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PubMed:8500791 JSONTXT

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DisGeNET

Id Subject Object Predicate Lexical cue
T0 1255-1259 gene:1351 denotes VIII
T1 1334-1344 disease:C0019069 denotes hemophilia
T2 1255-1259 gene:1351 denotes VIII
T3 1334-1344 disease:C0684275 denotes hemophilia
R1 T0 T1 associated_with VIII,hemophilia
R2 T2 T3 associated_with VIII,hemophilia

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
8500791-0#58#79#gene7450 58-79 gene7450 denotes von Willebrand factor
8500791-0#36#48#diseaseC0019069 36-48 diseaseC0019069 denotes hemophilia A
58#79#gene745036#48#diseaseC0019069 8500791-0#58#79#gene7450 8500791-0#36#48#diseaseC0019069 associated_with von Willebrand factor,hemophilia A

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-89 Sentence denotes Autosomal recessive transmission of hemophilia A due to a von Willebrand factor mutation.
TextSentencer_T2 90-315 Sentence denotes The differential diagnosis of the genetic bleeding disorders, hemophilia A and von Willebrand disease, is occasionally confounded by the close molecular relationship of coagulation factor VIII and von Willebrand factor (vWF).
TextSentencer_T3 316-463 Sentence denotes This report describes the autosomal inheritance of a hemophilia A phenotype due to a mutation of vWF that results in defective factor VIII binding.
TextSentencer_T4 464-537 Sentence denotes The proband was a female patient with low levels of factor VIII activity.
TextSentencer_T5 538-690 Sentence denotes Polymerase chain reaction (PCR) amplification and DNA sequencing were employed to examine exons encoding the putative factor VIII binding domain of vWF.
TextSentencer_T6 691-843 Sentence denotes The patient was found to be homozygous for a single point mutation causing a Thr-->Met substitution at amino acid position 28 in the mature vWF subunit.
TextSentencer_T7 844-980 Sentence denotes The phenotypic expression of the mutation was determined to be recessive because heterozygous family members were clinically unaffected.
TextSentencer_T8 981-1074 Sentence denotes Recombinant vWF containing the observed amino acid substitution was expressed in COS-1 cells.
TextSentencer_T9 1075-1212 Sentence denotes The mutant vWF was processed and secreted normally, and was functionally equivalent to wild-type vWF in its ability to bind to platelets.
TextSentencer_T10 1213-1355 Sentence denotes However, the mutant failed to bind factor VIII, demonstrating that the mutation was functionally related to the observed hemophilia phenotype.
TextSentencer_T11 1356-1685 Sentence denotes The family we describe demonstrates the recessive inheritance of a recently recognized class of genetic bleeding disorders, we call "autosomal hemophilia." We conclude that vWF mutation may be an under recognized cause of hemophilia, especially in cases where the inheritance pattern is not consistent with X-linked transmission.
T1 0-89 Sentence denotes Autosomal recessive transmission of hemophilia A due to a von Willebrand factor mutation.
T2 90-315 Sentence denotes The differential diagnosis of the genetic bleeding disorders, hemophilia A and von Willebrand disease, is occasionally confounded by the close molecular relationship of coagulation factor VIII and von Willebrand factor (vWF).
T3 316-463 Sentence denotes This report describes the autosomal inheritance of a hemophilia A phenotype due to a mutation of vWF that results in defective factor VIII binding.
T4 464-537 Sentence denotes The proband was a female patient with low levels of factor VIII activity.
T5 538-690 Sentence denotes Polymerase chain reaction (PCR) amplification and DNA sequencing were employed to examine exons encoding the putative factor VIII binding domain of vWF.
T6 691-843 Sentence denotes The patient was found to be homozygous for a single point mutation causing a Thr-->Met substitution at amino acid position 28 in the mature vWF subunit.
T7 844-980 Sentence denotes The phenotypic expression of the mutation was determined to be recessive because heterozygous family members were clinically unaffected.
T8 981-1074 Sentence denotes Recombinant vWF containing the observed amino acid substitution was expressed in COS-1 cells.
T9 1075-1212 Sentence denotes The mutant vWF was processed and secreted normally, and was functionally equivalent to wild-type vWF in its ability to bind to platelets.
T10 1213-1355 Sentence denotes However, the mutant failed to bind factor VIII, demonstrating that the mutation was functionally related to the observed hemophilia phenotype.
T11 1356-1685 Sentence denotes The family we describe demonstrates the recessive inheritance of a recently recognized class of genetic bleeding disorders, we call "autosomal hemophilia." We conclude that vWF mutation may be an under recognized cause of hemophilia, especially in cases where the inheritance pattern is not consistent with X-linked transmission.

