denotes | deficiency of hepatic phenylalanine hydroxylase | OMIM:261600 |
| T3341 | 606-609 | SpecificDisease | denotes | PKU | D010661 |
| T3342 | 684-700 | SpecificDisease | denotes | PAH deficiencies | OMIM:261600 |
NCBI-Disease-Corpus-All
| Id | Subject | Object | Predicate | Lexical cue | database_id |
|---|---|---|---|---|---|
| T3337 | 49-64 | SpecificDisease | denotes | phenylketonuria | D010661 |
| T3338 | 66-91 | SpecificDisease | denotes | Classical phenylketonuria | D010661 |
| T3339 | 98-125 | DiseaseClass | denotes | autosomal recessive disease | D030342 |
| T3340 | 138-185 | SpecificDisease | denotes | deficiency of hepatic phenylalanine hydroxylase | OMIM:261600 |
| T3341 | 606-609 | SpecificDisease | denotes | PKU | D010661 |
| T3342 | 684-700 | SpecificDisease | denotes | PAH deficiencies | OMIM:261600 |
NCBI-Disease-Corpus-2stage-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 49-64 | SpecificDisease | denotes | phenylketonuria |
| T2 | 76-91 | SpecificDisease | denotes | phenylketonuria |
| T3 | 606-609 | SpecificDisease | denotes | PKU |
NCBI-Disease-Corpus-rezarta-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 49-64 | SpecificDisease | denotes | phenylketonuria |
| T2 | 76-91 | SpecificDisease | denotes | phenylketonuria |
| T3 | 606-609 | SpecificDisease | denotes | PKU |
NCBI-Disease-Corpus-4oGuideline-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 49-64 | SpecificDisease | denotes | phenylketonuria |
| T2 | 66-91 | SpecificDisease | denotes | Classical phenylketonuria |
| T3 | 98-125 | DiseaseClass | denotes | autosomal recessive disease |
| T4 | 606-609 | SpecificDisease | denotes | PKU |
NCBI-Disease-Corpus-Simple-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 49-64 | SpecificDisease | denotes | phenylketonuria |
| T2 | 66-91 | SpecificDisease | denotes | Classical phenylketonuria |
| T3 | 118-125 | DiseaseClass | denotes | disease |
| T4 | 606-609 | SpecificDisease | denotes | PKU |