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PubMed:15041272 JSONTXT

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TEST-DiseaseOrPhenotypicFeature

Id Subject Object Predicate Lexical cue #label
T1 36-66 DiseaseOrPhenotypicFeature denotes type 2B von Willebrand disease D056728
T2 114-128 DiseaseOrPhenotypicFeature denotes genetic defect DISEASE
T3 156-186 DiseaseOrPhenotypicFeature denotes type 2B von Willebrand disease D056728
T4 188-191 DiseaseOrPhenotypicFeature denotes VWD D014842
T5 352-361 DiseaseOrPhenotypicFeature denotes bleedings D006470
T6 446-454 DiseaseOrPhenotypicFeature denotes bleeding D006470
T7 1420-1436 DiseaseOrPhenotypicFeature denotes thrombocytopenia D013921
T8 1479-1482 DiseaseOrPhenotypicFeature denotes VWD D014842

TEST-ChemicalEntity

Id Subject Object Predicate Lexical cue ID:
T1 401-404 ChemicalEntity denotes PTT http://purl.obolibrary.org/obo/CHEBI_3088
T2 557-567 ChemicalEntity denotes ristocetin http://purl.obolibrary.org/obo/CHEBI_85129
T3 593-603 ChemicalEntity denotes ristocetin http://purl.obolibrary.org/obo/CHEBI_85129
T4 664-674 ChemicalEntity denotes ristocetin http://purl.obolibrary.org/obo/CHEBI_85129
T5 731-741 ChemicalEntity denotes ristocetin http://purl.obolibrary.org/obo/CHEBI_85129
T6 1211-1214 ChemicalEntity denotes Arg http://purl.obolibrary.org/obo/CHEBI_29952|http://purl.obolibrary.org/obo/CHEBI_16467
T8 1220-1223 ChemicalEntity denotes Trp http://purl.obolibrary.org/obo/CHEBI_29954|http://purl.obolibrary.org/obo/CHEBI_27897|http://purl.obolibrary.org/obo/CHEBI_16828

TEST-OrganismTaxon

Id Subject Object Predicate Lexical cue
T1 233-242 OrganismTaxon denotes old woman

Test-SequenceVariant

Id Subject Object Predicate Lexical cue
T1 72-78 SequenceVariant denotes R1306W
T2 1211-1223 SequenceVariant denotes Arg 1306 Trp
T3 1225-1231 SequenceVariant denotes R1306W
T4 1522-1528 SequenceVariant denotes R1306W

Test-GeneOrGeneProduct

Id Subject Object Predicate Lexical cue
T1 409-423 GeneOrGeneProduct denotes platelet count
T2 488-509 GeneOrGeneProduct denotes von Willebrand factor
T3 634-638 GeneOrGeneProduct denotes RIPA
T4 829-850 GeneOrGeneProduct denotes von Willebrand factor
T5 852-855 GeneOrGeneProduct denotes VWF
T6 1016-1019 GeneOrGeneProduct denotes VWF
T7 1268-1280 GeneOrGeneProduct denotes glycoprotein
T8 1354-1357 GeneOrGeneProduct denotes VWF
T9 1541-1544 GeneOrGeneProduct denotes VWF

Test-merged-2

Id Subject Object Predicate Lexical cue #label ID:
T46254 72-78 SequenceVariant denotes R1306W
T82792 1211-1223 SequenceVariant denotes Arg 1306 Trp
T92092 1225-1231 SequenceVariant denotes R1306W
T57553 1522-1528 SequenceVariant denotes R1306W
T24079 401-404 ChemicalEntity denotes PTT http://purl.obolibrary.org/obo/CHEBI_3088
T38787 557-567 ChemicalEntity denotes ristocetin http://purl.obolibrary.org/obo/CHEBI_85129
T27974 593-603 ChemicalEntity denotes ristocetin http://purl.obolibrary.org/obo/CHEBI_85129
T50705 664-674 ChemicalEntity denotes ristocetin http://purl.obolibrary.org/obo/CHEBI_85129
T65281 731-741 ChemicalEntity denotes ristocetin http://purl.obolibrary.org/obo/CHEBI_85129
T4122 1211-1214 ChemicalEntity denotes Arg http://purl.obolibrary.org/obo/CHEBI_29952|http://purl.obolibrary.org/obo/CHEBI_16467
T14858 1220-1223 ChemicalEntity denotes Trp http://purl.obolibrary.org/obo/CHEBI_29954|http://purl.obolibrary.org/obo/CHEBI_27897|http://purl.obolibrary.org/obo/CHEBI_16828
T50816 409-423 GeneOrGeneProduct denotes platelet count
T77624 488-509 GeneOrGeneProduct denotes von Willebrand factor
T4499 634-638 GeneOrGeneProduct denotes RIPA
T53768 829-850 GeneOrGeneProduct denotes von Willebrand factor
T94915 852-855 GeneOrGeneProduct denotes VWF
T79085 1016-1019 GeneOrGeneProduct denotes VWF
T6501 1268-1280 GeneOrGeneProduct denotes glycoprotein
T4501 1354-1357 GeneOrGeneProduct denotes VWF
T9 1541-1544 GeneOrGeneProduct denotes VWF
T30794 233-242 OrganismTaxon denotes old woman
T1 36-66 DiseaseOrPhenotypicFeature denotes type 2B von Willebrand disease D056728
T2 114-128 DiseaseOrPhenotypicFeature denotes genetic defect DISEASE
T3 156-186 DiseaseOrPhenotypicFeature denotes type 2B von Willebrand disease D056728
T4 188-191 DiseaseOrPhenotypicFeature denotes VWD D014842
T5 352-361 DiseaseOrPhenotypicFeature denotes bleedings D006470
T6 446-454 DiseaseOrPhenotypicFeature denotes bleeding D006470
T7 1420-1436 DiseaseOrPhenotypicFeature denotes thrombocytopenia D013921
T8 1479-1482 DiseaseOrPhenotypicFeature denotes VWD D014842

