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PubMed:17549393 JSONTXT

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LitCoin-entities

Id Subject Object Predicate Lexical cue db_id
4119 8-12 GeneOrGeneProduct denotes IRF6 NCBIGene:3664
4120 32-36 SequenceVariant denotes Y67X p|SUB|Y|67|X
4121 62-84 DiseaseOrPhenotypicFeature denotes Van der Woude syndrome MESH:C536528
4122 86-108 DiseaseOrPhenotypicFeature denotes Van der Woude syndrome MESH:C536528
4123 110-113 DiseaseOrPhenotypicFeature denotes VWS MESH:C536528
4124 142-167 DiseaseOrPhenotypicFeature denotes syndromic orofacial cleft MESH:D002972
4125 212-232 DiseaseOrPhenotypicFeature denotes cleft lip and palate MESH:D002971|MESH:D002972
4126 293-301 DiseaseOrPhenotypicFeature denotes lip pits MESH:C536528
4127 303-312 DiseaseOrPhenotypicFeature denotes cleft lip MESH:D002971
4128 317-329 DiseaseOrPhenotypicFeature denotes cleft palate MESH:D002972
4129 335-345 DiseaseOrPhenotypicFeature denotes hypodontia MESH:D000848
4130 347-350 DiseaseOrPhenotypicFeature denotes VWS MESH:C536528
4131 406-436 GeneOrGeneProduct denotes interferon regulatory factor 6 NCBIGene:3664
4132 438-442 GeneOrGeneProduct denotes IRF6 NCBIGene:3664
4133 586-590 GeneOrGeneProduct denotes IRF6 NCBIGene:3664
4134 628-631 DiseaseOrPhenotypicFeature denotes VWS MESH:C536528
4135 632-640 OrganismTaxon denotes patients NCBITaxon:9606
4136 752-756 GeneOrGeneProduct denotes IRF6 NCBIGene:3664
4137 904-908 GeneOrGeneProduct denotes IRF6 NCBIGene:3664
4138 921-929 OrganismTaxon denotes patients NCBITaxon:9606
4139 972-980 SequenceVariant denotes c.201C>A c|SUB|C|201|A
4140 994-1046 SequenceVariant denotes tyrosine codon at amino acid position 67 into a stop p|SUB|Y|67|X
4141 1054-1060 SequenceVariant denotes p.Y67X p|SUB|Y|67|X
4142 1196-1200 GeneOrGeneProduct denotes Smad NCBIGene:4086
4143 1201-1229 GeneOrGeneProduct denotes interferon regulatory factor NCBIGene:3664
4144 1290-1294 GeneOrGeneProduct denotes Smad NCBIGene:4086

LitCoin-sentences

Id Subject Object Predicate Lexical cue
T1 0-85 Sentence denotes A novel IRF6 nonsense mutation (Y67X) in a German family with Van der Woude syndrome.
T2 86-239 Sentence denotes Van der Woude syndrome (VWS) is the most common type of syndromic orofacial cleft, which accounts for approximately 2% of all cleft lip and palate cases.
T3 240-346 Sentence denotes It is characterised by variable association of lower lip pits, cleft lip and cleft palate, and hypodontia.
T4 347-444 Sentence denotes VWS arises as the result of mutations in the gene encoding interferon regulatory factor 6 (IRF6).
T5 445-553 Sentence denotes The disorder is transmitted in an autosomal dominant manner, with high penetrance and variable expressivity.
T6 554-717 Sentence denotes Very recently, mutations of the IRF6 gene in exons 2-9 have been found in VWS patients, suggesting that this gene plays an important role in orofacial development.
T7 718-781 Sentence denotes We report a novel mutation of the IRF6 gene in a German family.
T8 782-847 Sentence denotes Five out of the 12 persons affected were able to be investigated.
T9 848-914 Sentence denotes The mutation produced a stop codon within exon 4 of the IRF6 gene.
T10 915-1072 Sentence denotes All 5 patients were heterozygous for a base substitution c.201C>A changing the tyrosine codon at amino acid position 67 into a stop codon (p.Y67X) in exon 4.
T11 1073-1317 Sentence denotes The premature stop codon was responsible for a truncated protein lacking parts of the DNA- binding domain and the complete Smad-interferon regulatory factor-binding domain probably essential for interactions with the Smad transcription factors.

LitCoin-entities-OrganismTaxon-PD

Id Subject Object Predicate Lexical cue db_id
T1 877-882 OrganismTaxon denotes codon NCBItxid:79338
T2 1003-1008 OrganismTaxon denotes codon NCBItxid:79338
T3 1047-1052 OrganismTaxon denotes codon NCBItxid:79338
T4 1092-1097 OrganismTaxon denotes codon NCBItxid:79338

LitCoin_Mondo

Id Subject Object Predicate Lexical cue mondo_id
T1 62-84 DiseaseOrPhenotypicFeature denotes Van der Woude syndrome 0019508
T2 86-108 DiseaseOrPhenotypicFeature denotes Van der Woude syndrome 0019508
T3 152-167 DiseaseOrPhenotypicFeature denotes orofacial cleft 0000358
T4 212-232 DiseaseOrPhenotypicFeature denotes cleft lip and palate 0016044
T5 212-221 DiseaseOrPhenotypicFeature denotes cleft lip 0004747
T6 303-312 DiseaseOrPhenotypicFeature denotes cleft lip 0004747
T7 317-329 DiseaseOrPhenotypicFeature denotes cleft palate 0016064
T8 1187-1195 DiseaseOrPhenotypicFeature denotes complete 0700063

