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PubMed:10102532 JSONTXT

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PMID_GLOBAL

Id Subject Object Predicate Lexical cue mondo_id
T1 0-22 DiseaseOrPhenotypicFeature denotes von Willebrand disease 0019565|0024574
T3 120-142 DiseaseOrPhenotypicFeature denotes von Willebrand disease 0019565|0024574
T5 144-147 DiseaseOrPhenotypicFeature denotes vWD 0019565
T6 1036-1042 DiseaseOrPhenotypicFeature denotes defect 0008568
T7 1046-1068 DiseaseOrPhenotypicFeature denotes von Willebrand disease 0019565|0024574

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-73 Sentence denotes von Willebrand disease with G4022A mutation (vWd Sungnam): a case report.
TextSentencer_T2 74-234 Sentence denotes A 10-year-old male patient affected by type 2 von Willebrand disease (vWD) and his family members were investigated by hemostatic and molecular genetic studies.
TextSentencer_T3 235-527 Sentence denotes The propositus, who experienced frequent bleeding episodes, was characterized by a normal level of von Willebrand factor (vWF) antigen (54%), reduced vWF ristocetin cofactor activity (5%), decreased factor VIII clotting activity (25%) and absent high molecular weight multimers in the plasma.
TextSentencer_T4 528-638 Sentence denotes An exon 28 fragment coding for the A1 and A2 domains was amplified by polymerase chain reaction and sequenced.
TextSentencer_T5 639-777 Sentence denotes We found a heterozygous mutation (G4022A), producing an additional PstI restriction site, which resulted in the substitution of Arg578Gln.
TextSentencer_T6 778-903 Sentence denotes Family studies, including the parents and a brother, were negative for this mutation and vWF abnormalities were not observed.
TextSentencer_T7 904-1069 Sentence denotes We confirmed that G to A mutation in the region of the platelet glycoprotein Ib binding domain of vWF causes the qualitative type 2 defect in von Willebrand disease.
T1 0-73 Sentence denotes von Willebrand disease with G4022A mutation (vWd Sungnam): a case report.
T2 74-234 Sentence denotes A 10-year-old male patient affected by type 2 von Willebrand disease (vWD) and his family members were investigated by hemostatic and molecular genetic studies.
T3 235-527 Sentence denotes The propositus, who experienced frequent bleeding episodes, was characterized by a normal level of von Willebrand factor (vWF) antigen (54%), reduced vWF ristocetin cofactor activity (5%), decreased factor VIII clotting activity (25%) and absent high molecular weight multimers in the plasma.
T4 528-638 Sentence denotes An exon 28 fragment coding for the A1 and A2 domains was amplified by polymerase chain reaction and sequenced.
T5 639-777 Sentence denotes We found a heterozygous mutation (G4022A), producing an additional PstI restriction site, which resulted in the substitution of Arg578Gln.
T6 778-903 Sentence denotes Family studies, including the parents and a brother, were negative for this mutation and vWF abnormalities were not observed.
T7 904-1069 Sentence denotes We confirmed that G to A mutation in the region of the platelet glycoprotein Ib binding domain of vWF causes the qualitative type 2 defect in von Willebrand disease.

PubCasesORDO

Id Subject Object Predicate Lexical cue
TI1 0-22 ORDO:903 denotes von Willebrand disease
AB1 120-142 ORDO:903 denotes von Willebrand disease
AB2 1046-1068 ORDO:903 denotes von Willebrand disease

DisGeNET

Id Subject Object Predicate Lexical cue
T0 1002-1005 gene:7450 denotes vWF
T1 1046-1068 disease:C0042974 denotes von Willebrand disease
R1 T0 T1 associated_with vWF,von Willebrand disease