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-88 Sentence denotes A first Taiwanese Chinese family of type 2B von Willebrand disease with R1306W mutation.
TextSentencer_T2 89-206 Sentence denotes Clinical, laboratory and genetic defect of a Taiwanese family with type 2B von Willebrand disease (VWD) were studied.
TextSentencer_T3 207-320 Sentence denotes The proband was a 55-year-old woman who gave birth to two daughters and one son aged 30, 29 and 27, respectively.
TextSentencer_T4 321-384 Sentence denotes All had abnormal mucocutaneous bleedings since their childhood.
TextSentencer_T5 385-705 Sentence denotes In proband, PT, PTT and platelet count were normal; template bleeding time was 14 min; VIII:C was 51%, von Willebrand factor antigen (VWF:Ag), 42% and von Willerand factor ristocetin-cofactor (VWF:RCo, 15%); ristocetin-induced platelet aggregation (RIPA) at 0.3 and 0.6 mg/ml of ristocetin was 16% and 68%, respectively.
TextSentencer_T6 706-816 Sentence denotes The enhanced response to ristocetin was identified to be in plasma, not in platelet itself, by mixing studies.
TextSentencer_T7 817-952 Sentence denotes Analysis of von Willebrand factor (VWF) multimer of plasma but not of platelets showed absence of high-molecular weight (HMW) multimer.
TextSentencer_T8 953-1004 Sentence denotes All three children had similar laboratory findings.
TextSentencer_T9 1005-1091 Sentence denotes Exon 28 of VWF gene was amplified using polymerase chain reaction (PCR) and sequenced.
TextSentencer_T10 1092-1246 Sentence denotes The proband and three children were all found to be heterozygous for C to T transition at nucleotide 3916 resulting in Arg 1306 Trp (R1306W) substitution.
TextSentencer_T11 1247-1437 Sentence denotes This mutation in the glycoprotein Ib (GPIb)-binding site has been found to increase the affinity of plasma VWF for platelets, and thus cause loss of HMW multimers and often thrombocytopenia.
TextSentencer_T12 1438-1564 Sentence denotes In conclusion, a first report of type 2B VWD in a Taiwanese Chinese family who show R1306W mutation in VWF gene was described.
T1 0-88 Sentence denotes A first Taiwanese Chinese family of type 2B von Willebrand disease with R1306W mutation.
T2 89-206 Sentence denotes Clinical, laboratory and genetic defect of a Taiwanese family with type 2B von Willebrand disease (VWD) were studied.
T3 207-320 Sentence denotes The proband was a 55-year-old woman who gave birth to two daughters and one son aged 30, 29 and 27, respectively.
T4 321-384 Sentence denotes All had abnormal mucocutaneous bleedings since their childhood.
T5 385-705 Sentence denotes In proband, PT, PTT and platelet count were normal; template bleeding time was 14 min; VIII:C was 51%, von Willebrand factor antigen (VWF:Ag), 42% and von Willerand factor ristocetin-cofactor (VWF:RCo, 15%); ristocetin-induced platelet aggregation (RIPA) at 0.3 and 0.6 mg/ml of ristocetin was 16% and 68%, respectively.
T6 706-816 Sentence denotes The enhanced response to ristocetin was identified to be in plasma, not in platelet itself, by mixing studies.
T7 817-952 Sentence denotes Analysis of von Willebrand factor (VWF) multimer of plasma but not of platelets showed absence of high-molecular weight (HMW) multimer.
T8 953-1004 Sentence denotes All three children had similar laboratory findings.
T9 1005-1091 Sentence denotes Exon 28 of VWF gene was amplified using polymerase chain reaction (PCR) and sequenced.
T10 1092-1246 Sentence denotes The proband and three children were all found to be heterozygous for C to T transition at nucleotide 3916 resulting in Arg 1306 Trp (R1306W) substitution.
T11 1247-1437 Sentence denotes This mutation in the glycoprotein Ib (GPIb)-binding site has been found to increase the affinity of plasma VWF for platelets, and thus cause loss of HMW multimers and often thrombocytopenia.
T12 1438-1564 Sentence denotes In conclusion, a first report of type 2B VWD in a Taiwanese Chinese family who show R1306W mutation in VWF gene was described.

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
15041272-0#72#78#geners61749384 72-78 geners61749384 denotes R1306W
15041272-0#36#66#diseaseC1282971 36-66 diseaseC1282971 denotes type 2B von Willebrand disease
72#78#geners6174938436#66#diseaseC1282971 15041272-0#72#78#geners61749384 15041272-0#36#66#diseaseC1282971 associated_with R1306W,type 2B von Willebrand disease

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
15041272-10#107#110#gene7450 1354-1357 gene7450 denotes VWF
15041272-10#173#189#diseaseC0040034 1420-1436 diseaseC0040034 denotes thrombocytopenia
15041272-11#103#106#gene7450 1541-1544 gene7450 denotes VWF
15041272-11#41#44#diseaseC1282971 1479-1482 diseaseC1282971 denotes VWD
107#110#gene7450173#189#diseaseC0040034 15041272-10#107#110#gene7450 15041272-10#173#189#diseaseC0040034 associated_with VWF,thrombocytopenia
103#106#gene745041#44#diseaseC1282971 15041272-11#103#106#gene7450 15041272-11#41#44#diseaseC1282971 associated_with VWF,VWD