LitCoin-SeqVar

Id Subject Object Predicate Lexical cue
T1 32-36 SequenceVariant denotes Y67X
T2 972-980 SequenceVariant denotes c.201C>A
T3 1054-1060 SequenceVariant denotes p.Y67X

LitCoin-GeneOrGeneProduct-v0

Id Subject Object Predicate Lexical cue
T1 2-7 GeneOrGeneProduct denotes novel
T2 8-12 GeneOrGeneProduct denotes IRF6
T3 22-30 GeneOrGeneProduct denotes mutation
T4 38-42 GeneOrGeneProduct denotes in a
T5 76-84 GeneOrGeneProduct denotes syndrome
T6 100-108 GeneOrGeneProduct denotes syndrome
T7 142-151 GeneOrGeneProduct denotes syndromic
T8 162-167 GeneOrGeneProduct denotes cleft
T9 188-201 GeneOrGeneProduct denotes approximately
T10 208-211 GeneOrGeneProduct denotes all
T11 212-217 GeneOrGeneProduct denotes cleft
T12 218-221 GeneOrGeneProduct denotes lip
T13 233-238 GeneOrGeneProduct denotes cases
T14 293-296 GeneOrGeneProduct denotes lip
T15 297-301 GeneOrGeneProduct denotes pits
T16 303-308 GeneOrGeneProduct denotes cleft
T17 309-312 GeneOrGeneProduct denotes lip
T18 317-322 GeneOrGeneProduct denotes cleft
T19 372-384 GeneOrGeneProduct denotes of mutations
T20 406-436 GeneOrGeneProduct denotes interferon regulatory factor 6
T21 438-442 GeneOrGeneProduct denotes IRF6
T22 511-515 GeneOrGeneProduct denotes high
T23 569-578 GeneOrGeneProduct denotes mutations
T24 586-590 GeneOrGeneProduct denotes IRF6
T25 730-735 GeneOrGeneProduct denotes novel
T26 736-744 GeneOrGeneProduct denotes mutation
T27 752-756 GeneOrGeneProduct denotes IRF6
T28 757-766 GeneOrGeneProduct denotes gene in a
T29 787-790 GeneOrGeneProduct denotes out
T30 852-860 GeneOrGeneProduct denotes mutation
T31 872-876 GeneOrGeneProduct denotes stop
T32 904-908 GeneOrGeneProduct denotes IRF6
T33 915-918 GeneOrGeneProduct denotes All
T34 954-958 GeneOrGeneProduct denotes base
T35 994-1002 GeneOrGeneProduct denotes tyrosine
T36 1012-1022 GeneOrGeneProduct denotes amino acid
T37 1042-1046 GeneOrGeneProduct denotes stop
T38 1087-1091 GeneOrGeneProduct denotes stop
T39 1120-1129 GeneOrGeneProduct denotes truncated
T40 1130-1137 GeneOrGeneProduct denotes protein
T41 1138-1145 GeneOrGeneProduct denotes lacking
T42 1146-1151 GeneOrGeneProduct denotes parts
T43 1164-1171 GeneOrGeneProduct denotes binding
T44 1196-1200 GeneOrGeneProduct denotes Smad
T45 1201-1229 GeneOrGeneProduct denotes interferon regulatory factor
T46 1230-1237 GeneOrGeneProduct denotes binding
T47 1245-1253 GeneOrGeneProduct denotes probably
T48 1290-1294 GeneOrGeneProduct denotes Smad
T49 1295-1316 GeneOrGeneProduct denotes transcription factors

LitCoin-GeneOrGeneProduct-v2

Id Subject Object Predicate Lexical cue
T1 2-7 GeneOrGeneProduct denotes novel
T2 8-12 GeneOrGeneProduct denotes IRF6
T3 76-84 GeneOrGeneProduct denotes syndrome
T4 100-108 GeneOrGeneProduct denotes syndrome
T5 162-167 GeneOrGeneProduct denotes cleft
T6 212-217 GeneOrGeneProduct denotes cleft
T7 297-301 GeneOrGeneProduct denotes pits
T8 303-308 GeneOrGeneProduct denotes cleft
T9 317-322 GeneOrGeneProduct denotes cleft
T10 406-436 GeneOrGeneProduct denotes interferon regulatory factor 6
T11 438-442 GeneOrGeneProduct denotes IRF6
T12 511-515 GeneOrGeneProduct denotes high
T13 586-590 GeneOrGeneProduct denotes IRF6
T14 730-735 GeneOrGeneProduct denotes novel
T15 752-756 GeneOrGeneProduct denotes IRF6
T16 872-876 GeneOrGeneProduct denotes stop
T17 904-908 GeneOrGeneProduct denotes IRF6
T18 994-1002 GeneOrGeneProduct denotes tyrosine
T19 1012-1022 GeneOrGeneProduct denotes amino acid
T20 1042-1046 GeneOrGeneProduct denotes stop
T21 1087-1091 GeneOrGeneProduct denotes stop
T22 1120-1129 GeneOrGeneProduct denotes truncated
T23 1130-1137 GeneOrGeneProduct denotes protein
T24 1164-1171 GeneOrGeneProduct denotes binding
T25 1196-1200 GeneOrGeneProduct denotes Smad
T26 1201-1229 GeneOrGeneProduct denotes interferon regulatory factor
T27 1230-1237 GeneOrGeneProduct denotes binding
T28 1290-1294 GeneOrGeneProduct denotes Smad
T29 1295-1316 GeneOrGeneProduct denotes transcription factors

