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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

Test-merged

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

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