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 1420-1436 HP:0001873 denotes thrombocytopenia

PubCasesORDO

Id Subject Object Predicate Lexical cue
TI1 44-66 ORDO:903 denotes von Willebrand disease
AB1 164-186 ORDO:903 denotes von Willebrand disease

tmVarCorpus

Id Subject Object Predicate Lexical cue
T1 72-78 ProteinMutation:p|SUB|R|1306|W denotes R1306W
T2 1211-1223 ProteinMutation:p|SUB|R|1306|W denotes Arg 1306 Trp
T3 1225-1231 ProteinMutation:p|SUB|R|1306|W denotes R1306W
T4 1522-1528 ProteinMutation:p|SUB|R|1306|W denotes R1306W

DisGeNET

Id Subject Object Predicate Lexical cue
T0 1541-1544 gene:7450 denotes VWF
T1 1479-1482 disease:C1282971 denotes VWD
R1 T0 T1 associated_with VWF,VWD

biored-valid-deepseek-nr-ng

Id Subject Object Predicate Lexical cue
T1 41-43 DiseaseOrPhenotypicFeature denotes 2B
T2 44-58 DiseaseOrPhenotypicFeature denotes von Willebrand
T3 59-66 DiseaseOrPhenotypicFeature denotes disease
T4 72-78 SequenceVariant denotes R1306W
T5 79-87 SequenceVariant denotes mutation
T6 161-163 DiseaseOrPhenotypicFeature denotes 2B
T7 164-178 DiseaseOrPhenotypicFeature denotes von Willebrand
T8 179-186 DiseaseOrPhenotypicFeature denotes disease
T9 188-191 DiseaseOrPhenotypicFeature denotes VWD
T10 397-399 ChemicalEntity denotes PT
T11 401-404 ChemicalEntity denotes PTT
T12 483-486 ChemicalEntity denotes 51%
T13 488-517 ChemicalEntity denotes von Willebrand factor antigen
T14 519-525 ChemicalEntity denotes VWF:Ag
T15 528-531 ChemicalEntity denotes 42%
T16 536-576 ChemicalEntity denotes von Willerand factor ristocetin-cofactor
T17 578-585 ChemicalEntity denotes VWF:RCo
T18 587-590 ChemicalEntity denotes 15%
T19 593-632 ChemicalEntity denotes ristocetin-induced platelet aggregation
T20 634-638 ChemicalEntity denotes RIPA
T21 643-646 ChemicalEntity denotes 0.3
T22 651-654 ChemicalEntity denotes 0.6
T23 655-674 ChemicalEntity denotes mg/ml of ristocetin
T24 679-682 ChemicalEntity denotes 16%
T25 687-690 ChemicalEntity denotes 68%
T26 766-772 ChemicalEntity denotes plasma
T27 829-850 ChemicalEntity denotes von Willebrand factor
T28 852-855 GeneOrGeneProduct denotes VWF
T29 857-865 ChemicalEntity denotes multimer
T30 887-896 CellLine denotes platelets
T31 915-919 ChemicalEntity denotes high
T32 920-929 ChemicalEntity denotes molecular
T33 930-936 ChemicalEntity denotes weight
T34 938-941 ChemicalEntity denotes HMW
T35 1005-1012 SequenceVariant denotes Exon 28
T36 1016-1019 GeneOrGeneProduct denotes VWF
T37 1020-1024 GeneOrGeneProduct denotes gene
T38 1072-1075 ChemicalEntity denotes PCR
T39 1161-1167 SequenceVariant denotes C to T
T40 1193-1197 SequenceVariant denotes 3916
T41 1211-1214 SequenceVariant denotes Arg
T42 1215-1219 SequenceVariant denotes 1306
T43 1220-1223 SequenceVariant denotes Trp
T44 1225-1231 SequenceVariant denotes R1306W
T45 1233-1245 SequenceVariant denotes substitution
T46 1252-1260 SequenceVariant denotes mutation
T47 1268-1283 GeneOrGeneProduct denotes glycoprotein Ib
T48 1285-1289 GeneOrGeneProduct denotes GPIb
T49 1347-1353 ChemicalEntity denotes plasma
T50 1354-1357 GeneOrGeneProduct denotes VWF
T51 1362-1371 CellLine denotes platelets
T52 1400-1409 ChemicalEntity denotes multimers
T53 1420-1436 DiseaseOrPhenotypicFeature denotes thrombocytopenia
T54 1476-1478 DiseaseOrPhenotypicFeature denotes 2B
T55 1479-1482 DiseaseOrPhenotypicFeature denotes VWD
T56 1545-1549 GeneOrGeneProduct denotes gene