LitCoin-Disease-MeSH

Id Subject Object Predicate Lexical cue originalLabel
T1 62-84 DiseaseOrPhenotypicFeature denotes Van der Woude syndrome C536528
T2 86-108 DiseaseOrPhenotypicFeature denotes Van der Woude syndrome C536528
T3 110-113 DiseaseOrPhenotypicFeature denotes VWS C536528
T4 142-151 DiseaseOrPhenotypicFeature denotes syndromic D013577
T5 212-221 DiseaseOrPhenotypicFeature denotes cleft lip D002971
T6 303-312 DiseaseOrPhenotypicFeature denotes cleft lip D002971
T7 317-329 DiseaseOrPhenotypicFeature denotes cleft palate D002972
T8 335-345 DiseaseOrPhenotypicFeature denotes hypodontia D000848
T9 347-350 DiseaseOrPhenotypicFeature denotes VWS C536528
T10 628-631 DiseaseOrPhenotypicFeature denotes VWS C536528

LitCoin-GeneOrGeneProduct-v3

Id Subject Object Predicate Lexical cue
T1 8-12 GeneOrGeneProduct denotes IRF6
T2 297-301 GeneOrGeneProduct denotes pits
T3 406-436 GeneOrGeneProduct denotes interferon regulatory factor 6
T4 438-442 GeneOrGeneProduct denotes IRF6
T5 586-590 GeneOrGeneProduct denotes IRF6
T6 752-756 GeneOrGeneProduct denotes IRF6
T7 904-908 GeneOrGeneProduct denotes IRF6
T8 1196-1200 GeneOrGeneProduct denotes Smad
T9 1201-1229 GeneOrGeneProduct denotes interferon regulatory factor
T10 1290-1294 GeneOrGeneProduct denotes Smad

LitCoin_Mondo_095

Id Subject Object Predicate Lexical cue mondo_id
T1 62-84 DiseaseOrPhenotypicFeature denotes Van der Woude syndrome 0019508
T2 86-108 DiseaseOrPhenotypicFeature denotes Van der Woude syndrome 0019508
T3 110-113 DiseaseOrPhenotypicFeature denotes VWS 0019508
T4 152-167 DiseaseOrPhenotypicFeature denotes orofacial cleft 0000358
T5 212-232 DiseaseOrPhenotypicFeature denotes cleft lip and palate 0016044
T6 303-312 DiseaseOrPhenotypicFeature denotes cleft lip 0004747
T7 317-329 DiseaseOrPhenotypicFeature denotes cleft palate 0016064|0007336
T9 335-345 DiseaseOrPhenotypicFeature denotes hypodontia 0005486
T10 347-350 DiseaseOrPhenotypicFeature denotes VWS 0019508
T11 628-631 DiseaseOrPhenotypicFeature denotes VWS 0019508

LitCoin-MeSH-Disease-2

Id Subject Object Predicate Lexical cue ID:
T1 62-84 DiseaseOrPhenotypicFeature denotes Van der Woude syndrome C536528
T2 86-108 DiseaseOrPhenotypicFeature denotes Van der Woude syndrome C536528
T3 110-113 DiseaseOrPhenotypicFeature denotes VWS C536528
T4 212-221 DiseaseOrPhenotypicFeature denotes cleft lip D002971
T5 293-301 DiseaseOrPhenotypicFeature denotes lip pits DISEASE
T6 303-312 DiseaseOrPhenotypicFeature denotes cleft lip D002971
T7 317-329 DiseaseOrPhenotypicFeature denotes cleft palate D002972
T8 335-345 DiseaseOrPhenotypicFeature denotes hypodontia D000848
T9 347-350 DiseaseOrPhenotypicFeature denotes VWS C536528
T10 628-631 DiseaseOrPhenotypicFeature denotes VWS C536528

LitCoin-MONDO_bioort2019

Id Subject Object Predicate Lexical cue #label
T1 62-84 DiseaseOrPhenotypicFeature denotes Van der Woude syndrome C536528
T2 86-108 DiseaseOrPhenotypicFeature denotes Van der Woude syndrome C536528
T3 110-113 DiseaseOrPhenotypicFeature denotes VWS C536528
T4 212-221 DiseaseOrPhenotypicFeature denotes cleft lip D002971
T5 293-301 DiseaseOrPhenotypicFeature denotes lip pits DISEASE
T6 303-312 DiseaseOrPhenotypicFeature denotes cleft lip D002971
T7 317-329 DiseaseOrPhenotypicFeature denotes cleft palate D002972
T8 335-345 DiseaseOrPhenotypicFeature denotes hypodontia D000848
T9 347-350 DiseaseOrPhenotypicFeature denotes VWS C536528
T10 628-631 DiseaseOrPhenotypicFeature denotes VWS C536528

LitCoin-NCBITaxon-2

Id Subject Object Predicate Lexical cue
T1 632-640 OrganismTaxon denotes patients
T2 921-929 OrganismTaxon denotes patients

LitCoin-Chemical-MeSH-CHEBI

Id Subject Object Predicate Lexical cue ID:
T1 994-1002 ChemicalEntity denotes tyrosine http://purl.obolibrary.org/obo/CHEBI_18186

LitCoin-training-merged

Id Subject Object Predicate Lexical cue #label ID:
T1 994-1002 ChemicalEntity denotes tyrosine http://purl.obolibrary.org/obo/CHEBI_18186
T10 1290-1294 GeneOrGeneProduct denotes Smad
T9 1201-1229 GeneOrGeneProduct denotes interferon regulatory factor
T8 1196-1200 GeneOrGeneProduct denotes Smad
T7 904-908 GeneOrGeneProduct denotes IRF6
T6 752-756 GeneOrGeneProduct denotes IRF6
T5 586-590 GeneOrGeneProduct denotes IRF6
T4 438-442 GeneOrGeneProduct denotes IRF6
T3 406-436 GeneOrGeneProduct denotes interferon regulatory factor 6
T2 297-301 GeneOrGeneProduct denotes pits
T92598 8-12 GeneOrGeneProduct denotes IRF6
T65728 628-631 DiseaseOrPhenotypicFeature denotes VWS C536528
T29463 347-350 DiseaseOrPhenotypicFeature denotes VWS C536528
T26969 335-345 DiseaseOrPhenotypicFeature denotes hypodontia D000848
T40498 317-329 DiseaseOrPhenotypicFeature denotes cleft palate D002972
T46446 303-312 DiseaseOrPhenotypicFeature denotes cleft lip D002971
T95424 293-301 DiseaseOrPhenotypicFeature denotes lip pits DISEASE
T81324 212-221 DiseaseOrPhenotypicFeature denotes cleft lip D002971
T73165 110-113 DiseaseOrPhenotypicFeature denotes VWS C536528
T29454 86-108 DiseaseOrPhenotypicFeature denotes Van der Woude syndrome C536528
T89410 62-84 DiseaseOrPhenotypicFeature denotes Van der Woude syndrome C536528
T26449 921-929 OrganismTaxon denotes patients
T52365 632-640 OrganismTaxon denotes patients
T94395 1054-1060 SequenceVariant denotes p.Y67X
T38444 972-980 SequenceVariant denotes c.201C>A
T61975 32-36 SequenceVariant denotes Y67X

DisGeNET

Id Subject Object Predicate Lexical cue
T0 8-12 gene:3664 denotes IRF6
T1 62-84 disease:C0175697 denotes Van der Woude syndrome
R1 T0 T1 associated_with IRF6,Van der Woude syndrome

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 287-301 HP_0000196 denotes lower lip pits
T2 293-301 HP_0100267 denotes lip pits
T3 303-329 HP_0000175 denotes cleft lip and cleft palate
T4 317-329 HP_0000175 denotes cleft palate
T5 335-345 HP_0000668 denotes hypodontia
T6 479-497 HP_0000006 denotes autosomal dominant
T1 287-301 HP_0000196 denotes lower lip pits
T2 293-301 HP_0100267 denotes lip pits
T3 303-329 HP_0000175 denotes cleft lip and cleft palate
T4 317-329 HP_0000175 denotes cleft palate
T5 335-345 HP_0000668 denotes hypodontia
T6 479-497 HP_0000006 denotes autosomal dominant

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
17549393-0#8#12#gene3664 8-12 gene3664 denotes IRF6
17549393-0#62#84#diseaseC0175697 62-84 diseaseC0175697 denotes Van der Woude syndrome
8#12#gene366462#84#diseaseC0175697 17549393-0#8#12#gene3664 17549393-0#62#84#diseaseC0175697 associated_with IRF6,Van der Woude syndrome

tmVarCorpus

Id Subject Object Predicate Lexical cue
T1 32-36 ProteinMutation:p|SUB|Y|67|X denotes Y67X
T2 972-980 DNAMutation:c|SUB|C|201|A denotes c.201C>A
T3 1054-1060 ProteinMutation:p|SUB|Y|67|X denotes p.Y67X

biored-valid-deepseek-nr-ng

Id Subject Object Predicate Lexical cue
T1 8-12 GeneOrGeneProduct denotes IRF6
T2 32-36 SequenceVariant denotes Y67X
T3 62-84 DiseaseOrPhenotypicFeature denotes Van der Woude syndrome
T4 110-113 DiseaseOrPhenotypicFeature denotes VWS
T5 438-442 GeneOrGeneProduct denotes IRF6
T6 586-590 GeneOrGeneProduct denotes IRF6
T7 1056-1060 SequenceVariant denotes Y67X

biored-valid

Id Subject Object Predicate Lexical cue
T1 8-12 GeneOrGeneProduct denotes IRF6
T2 32-36 SequenceVariant denotes Y67X
T3 62-84 DiseaseOrPhenotypicFeature denotes Van der Woude syndrome
T4 86-108 DiseaseOrPhenotypicFeature denotes Van der Woude syndrome
T5 110-113 DiseaseOrPhenotypicFeature denotes VWS
T6 142-167 DiseaseOrPhenotypicFeature denotes syndromic orofacial cleft
T7 212-232 DiseaseOrPhenotypicFeature denotes cleft lip and palate
T8 293-301 DiseaseOrPhenotypicFeature denotes lip pits
T9 303-312 DiseaseOrPhenotypicFeature denotes cleft lip
T10 317-329 DiseaseOrPhenotypicFeature denotes cleft palate
T11 335-345 DiseaseOrPhenotypicFeature denotes hypodontia
T12 347-350 DiseaseOrPhenotypicFeature denotes VWS
T13 406-436 GeneOrGeneProduct denotes interferon regulatory factor 6
T14 438-442 GeneOrGeneProduct denotes IRF6
T15 586-590 GeneOrGeneProduct denotes IRF6
T16 628-631 DiseaseOrPhenotypicFeature denotes VWS
T17 632-640 OrganismTaxon denotes patients
T18 752-756 GeneOrGeneProduct denotes IRF6
T19 904-908 GeneOrGeneProduct denotes IRF6
T20 921-929 OrganismTaxon denotes patients
T21 972-980 SequenceVariant denotes c.201C>A
T22 994-1046 SequenceVariant denotes tyrosine codon at amino acid position 67 into a stop
T23 1054-1060 SequenceVariant denotes p.Y67X
T24 1196-1200 GeneOrGeneProduct denotes Smad
T25 1201-1229 GeneOrGeneProduct denotes interferon regulatory factor
T26 1290-1294 GeneOrGeneProduct denotes Smad