biored-valid

Id Subject Object Predicate Lexical cue
T1 36-66 DiseaseOrPhenotypicFeature denotes type 2B von Willebrand disease
T2 72-78 SequenceVariant denotes R1306W
T3 114-128 DiseaseOrPhenotypicFeature denotes genetic defect
T4 156-186 DiseaseOrPhenotypicFeature denotes type 2B von Willebrand disease
T5 188-191 DiseaseOrPhenotypicFeature denotes VWD
T6 237-242 OrganismTaxon denotes woman
T7 352-361 DiseaseOrPhenotypicFeature denotes bleedings
T8 446-454 DiseaseOrPhenotypicFeature denotes bleeding
T9 472-476 GeneOrGeneProduct denotes VIII
T10 488-509 GeneOrGeneProduct denotes von Willebrand factor
T11 519-522 GeneOrGeneProduct denotes VWF
T12 536-556 GeneOrGeneProduct denotes von Willerand factor
T13 557-567 ChemicalEntity denotes ristocetin
T14 578-581 GeneOrGeneProduct denotes VWF
T15 593-632 DiseaseOrPhenotypicFeature denotes ristocetin-induced platelet aggregation
T16 634-638 DiseaseOrPhenotypicFeature denotes RIPA
T17 664-674 ChemicalEntity denotes ristocetin
T18 731-741 ChemicalEntity denotes ristocetin
T19 829-850 GeneOrGeneProduct denotes von Willebrand factor
T20 852-855 GeneOrGeneProduct denotes VWF
T21 1016-1019 GeneOrGeneProduct denotes VWF
T22 1161-1197 SequenceVariant denotes C to T transition at nucleotide 3916
T23 1211-1223 SequenceVariant denotes Arg 1306 Trp
T24 1225-1231 SequenceVariant denotes R1306W
T25 1268-1283 GeneOrGeneProduct denotes glycoprotein Ib
T26 1285-1289 GeneOrGeneProduct denotes GPIb
T27 1354-1357 GeneOrGeneProduct denotes VWF
T28 1420-1436 DiseaseOrPhenotypicFeature denotes thrombocytopenia
T29 1471-1482 DiseaseOrPhenotypicFeature denotes type 2B VWD
T30 1522-1528 SequenceVariant denotes R1306W
T31 1541-1544 GeneOrGeneProduct denotes VWF

biored-valid-deepseek-nr-g

Id Subject Object Predicate Lexical cue
T1 44-66 DiseaseOrPhenotypicFeature denotes von Willebrand disease
T2 72-78 SequenceVariant denotes R1306W
T3 79-87 SequenceVariant denotes mutation
T4 164-186 DiseaseOrPhenotypicFeature denotes von Willebrand disease
T5 188-191 DiseaseOrPhenotypicFeature denotes VWD
T6 329-361 DiseaseOrPhenotypicFeature denotes abnormal mucocutaneous bleedings
T7 397-399 ChemicalEntity denotes PT
T8 401-404 ChemicalEntity denotes PTT
T9 472-478 GeneOrGeneProduct denotes VIII:C
T10 488-517 GeneOrGeneProduct denotes von Willebrand factor antigen
T11 519-525 GeneOrGeneProduct denotes VWF:Ag
T12 536-576 GeneOrGeneProduct denotes von Willerand factor ristocetin-cofactor
T13 578-585 GeneOrGeneProduct denotes VWF:RCo
T14 593-632 ChemicalEntity denotes ristocetin-induced platelet aggregation
T15 634-638 ChemicalEntity denotes RIPA
T16 664-674 ChemicalEntity denotes ristocetin
T17 766-772 ChemicalEntity denotes plasma
T18 781-789 CellLine denotes platelet
T19 829-850 GeneOrGeneProduct denotes von Willebrand factor
T20 852-855 GeneOrGeneProduct denotes VWF
T21 869-875 ChemicalEntity denotes plasma
T22 887-896 CellLine denotes platelets
T23 915-951 GeneOrGeneProduct denotes high-molecular weight (HMW) multimer
T24 1016-1019 GeneOrGeneProduct denotes VWF
T25 1045-1076 ChemicalEntity denotes polymerase chain reaction (PCR)
T26 1211-1223 SequenceVariant denotes Arg 1306 Trp
T27 1225-1231 SequenceVariant denotes R1306W
T28 1268-1290 GeneOrGeneProduct denotes glycoprotein Ib (GPIb)
T29 1347-1353 ChemicalEntity denotes plasma
T30 1354-1357 GeneOrGeneProduct denotes VWF
T31 1362-1371 CellLine denotes platelets
T32 1396-1409 GeneOrGeneProduct denotes HMW multimers
T33 1420-1436 DiseaseOrPhenotypicFeature denotes thrombocytopenia
T34 1479-1482 DiseaseOrPhenotypicFeature denotes VWD
T35 1522-1528 SequenceVariant denotes R1306W

biored-valid-deepseek-r-ng

Id Subject Object Predicate Lexical cue
T1 36-66 DiseaseOrPhenotypicFeature denotes type 2B von Willebrand disease
T2 72-87 SequenceVariant denotes R1306W mutation
T3 156-186 DiseaseOrPhenotypicFeature denotes type 2B von Willebrand disease
T4 188-191 DiseaseOrPhenotypicFeature denotes VWD
T5 329-361 DiseaseOrPhenotypicFeature denotes abnormal mucocutaneous bleedings
T6 557-567 ChemicalEntity denotes ristocetin
T7 829-856 GeneOrGeneProduct denotes von Willebrand factor (VWF)
T8 1016-1024 GeneOrGeneProduct denotes VWF gene
T9 1161-1197 SequenceVariant denotes C to T transition at nucleotide 3916
T10 1211-1223 SequenceVariant denotes Arg 1306 Trp
T11 1420-1436 DiseaseOrPhenotypicFeature denotes thrombocytopenia