biored-valid-deepseek-nr-g

Id Subject Object Predicate Lexical cue
T1 8-12 GeneOrGeneProduct denotes IRF6
T2 13-37 SequenceVariant denotes nonsense mutation (Y67X)
T3 62-84 DiseaseOrPhenotypicFeature denotes Van der Woude syndrome
T4 110-113 DiseaseOrPhenotypicFeature denotes VWS
T5 212-232 DiseaseOrPhenotypicFeature denotes cleft lip and palate
T6 287-301 DiseaseOrPhenotypicFeature denotes lower lip pits
T7 303-312 DiseaseOrPhenotypicFeature denotes cleft lip
T8 317-329 DiseaseOrPhenotypicFeature denotes cleft palate
T9 335-345 DiseaseOrPhenotypicFeature denotes hypodontia
T10 347-350 DiseaseOrPhenotypicFeature denotes VWS
T11 438-442 GeneOrGeneProduct denotes IRF6
T12 586-590 GeneOrGeneProduct denotes IRF6
T13 972-980 SequenceVariant denotes c.201C>A
T14 1054-1060 SequenceVariant denotes p.Y67X

biored-valid-deepseek-r-ng

Id Subject Object Predicate Lexical cue
T1 8-12 GeneOrGeneProduct denotes IRF6
T2 32-36 SequenceVariant denotes Y67X
T3 62-84 DiseaseOrPhenotypicFeature denotes Van der Woude syndrome
T4 110-113 DiseaseOrPhenotypicFeature denotes VWS
T5 212-221 DiseaseOrPhenotypicFeature denotes cleft lip
T6 317-329 DiseaseOrPhenotypicFeature denotes cleft palate
T7 335-345 DiseaseOrPhenotypicFeature denotes hypodontia

biored-valid-deepseek-r-g

Id Subject Object Predicate Lexical cue
T1 8-12 GeneOrGeneProduct denotes IRF6
T2 32-36 SequenceVariant denotes Y67X
T3 62-84 DiseaseOrPhenotypicFeature denotes Van der Woude syndrome
T4 110-113 DiseaseOrPhenotypicFeature denotes VWS
T5 152-167 DiseaseOrPhenotypicFeature denotes orofacial cleft
T6 212-221 DiseaseOrPhenotypicFeature denotes cleft lip
T7 317-329 DiseaseOrPhenotypicFeature denotes cleft palate
T8 335-345 DiseaseOrPhenotypicFeature denotes hypodontia
T9 406-436 GeneOrGeneProduct denotes interferon regulatory factor 6
T10 438-442 GeneOrGeneProduct denotes IRF6
T11 586-595 GeneOrGeneProduct denotes IRF6 gene
T12 972-980 SequenceVariant denotes c.201C>A
T13 1054-1060 SequenceVariant denotes p.Y67X
T14 1196-1200 GeneOrGeneProduct denotes Smad

biored-valid-gemini-nr-ng

Id Subject Object Predicate Lexical cue
T1 8-12 GeneOrGeneProduct denotes IRF6
T2 32-36 SequenceVariant denotes Y67X
T3 43-49 OrganismTaxon denotes German
T4 62-84 DiseaseOrPhenotypicFeature denotes Van der Woude syndrome
T5 110-113 DiseaseOrPhenotypicFeature denotes VWS
T6 142-161 DiseaseOrPhenotypicFeature denotes syndromic orofacial
T7 162-167 DiseaseOrPhenotypicFeature denotes cleft
T8 212-232 DiseaseOrPhenotypicFeature denotes cleft lip and palate
T9 287-301 DiseaseOrPhenotypicFeature denotes lower lip pits
T10 303-312 DiseaseOrPhenotypicFeature denotes cleft lip
T11 317-329 DiseaseOrPhenotypicFeature denotes cleft palate
T12 335-345 DiseaseOrPhenotypicFeature denotes hypodontia
T13 347-350 DiseaseOrPhenotypicFeature denotes VWS
T14 406-436 GeneOrGeneProduct denotes interferon regulatory factor 6
T15 438-442 GeneOrGeneProduct denotes IRF6
T16 586-590 GeneOrGeneProduct denotes IRF6
T17 628-631 DiseaseOrPhenotypicFeature denotes VWS
T18 752-756 GeneOrGeneProduct denotes IRF6
T19 767-773 OrganismTaxon denotes German
T20 972-980 SequenceVariant denotes c.201C>A
T21 994-1002 ChemicalEntity denotes tyrosine
T22 1054-1060 SequenceVariant denotes p.Y67X
T23 1159-1162 ChemicalEntity denotes DNA
T24 1196-1200 GeneOrGeneProduct denotes Smad
T25 1201-1244 GeneOrGeneProduct denotes interferon regulatory factor-binding domain
T26 1295-1316 GeneOrGeneProduct denotes transcription factors

biored-valid-gemini-r-g

Id Subject Object Predicate Lexical cue
T1 8-12 GeneOrGeneProduct denotes IRF6
T2 13-30 SequenceVariant denotes nonsense mutation
T3 32-36 SequenceVariant denotes Y67X
T4 62-84 DiseaseOrPhenotypicFeature denotes Van der Woude syndrome
T5 110-113 DiseaseOrPhenotypicFeature denotes VWS
T6 142-167 DiseaseOrPhenotypicFeature denotes syndromic orofacial cleft
T7 212-232 DiseaseOrPhenotypicFeature denotes cleft lip and palate
T8 287-301 DiseaseOrPhenotypicFeature denotes lower lip pits
T9 303-312 DiseaseOrPhenotypicFeature denotes cleft lip
T10 317-329 DiseaseOrPhenotypicFeature denotes cleft palate
T11 335-345 DiseaseOrPhenotypicFeature denotes hypodontia
T12 347-350 DiseaseOrPhenotypicFeature denotes VWS
T13 406-436 GeneOrGeneProduct denotes interferon regulatory factor 6
T14 438-442 GeneOrGeneProduct denotes IRF6
T15 479-497 DiseaseOrPhenotypicFeature denotes autosomal dominant
T16 586-590 GeneOrGeneProduct denotes IRF6
T17 628-631 DiseaseOrPhenotypicFeature denotes VWS
T18 752-756 GeneOrGeneProduct denotes IRF6
T19 972-980 SequenceVariant denotes c.201C>A
T20 1054-1060 SequenceVariant denotes p.Y67X
T21 1290-1316 GeneOrGeneProduct denotes Smad transcription factors

biored-valid-gemini-r-ng

Id Subject Object Predicate Lexical cue
T1 8-12 GeneOrGeneProduct denotes IRF6
T2 32-36 SequenceVariant denotes Y67X
T3 43-49 OrganismTaxon denotes German
T4 62-84 DiseaseOrPhenotypicFeature denotes Van der Woude syndrome
T5 110-113 DiseaseOrPhenotypicFeature denotes VWS
T6 142-167 DiseaseOrPhenotypicFeature denotes syndromic orofacial cleft
T7 212-232 DiseaseOrPhenotypicFeature denotes cleft lip and palate
T8 287-301 DiseaseOrPhenotypicFeature denotes lower lip pits
T9 303-312 DiseaseOrPhenotypicFeature denotes cleft lip
T10 317-329 DiseaseOrPhenotypicFeature denotes cleft palate
T11 335-345 DiseaseOrPhenotypicFeature denotes hypodontia
T12 347-350 DiseaseOrPhenotypicFeature denotes VWS
T13 406-436 GeneOrGeneProduct denotes interferon regulatory factor 6
T14 438-442 GeneOrGeneProduct denotes IRF6
T15 586-595 GeneOrGeneProduct denotes IRF6 gene
T16 628-631 DiseaseOrPhenotypicFeature denotes VWS
T17 752-761 GeneOrGeneProduct denotes IRF6 gene
T18 767-773 OrganismTaxon denotes German
T19 872-882 SequenceVariant denotes stop codon
T20 972-980 SequenceVariant denotes c.201C>A
T21 994-1002 ChemicalEntity denotes tyrosine
T22 1054-1060 SequenceVariant denotes p.Y67X
T23 1077-1097 SequenceVariant denotes premature stop codon
T24 1120-1137 GeneOrGeneProduct denotes truncated protein
T25 1159-1178 GeneOrGeneProduct denotes DNA- binding domain
T26 1196-1244 GeneOrGeneProduct denotes Smad-interferon regulatory factor-binding domain
T27 1290-1316 GeneOrGeneProduct denotes Smad transcription factors

biored-valid-gpt-nr-ng

Id Subject Object Predicate Lexical cue
T1 8-12 GeneOrGeneProduct denotes IRF6
T2 32-36 SequenceVariant denotes Y67X
T3 62-84 DiseaseOrPhenotypicFeature denotes Van der Woude syndrome
T4 110-113 DiseaseOrPhenotypicFeature denotes VWS
T5 152-167 DiseaseOrPhenotypicFeature denotes orofacial cleft
T6 212-221 DiseaseOrPhenotypicFeature denotes cleft lip
T7 287-301 DiseaseOrPhenotypicFeature denotes lower lip pits
T8 303-312 DiseaseOrPhenotypicFeature denotes cleft lip
T9 317-329 DiseaseOrPhenotypicFeature denotes cleft palate
T10 335-345 DiseaseOrPhenotypicFeature denotes hypodontia
T11 347-350 DiseaseOrPhenotypicFeature denotes VWS
T12 406-436 GeneOrGeneProduct denotes interferon regulatory factor 6
T13 438-442 GeneOrGeneProduct denotes IRF6
T14 586-590 GeneOrGeneProduct denotes IRF6
T15 628-631 DiseaseOrPhenotypicFeature denotes VWS
T16 752-756 GeneOrGeneProduct denotes IRF6
T17 904-908 GeneOrGeneProduct denotes IRF6
T18 972-980 SequenceVariant denotes c.201C>A
T19 994-1002 ChemicalEntity denotes tyrosine
T20 1054-1060 SequenceVariant denotes p.Y67X
T21 1159-1162 ChemicalEntity denotes DNA
T22 1196-1200 GeneOrGeneProduct denotes Smad
T23 1290-1316 GeneOrGeneProduct denotes Smad transcription factors