biored-valid-deepseek-r-g

Id Subject Object Predicate Lexical cue
T1 36-66 DiseaseOrPhenotypicFeature denotes type 2B von Willebrand disease
T2 72-78 SequenceVariant denotes R1306W
T3 156-186 DiseaseOrPhenotypicFeature denotes type 2B von Willebrand disease
T4 188-191 DiseaseOrPhenotypicFeature denotes VWD
T5 329-361 DiseaseOrPhenotypicFeature denotes abnormal mucocutaneous bleedings
T6 401-404 GeneOrGeneProduct denotes PTT
T7 488-509 GeneOrGeneProduct denotes von Willebrand factor
T8 519-522 GeneOrGeneProduct denotes VWF
T9 536-556 GeneOrGeneProduct denotes von Willerand factor
T10 557-567 ChemicalEntity denotes ristocetin
T11 578-581 GeneOrGeneProduct denotes VWF
T12 852-855 GeneOrGeneProduct denotes VWF
T13 1016-1019 GeneOrGeneProduct denotes VWF
T14 1211-1223 SequenceVariant denotes Arg 1306 Trp
T15 1225-1231 SequenceVariant denotes R1306W
T16 1268-1283 GeneOrGeneProduct denotes glycoprotein Ib
T17 1285-1289 GeneOrGeneProduct denotes GPIb
T18 1420-1436 DiseaseOrPhenotypicFeature denotes thrombocytopenia
T19 1471-1482 DiseaseOrPhenotypicFeature denotes type 2B VWD

biored-valid-gemini-nr-ng

Id Subject Object Predicate Lexical cue
T1 36-66 DiseaseOrPhenotypicFeature denotes type 2B von Willebrand disease
T2 72-87 SequenceVariant denotes R1306W mutation
T3 156-186 DiseaseOrPhenotypicFeature denotes type 2B von Willebrand disease
T4 188-191 DiseaseOrPhenotypicFeature denotes VWD
T5 329-361 DiseaseOrPhenotypicFeature denotes abnormal mucocutaneous bleedings
T6 409-423 GeneOrGeneProduct denotes platelet count
T7 472-478 GeneOrGeneProduct denotes VIII:C
T8 488-517 GeneOrGeneProduct denotes von Willebrand factor antigen
T9 519-525 GeneOrGeneProduct denotes VWF:Ag
T10 536-576 GeneOrGeneProduct denotes von Willerand factor ristocetin-cofactor
T11 578-585 GeneOrGeneProduct denotes VWF:RCo
T12 593-632 DiseaseOrPhenotypicFeature denotes ristocetin-induced platelet aggregation
T13 634-638 DiseaseOrPhenotypicFeature denotes RIPA
T14 664-674 ChemicalEntity denotes ristocetin
T15 829-850 GeneOrGeneProduct denotes von Willebrand factor
T16 852-855 GeneOrGeneProduct denotes VWF
T17 1016-1024 GeneOrGeneProduct denotes VWF gene
T18 1211-1219 SequenceVariant denotes Arg 1306
T19 1220-1223 SequenceVariant denotes Trp
T20 1225-1231 SequenceVariant denotes R1306W
T21 1268-1283 GeneOrGeneProduct denotes glycoprotein Ib
T22 1285-1289 GeneOrGeneProduct denotes GPIb
T23 1420-1436 DiseaseOrPhenotypicFeature denotes thrombocytopenia
T24 1471-1482 DiseaseOrPhenotypicFeature denotes type 2B VWD
T25 1522-1537 SequenceVariant denotes R1306W mutation

biored-valid-gemini-r-g

Id Subject Object Predicate Lexical cue
T1 36-66 DiseaseOrPhenotypicFeature denotes type 2B von Willebrand disease
T2 72-87 SequenceVariant denotes R1306W mutation
T3 156-192 DiseaseOrPhenotypicFeature denotes type 2B von Willebrand disease (VWD)
T4 329-361 DiseaseOrPhenotypicFeature denotes abnormal mucocutaneous bleedings
T5 472-478 GeneOrGeneProduct denotes VIII:C
T6 488-526 GeneOrGeneProduct denotes von Willebrand factor antigen (VWF:Ag)
T7 557-567 ChemicalEntity denotes ristocetin
T8 593-603 ChemicalEntity denotes ristocetin
T9 664-674 ChemicalEntity denotes ristocetin
T10 829-856 GeneOrGeneProduct denotes von Willebrand factor (VWF)
T11 1016-1024 GeneOrGeneProduct denotes VWF gene
T12 1161-1178 SequenceVariant denotes C to T transition
T13 1211-1245 SequenceVariant denotes Arg 1306 Trp (R1306W) substitution
T14 1268-1290 GeneOrGeneProduct denotes glycoprotein Ib (GPIb)
T15 1420-1436 DiseaseOrPhenotypicFeature denotes thrombocytopenia
T16 1471-1482 DiseaseOrPhenotypicFeature denotes type 2B VWD
T17 1522-1537 SequenceVariant denotes R1306W mutation