biored-valid-gpt-r-ng

Id Subject Object Predicate Lexical cue
T1 8-12 GeneOrGeneProduct denotes IRF6
T2 13-30 SequenceVariant denotes nonsense mutation
T3 32-36 SequenceVariant denotes Y67X
T4 62-84 DiseaseOrPhenotypicFeature denotes Van der Woude syndrome
T5 110-113 DiseaseOrPhenotypicFeature denotes VWS
T6 152-167 DiseaseOrPhenotypicFeature denotes orofacial cleft
T7 212-221 DiseaseOrPhenotypicFeature denotes cleft lip
T8 287-301 DiseaseOrPhenotypicFeature denotes lower lip pits
T9 303-312 DiseaseOrPhenotypicFeature denotes cleft lip
T10 317-329 DiseaseOrPhenotypicFeature denotes cleft palate
T11 335-345 DiseaseOrPhenotypicFeature denotes hypodontia
T12 347-350 DiseaseOrPhenotypicFeature denotes VWS
T13 406-436 GeneOrGeneProduct denotes interferon regulatory factor 6
T14 438-442 GeneOrGeneProduct denotes IRF6
T15 479-497 DiseaseOrPhenotypicFeature denotes autosomal dominant
T16 511-526 DiseaseOrPhenotypicFeature denotes high penetrance
T17 531-552 DiseaseOrPhenotypicFeature denotes variable expressivity
T18 586-590 GeneOrGeneProduct denotes IRF6
T19 628-631 DiseaseOrPhenotypicFeature denotes VWS
T20 752-756 GeneOrGeneProduct denotes IRF6
T21 904-908 GeneOrGeneProduct denotes IRF6
T22 972-980 SequenceVariant denotes c.201C>A
T23 994-1002 ChemicalEntity denotes tyrosine
T24 1054-1060 SequenceVariant denotes p.Y67X
T25 1159-1162 ChemicalEntity denotes DNA
T26 1290-1316 GeneOrGeneProduct denotes Smad transcription factors

biored-valid-gpt-r-g

Id Subject Object Predicate Lexical cue
T1 8-12 GeneOrGeneProduct denotes IRF6
T2 32-36 SequenceVariant denotes Y67X
T3 62-84 DiseaseOrPhenotypicFeature denotes Van der Woude syndrome
T4 110-113 DiseaseOrPhenotypicFeature denotes VWS
T5 152-167 DiseaseOrPhenotypicFeature denotes orofacial cleft
T6 212-232 DiseaseOrPhenotypicFeature denotes cleft lip and palate
T7 287-301 DiseaseOrPhenotypicFeature denotes lower lip pits
T8 303-312 DiseaseOrPhenotypicFeature denotes cleft lip
T9 317-329 DiseaseOrPhenotypicFeature denotes cleft palate
T10 335-345 DiseaseOrPhenotypicFeature denotes hypodontia
T11 347-350 DiseaseOrPhenotypicFeature denotes VWS
T12 406-436 GeneOrGeneProduct denotes interferon regulatory factor 6
T13 438-442 GeneOrGeneProduct denotes IRF6
T14 586-595 GeneOrGeneProduct denotes IRF6 gene
T15 628-631 DiseaseOrPhenotypicFeature denotes VWS
T16 752-761 GeneOrGeneProduct denotes IRF6 gene
T17 904-913 GeneOrGeneProduct denotes IRF6 gene
T18 972-980 SequenceVariant denotes c.201C>A
T19 1054-1060 SequenceVariant denotes p.Y67X
T20 1290-1316 GeneOrGeneProduct denotes Smad transcription factors

biored-valid-gpt-nr-g

Id Subject Object Predicate Lexical cue
T1 8-12 GeneOrGeneProduct denotes IRF6
T2 31-37 SequenceVariant denotes (Y67X)
T3 62-84 DiseaseOrPhenotypicFeature denotes Van der Woude syndrome
T4 109-114 DiseaseOrPhenotypicFeature denotes (VWS)
T5 142-167 DiseaseOrPhenotypicFeature denotes syndromic orofacial cleft
T6 212-221 DiseaseOrPhenotypicFeature denotes cleft lip
T7 287-301 DiseaseOrPhenotypicFeature denotes lower lip pits
T8 303-312 DiseaseOrPhenotypicFeature denotes cleft lip
T9 317-329 DiseaseOrPhenotypicFeature denotes cleft palate
T10 335-345 DiseaseOrPhenotypicFeature denotes hypodontia
T11 347-350 DiseaseOrPhenotypicFeature denotes VWS
T12 406-436 GeneOrGeneProduct denotes interferon regulatory factor 6
T13 437-443 GeneOrGeneProduct denotes (IRF6)
T14 586-590 GeneOrGeneProduct denotes IRF6
T15 628-631 DiseaseOrPhenotypicFeature denotes VWS
T16 752-756 GeneOrGeneProduct denotes IRF6
T17 904-908 GeneOrGeneProduct denotes IRF6
T18 972-980 SequenceVariant denotes c.201C>A
T19 1053-1061 SequenceVariant denotes (p.Y67X)
T20 1290-1316 GeneOrGeneProduct denotes Smad transcription factors

biored-valid-gemini-nr-g

Id Subject Object Predicate Lexical cue
T1 8-12 GeneOrGeneProduct denotes IRF6
T2 13-30 SequenceVariant denotes nonsense mutation
T3 32-36 SequenceVariant denotes Y67X
T4 62-84 DiseaseOrPhenotypicFeature denotes Van der Woude syndrome
T5 110-113 DiseaseOrPhenotypicFeature denotes VWS
T6 152-167 DiseaseOrPhenotypicFeature denotes orofacial cleft
T7 212-221 DiseaseOrPhenotypicFeature denotes cleft lip
T8 226-232 DiseaseOrPhenotypicFeature denotes palate
T9 293-301 DiseaseOrPhenotypicFeature denotes lip pits
T10 303-312 DiseaseOrPhenotypicFeature denotes cleft lip
T11 317-329 DiseaseOrPhenotypicFeature denotes cleft palate
T12 335-345 DiseaseOrPhenotypicFeature denotes hypodontia
T13 347-350 DiseaseOrPhenotypicFeature denotes VWS
T14 406-443 GeneOrGeneProduct denotes interferon regulatory factor 6 (IRF6)
T15 586-590 GeneOrGeneProduct denotes IRF6
T16 628-631 DiseaseOrPhenotypicFeature denotes VWS
T17 752-756 GeneOrGeneProduct denotes IRF6
T18 1054-1060 SequenceVariant denotes p.Y67X
T19 1077-1097 SequenceVariant denotes premature stop codon
T20 1120-1137 GeneOrGeneProduct denotes truncated protein
T21 1159-1178 GeneOrGeneProduct denotes DNA- binding domain
T22 1196-1237 GeneOrGeneProduct denotes Smad-interferon regulatory factor-binding
T23 1290-1316 GeneOrGeneProduct denotes Smad transcription factors