biored-valid-gemini-r-ng

Id Subject Object Predicate Lexical cue
T1 8-25 OrganismTaxon denotes Taiwanese Chinese
T2 36-66 DiseaseOrPhenotypicFeature denotes type 2B von Willebrand disease
T3 72-87 SequenceVariant denotes R1306W mutation
T4 134-143 OrganismTaxon denotes Taiwanese
T5 156-192 DiseaseOrPhenotypicFeature denotes type 2B von Willebrand disease (VWD)
T6 237-242 OrganismTaxon denotes woman
T7 329-361 DiseaseOrPhenotypicFeature denotes abnormal mucocutaneous bleedings
T8 397-399 DiseaseOrPhenotypicFeature denotes PT
T9 401-404 DiseaseOrPhenotypicFeature denotes PTT
T10 409-423 DiseaseOrPhenotypicFeature denotes platelet count
T11 437-459 DiseaseOrPhenotypicFeature denotes template bleeding time
T12 472-478 GeneOrGeneProduct denotes VIII:C
T13 488-526 GeneOrGeneProduct denotes von Willebrand factor antigen (VWF:Ag)
T14 536-585 GeneOrGeneProduct denotes von Willerand factor ristocetin-cofactor (VWF:RCo
T15 593-639 DiseaseOrPhenotypicFeature denotes ristocetin-induced platelet aggregation (RIPA)
T16 710-741 DiseaseOrPhenotypicFeature denotes enhanced response to ristocetin
T17 829-865 GeneOrGeneProduct denotes von Willebrand factor (VWF) multimer
T18 904-951 DiseaseOrPhenotypicFeature denotes absence of high-molecular weight (HMW) multimer
T19 1016-1024 GeneOrGeneProduct denotes VWF gene
T20 1161-1197 SequenceVariant denotes C to T transition at nucleotide 3916
T21 1211-1232 SequenceVariant denotes Arg 1306 Trp (R1306W)
T22 1268-1290 GeneOrGeneProduct denotes glycoprotein Ib (GPIb)
T23 1354-1357 GeneOrGeneProduct denotes VWF
T24 1388-1409 DiseaseOrPhenotypicFeature denotes loss of HMW multimers
T25 1420-1436 DiseaseOrPhenotypicFeature denotes thrombocytopenia
T26 1471-1482 DiseaseOrPhenotypicFeature denotes type 2B VWD
T27 1488-1505 OrganismTaxon denotes Taiwanese Chinese
T28 1522-1537 SequenceVariant denotes R1306W mutation
T29 1541-1549 GeneOrGeneProduct denotes VWF gene

biored-valid-gpt-nr-ng

Id Subject Object Predicate Lexical cue
T1 36-66 DiseaseOrPhenotypicFeature denotes type 2B von Willebrand disease
T2 72-78 SequenceVariant denotes R1306W
T3 156-186 DiseaseOrPhenotypicFeature denotes type 2B von Willebrand disease
T4 188-191 DiseaseOrPhenotypicFeature denotes VWD
T5 329-361 DiseaseOrPhenotypicFeature denotes abnormal mucocutaneous bleedings
T6 472-478 GeneOrGeneProduct denotes VIII:C
T7 488-509 GeneOrGeneProduct denotes von Willebrand factor
T8 519-522 GeneOrGeneProduct denotes VWF
T9 536-556 GeneOrGeneProduct denotes von Willerand factor
T10 557-567 ChemicalEntity denotes ristocetin
T11 578-581 GeneOrGeneProduct denotes VWF
T12 664-674 ChemicalEntity denotes ristocetin
T13 731-741 ChemicalEntity denotes ristocetin
T14 829-850 GeneOrGeneProduct denotes von Willebrand factor
T15 852-855 GeneOrGeneProduct denotes VWF
T16 1016-1024 GeneOrGeneProduct denotes VWF gene
T17 1161-1178 SequenceVariant denotes C to T transition
T18 1211-1232 SequenceVariant denotes Arg 1306 Trp (R1306W)
T19 1268-1283 GeneOrGeneProduct denotes glycoprotein Ib
T20 1285-1289 GeneOrGeneProduct denotes GPIb
T21 1354-1357 GeneOrGeneProduct denotes VWF
T22 1420-1436 DiseaseOrPhenotypicFeature denotes thrombocytopenia
T23 1471-1482 DiseaseOrPhenotypicFeature denotes type 2B VWD
T24 1522-1528 SequenceVariant denotes R1306W
T25 1541-1549 GeneOrGeneProduct denotes VWF gene

biored-valid-gpt-nr-g

Id Subject Object Predicate Lexical cue
T1 36-66 DiseaseOrPhenotypicFeature denotes type 2B von Willebrand disease
T2 72-87 SequenceVariant denotes R1306W mutation
T3 156-186 DiseaseOrPhenotypicFeature denotes type 2B von Willebrand disease
T4 188-191 DiseaseOrPhenotypicFeature denotes VWD
T5 329-361 DiseaseOrPhenotypicFeature denotes abnormal mucocutaneous bleedings
T6 488-517 GeneOrGeneProduct denotes von Willebrand factor antigen
T7 519-525 GeneOrGeneProduct denotes VWF:Ag
T8 557-567 ChemicalEntity denotes ristocetin
T9 664-674 ChemicalEntity denotes ristocetin
T10 731-741 ChemicalEntity denotes ristocetin
T11 829-850 GeneOrGeneProduct denotes von Willebrand factor
T12 852-855 GeneOrGeneProduct denotes VWF
T13 1016-1024 GeneOrGeneProduct denotes VWF gene
T14 1161-1197 SequenceVariant denotes C to T transition at nucleotide 3916
T15 1211-1245 SequenceVariant denotes Arg 1306 Trp (R1306W) substitution
T16 1268-1283 GeneOrGeneProduct denotes glycoprotein Ib
T17 1285-1289 GeneOrGeneProduct denotes GPIb
T18 1354-1357 GeneOrGeneProduct denotes VWF
T19 1420-1436 DiseaseOrPhenotypicFeature denotes thrombocytopenia
T20 1471-1482 DiseaseOrPhenotypicFeature denotes type 2B VWD
T21 1522-1537 SequenceVariant denotes R1306W mutation
T22 1541-1549 GeneOrGeneProduct denotes VWF gene