biored-valid-gpt-r-m

Id Subject Object Predicate Lexical cue
T1 8-12 GeneOrGeneProduct denotes IRF6
T2 32-36 SequenceVariant denotes Y67X
T3 62-84 DiseaseOrPhenotypicFeature denotes Van der Woude syndrome
T4 110-113 DiseaseOrPhenotypicFeature denotes VWS
T5 152-167 DiseaseOrPhenotypicFeature denotes orofacial cleft
T6 212-232 DiseaseOrPhenotypicFeature denotes cleft lip and palate
T7 233-238 OrganismTaxon denotes cases
T8 287-301 DiseaseOrPhenotypicFeature denotes lower lip pits
T9 303-312 DiseaseOrPhenotypicFeature denotes cleft lip
T10 317-329 DiseaseOrPhenotypicFeature denotes cleft palate
T11 335-345 DiseaseOrPhenotypicFeature denotes hypodontia
T12 347-350 DiseaseOrPhenotypicFeature denotes VWS
T13 406-436 GeneOrGeneProduct denotes interferon regulatory factor 6
T14 438-442 GeneOrGeneProduct denotes IRF6
T15 586-590 GeneOrGeneProduct denotes IRF6
T16 628-631 DiseaseOrPhenotypicFeature denotes VWS
T17 632-640 OrganismTaxon denotes patients
T18 752-756 GeneOrGeneProduct denotes IRF6
T19 801-808 OrganismTaxon denotes persons
T20 904-908 GeneOrGeneProduct denotes IRF6
T21 921-929 OrganismTaxon denotes patients
T22 972-980 SequenceVariant denotes c.201C>A
T23 1054-1060 SequenceVariant denotes p.Y67X
T24 1290-1294 GeneOrGeneProduct denotes Smad

biored-valid-gemini-r-m

Id Subject Object Predicate Lexical cue
T1 8-12 GeneOrGeneProduct denotes IRF6
T2 13-30 SequenceVariant denotes nonsense mutation
T3 32-36 SequenceVariant denotes Y67X
T4 62-84 DiseaseOrPhenotypicFeature denotes Van der Woude syndrome
T5 110-113 DiseaseOrPhenotypicFeature denotes VWS
T6 142-167 DiseaseOrPhenotypicFeature denotes syndromic orofacial cleft
T7 212-232 DiseaseOrPhenotypicFeature denotes cleft lip and palate
T8 287-301 DiseaseOrPhenotypicFeature denotes lower lip pits
T9 303-312 DiseaseOrPhenotypicFeature denotes cleft lip
T10 317-329 DiseaseOrPhenotypicFeature denotes cleft palate
T11 335-345 DiseaseOrPhenotypicFeature denotes hypodontia
T12 347-350 DiseaseOrPhenotypicFeature denotes VWS
T13 406-436 GeneOrGeneProduct denotes interferon regulatory factor 6
T14 438-442 GeneOrGeneProduct denotes IRF6
T15 479-497 DiseaseOrPhenotypicFeature denotes autosomal dominant
T16 586-590 GeneOrGeneProduct denotes IRF6
T17 632-640 OrganismTaxon denotes patients
T18 801-808 OrganismTaxon denotes persons
T19 872-882 SequenceVariant denotes stop codon
T20 954-971 SequenceVariant denotes base substitution
T21 972-980 SequenceVariant denotes c.201C>A
T22 1054-1060 SequenceVariant denotes p.Y67X
T23 1077-1097 SequenceVariant denotes premature stop codon
T24 1120-1137 DiseaseOrPhenotypicFeature denotes truncated protein
T25 1159-1178 GeneOrGeneProduct denotes DNA- binding domain
T26 1196-1244 GeneOrGeneProduct denotes Smad-interferon regulatory factor-binding domain
T27 1290-1316 GeneOrGeneProduct denotes Smad transcription factors

biored-valid-deepseek-r-m

Id Subject Object Predicate Lexical cue
T1 8-12 GeneOrGeneProduct denotes IRF6
T2 32-36 SequenceVariant denotes Y67X
T3 62-84 DiseaseOrPhenotypicFeature denotes Van der Woude syndrome
T4 110-113 DiseaseOrPhenotypicFeature denotes VWS
T5 152-167 DiseaseOrPhenotypicFeature denotes orofacial cleft
T6 212-221 DiseaseOrPhenotypicFeature denotes cleft lip
T7 287-301 DiseaseOrPhenotypicFeature denotes lower lip pits
T8 317-329 DiseaseOrPhenotypicFeature denotes cleft palate
T9 335-345 DiseaseOrPhenotypicFeature denotes hypodontia
T10 347-350 DiseaseOrPhenotypicFeature denotes VWS
T11 406-436 GeneOrGeneProduct denotes interferon regulatory factor 6
T12 438-442 GeneOrGeneProduct denotes IRF6
T13 586-590 GeneOrGeneProduct denotes IRF6
T14 972-980 SequenceVariant denotes c.201C>A
T15 1054-1060 SequenceVariant denotes p.Y67X
T16 1290-1316 GeneOrGeneProduct denotes Smad transcription factors