biored-valid-gpt-r-g

Id Subject Object Predicate Lexical cue
T1 36-66 DiseaseOrPhenotypicFeature denotes type 2B von Willebrand disease
T2 72-78 SequenceVariant denotes R1306W
T3 156-186 DiseaseOrPhenotypicFeature denotes type 2B von Willebrand disease
T4 188-191 DiseaseOrPhenotypicFeature denotes VWD
T5 338-361 DiseaseOrPhenotypicFeature denotes mucocutaneous bleedings
T6 472-478 GeneOrGeneProduct denotes VIII:C
T7 488-517 GeneOrGeneProduct denotes von Willebrand factor antigen
T8 519-525 GeneOrGeneProduct denotes VWF:Ag
T9 536-556 GeneOrGeneProduct denotes von Willerand factor
T10 557-567 ChemicalEntity denotes ristocetin
T11 578-585 GeneOrGeneProduct denotes VWF:RCo
T12 664-674 ChemicalEntity denotes ristocetin
T13 731-741 ChemicalEntity denotes ristocetin
T14 829-850 GeneOrGeneProduct denotes von Willebrand factor
T15 852-855 GeneOrGeneProduct denotes VWF
T16 1016-1024 GeneOrGeneProduct denotes VWF gene
T17 1161-1197 SequenceVariant denotes C to T transition at nucleotide 3916
T18 1211-1223 SequenceVariant denotes Arg 1306 Trp
T19 1225-1231 SequenceVariant denotes R1306W
T20 1268-1283 GeneOrGeneProduct denotes glycoprotein Ib
T21 1285-1289 GeneOrGeneProduct denotes GPIb
T22 1354-1357 GeneOrGeneProduct denotes VWF
T23 1420-1436 DiseaseOrPhenotypicFeature denotes thrombocytopenia
T24 1471-1482 DiseaseOrPhenotypicFeature denotes type 2B VWD
T25 1522-1528 SequenceVariant denotes R1306W
T26 1541-1549 GeneOrGeneProduct denotes VWF gene

biored-valid-gpt-r-ng

Id Subject Object Predicate Lexical cue
T1 36-66 DiseaseOrPhenotypicFeature denotes type 2B von Willebrand disease
T2 72-78 SequenceVariant denotes R1306W
T3 156-186 DiseaseOrPhenotypicFeature denotes type 2B von Willebrand disease
T4 188-191 DiseaseOrPhenotypicFeature denotes VWD
T5 329-361 DiseaseOrPhenotypicFeature denotes abnormal mucocutaneous bleedings
T6 472-478 GeneOrGeneProduct denotes VIII:C
T7 488-517 GeneOrGeneProduct denotes von Willebrand factor antigen
T8 519-525 GeneOrGeneProduct denotes VWF:Ag
T9 536-576 GeneOrGeneProduct denotes von Willerand factor ristocetin-cofactor
T10 578-585 GeneOrGeneProduct denotes VWF:RCo
T11 664-674 ChemicalEntity denotes ristocetin
T12 731-741 ChemicalEntity denotes ristocetin
T13 829-850 GeneOrGeneProduct denotes von Willebrand factor
T14 852-855 GeneOrGeneProduct denotes VWF
T15 1016-1024 GeneOrGeneProduct denotes VWF gene
T16 1161-1197 SequenceVariant denotes C to T transition at nucleotide 3916
T17 1211-1223 SequenceVariant denotes Arg 1306 Trp
T18 1225-1231 SequenceVariant denotes R1306W
T19 1268-1283 GeneOrGeneProduct denotes glycoprotein Ib
T20 1285-1289 GeneOrGeneProduct denotes GPIb
T21 1354-1357 GeneOrGeneProduct denotes VWF
T22 1420-1436 DiseaseOrPhenotypicFeature denotes thrombocytopenia
T23 1471-1482 DiseaseOrPhenotypicFeature denotes type 2B VWD
T24 1522-1528 SequenceVariant denotes R1306W
T25 1541-1549 GeneOrGeneProduct denotes VWF gene

biored-valid-gemini-nr-g

Id Subject Object Predicate Lexical cue
T1 36-66 DiseaseOrPhenotypicFeature denotes type 2B von Willebrand disease
T2 72-78 SequenceVariant denotes R1306W
T3 156-186 DiseaseOrPhenotypicFeature denotes type 2B von Willebrand disease
T4 188-191 DiseaseOrPhenotypicFeature denotes VWD
T5 329-361 DiseaseOrPhenotypicFeature denotes abnormal mucocutaneous bleedings
T6 401-404 GeneOrGeneProduct denotes PTT
T7 488-517 GeneOrGeneProduct denotes von Willebrand factor antigen
T8 519-525 GeneOrGeneProduct denotes VWF:Ag
T9 536-576 GeneOrGeneProduct denotes von Willerand factor ristocetin-cofactor
T10 578-585 GeneOrGeneProduct denotes VWF:RCo
T11 593-632 DiseaseOrPhenotypicFeature denotes ristocetin-induced platelet aggregation
T12 634-638 DiseaseOrPhenotypicFeature denotes RIPA
T13 664-674 ChemicalEntity denotes ristocetin
T14 829-850 GeneOrGeneProduct denotes von Willebrand factor
T15 852-855 GeneOrGeneProduct denotes VWF
T16 1016-1024 GeneOrGeneProduct denotes VWF gene
T17 1211-1219 SequenceVariant denotes Arg 1306
T18 1220-1223 SequenceVariant denotes Trp
T19 1225-1231 SequenceVariant denotes R1306W
T20 1268-1283 GeneOrGeneProduct denotes glycoprotein Ib
T21 1285-1289 GeneOrGeneProduct denotes GPIb
T22 1420-1436 DiseaseOrPhenotypicFeature denotes thrombocytopenia
T23 1471-1482 DiseaseOrPhenotypicFeature denotes type 2B VWD

biored-valid-gpt-r-m

Id Subject Object Predicate Lexical cue
T1 36-66 DiseaseOrPhenotypicFeature denotes type 2B von Willebrand disease
T2 72-78 SequenceVariant denotes R1306W
T3 156-186 DiseaseOrPhenotypicFeature denotes type 2B von Willebrand disease
T4 188-191 DiseaseOrPhenotypicFeature denotes VWD
T5 329-361 DiseaseOrPhenotypicFeature denotes abnormal mucocutaneous bleedings
T6 472-478 GeneOrGeneProduct denotes VIII:C
T7 488-509 GeneOrGeneProduct denotes von Willebrand factor
T8 519-522 GeneOrGeneProduct denotes VWF
T9 536-556 GeneOrGeneProduct denotes von Willerand factor
T10 557-567 ChemicalEntity denotes ristocetin
T11 578-581 GeneOrGeneProduct denotes VWF
T12 664-674 ChemicalEntity denotes ristocetin
T13 731-741 ChemicalEntity denotes ristocetin
T14 829-850 GeneOrGeneProduct denotes von Willebrand factor
T15 852-855 GeneOrGeneProduct denotes VWF
T16 1016-1019 GeneOrGeneProduct denotes VWF
T17 1161-1197 SequenceVariant denotes C to T transition at nucleotide 3916
T18 1211-1223 SequenceVariant denotes Arg 1306 Trp
T19 1225-1231 SequenceVariant denotes R1306W
T20 1268-1283 GeneOrGeneProduct denotes glycoprotein Ib
T21 1285-1289 GeneOrGeneProduct denotes GPIb
T22 1354-1357 GeneOrGeneProduct denotes VWF
T23 1420-1436 DiseaseOrPhenotypicFeature denotes thrombocytopenia
T24 1471-1482 DiseaseOrPhenotypicFeature denotes type 2B VWD
T25 1522-1528 SequenceVariant denotes R1306W
T26 1541-1544 GeneOrGeneProduct denotes VWF

biored-valid-gemini-r-m

Id Subject Object Predicate Lexical cue
T1 8-25 OrganismTaxon denotes Taiwanese Chinese
T2 36-66 DiseaseOrPhenotypicFeature denotes type 2B von Willebrand disease
T3 72-87 SequenceVariant denotes R1306W mutation
T4 134-143 OrganismTaxon denotes Taiwanese
T5 156-192 DiseaseOrPhenotypicFeature denotes type 2B von Willebrand disease (VWD)
T6 211-218 OrganismTaxon denotes proband
T7 237-242 OrganismTaxon denotes woman
T8 265-274 OrganismTaxon denotes daughters
T9 283-286 OrganismTaxon denotes son
T10 338-361 DiseaseOrPhenotypicFeature denotes mucocutaneous bleedings
T11 388-395 OrganismTaxon denotes proband
T12 472-478 GeneOrGeneProduct denotes VIII:C
T13 488-526 GeneOrGeneProduct denotes von Willebrand factor antigen (VWF:Ag)
T14 536-556 GeneOrGeneProduct denotes von Willerand factor
T15 557-567 ChemicalEntity denotes ristocetin
T16 578-585 GeneOrGeneProduct denotes VWF:RCo
T17 593-603 ChemicalEntity denotes ristocetin
T18 829-856 GeneOrGeneProduct denotes von Willebrand factor (VWF)
T19 963-971 OrganismTaxon denotes children
T20 1016-1024 GeneOrGeneProduct denotes VWF gene
T21 1096-1103 OrganismTaxon denotes proband
T22 1161-1197 SequenceVariant denotes C to T transition at nucleotide 3916
T23 1211-1245 SequenceVariant denotes Arg 1306 Trp (R1306W) substitution
T24 1268-1290 GeneOrGeneProduct denotes glycoprotein Ib (GPIb)
T25 1420-1436 DiseaseOrPhenotypicFeature denotes thrombocytopenia
T26 1471-1482 DiseaseOrPhenotypicFeature denotes type 2B VWD
T27 1488-1505 OrganismTaxon denotes Taiwanese Chinese
T28 1522-1537 SequenceVariant denotes R1306W mutation

biored-valid-deepseek-r-m

Id Subject Object Predicate Lexical cue
T1 36-66 DiseaseOrPhenotypicFeature denotes type 2B von Willebrand disease
T2 72-78 SequenceVariant denotes R1306W
T3 156-186 DiseaseOrPhenotypicFeature denotes type 2B von Willebrand disease
T4 188-191 DiseaseOrPhenotypicFeature denotes VWD
T5 329-361 DiseaseOrPhenotypicFeature denotes abnormal mucocutaneous bleedings
T6 472-478 GeneOrGeneProduct denotes VIII:C
T7 488-509 GeneOrGeneProduct denotes von Willebrand factor
T8 519-525 GeneOrGeneProduct denotes VWF:Ag
T9 536-556 GeneOrGeneProduct denotes von Willerand factor
T10 557-567 ChemicalEntity denotes ristocetin
T11 578-585 GeneOrGeneProduct denotes VWF:RCo
T12 1016-1024 GeneOrGeneProduct denotes VWF gene
T13 1161-1178 SequenceVariant denotes C to T transition
T14 1211-1223 SequenceVariant denotes Arg 1306 Trp
T15 1225-1231 SequenceVariant denotes R1306W
T16 1268-1283 GeneOrGeneProduct denotes glycoprotein Ib
T17 1285-1289 GeneOrGeneProduct denotes GPIb
T18 1420-1436 DiseaseOrPhenotypicFeature denotes thrombocytopenia
T19 1471-1482 DiseaseOrPhenotypicFeature denotes type 2B VWD