PubCasesORDO

Id Subject Object Predicate Lexical cue
TI1 36-48 ORDO:98878 denotes hemophilia A
AB1 152-164 ORDO:98878 denotes hemophilia A
AB2 169-191 ORDO:903 denotes von Willebrand disease
AB3 369-381 ORDO:98878 denotes hemophilia A

NCBIDiseaseCorpus

Id Subject Object Predicate Lexical cue
T1 36-48 SpecificDisease:D006467 denotes hemophilia A
T2 58-72 Modifier:D014842 denotes von Willebrand
T3 124-150 DiseaseClass:D025861 denotes genetic bleeding disorders
T4 152-164 SpecificDisease:D006467 denotes hemophilia A
T5 169-191 SpecificDisease:D014842 denotes von Willebrand disease
T6 287-301 Modifier:D014842 denotes von Willebrand
T7 369-381 Modifier:D006467 denotes hemophilia A
T8 1334-1344 Modifier:D006467|D002836 denotes hemophilia
T9 1499-1509 SpecificDisease:D006467|D002836 denotes hemophilia
T10 1578-1588 SpecificDisease:D006467|D002836 denotes hemophilia

NCBI-Disease-Train

Id Subject Object Predicate Lexical cue database_id
T4440 36-48 SpecificDisease denotes hemophilia A D006467
T4441 58-72 Modifier denotes von Willebrand D014842
T4442 124-150 DiseaseClass denotes genetic bleeding disorders D025861
T4443 152-164 SpecificDisease denotes hemophilia A D006467
T4444 169-191 SpecificDisease denotes von Willebrand disease D014842
T4445 287-301 Modifier denotes von Willebrand D014842
T4446 369-381 Modifier denotes hemophilia A D006467
T4447 1334-1344 Modifier denotes hemophilia D006467|D002836
T4448 1499-1509 SpecificDisease denotes hemophilia D006467|D002836
T4449 1578-1588 SpecificDisease denotes hemophilia D006467|D002836

NCBI-Disease-Corpus-All

Id Subject Object Predicate Lexical cue database_id
T4440 36-48 SpecificDisease denotes hemophilia A D006467
T4441 58-72 Modifier denotes von Willebrand D014842
T4442 124-150 DiseaseClass denotes genetic bleeding disorders D025861
T4443 152-164 SpecificDisease denotes hemophilia A D006467
T4444 169-191 SpecificDisease denotes von Willebrand disease D014842
T4445 287-301 Modifier denotes von Willebrand D014842
T4446 369-381 Modifier denotes hemophilia A D006467
T4447 1334-1344 Modifier denotes hemophilia D006467|D002836
T4448 1499-1509 SpecificDisease denotes hemophilia D006467|D002836
T4449 1578-1588 SpecificDisease denotes hemophilia D006467|D002836

NCBI-Disease-Corpus-2stage-All

Id Subject Object Predicate Lexical cue
T1 36-48 SpecificDisease denotes hemophilia A
T2 152-164 SpecificDisease denotes hemophilia A
T3 169-191 SpecificDisease denotes von Willebrand disease
T4 369-381 SpecificDisease denotes hemophilia A
T5 1334-1344 SpecificDisease denotes hemophilia
T6 1499-1509 DiseaseClass denotes hemophilia
T7 1578-1588 SpecificDisease denotes hemophilia

NCBI-Disease-Corpus-rezarta-All

Id Subject Object Predicate Lexical cue
T1 36-48 SpecificDisease denotes hemophilia A
T2 152-164 SpecificDisease denotes hemophilia A
T3 169-191 SpecificDisease denotes von Willebrand disease
T4 369-381 SpecificDisease denotes hemophilia A
T5 1334-1344 SpecificDisease denotes hemophilia
T6 1499-1509 DiseaseClass denotes hemophilia
T7 1578-1588 SpecificDisease denotes hemophilia

NCBI-Disease-Corpus-4oGuideline-All

Id Subject Object Predicate Lexical cue
T1 0-46 DiseaseClass denotes Autosomal recessive transmission of hemophilia
T2 124-150 DiseaseClass denotes genetic bleeding disorders
T3 152-164 SpecificDisease denotes hemophilia A
T4 169-191 SpecificDisease denotes von Willebrand disease
T5 369-391 Modifier denotes hemophilia A phenotype
T6 1334-1344 SpecificDisease denotes hemophilia
T7 1452-1478 DiseaseClass denotes genetic bleeding disorders
T8 1489-1509 SpecificDisease denotes autosomal hemophilia
T9 1578-1588 SpecificDisease denotes hemophilia

NCBI-Disease-Corpus-Simple-All

Id Subject Object Predicate Lexical cue
T1 0-48 CompositeMention denotes Autosomal recessive transmission of hemophilia A
T2 58-88 DiseaseClass denotes von Willebrand factor mutation
T3 124-150 DiseaseClass denotes genetic bleeding disorders
T4 152-164 SpecificDisease denotes hemophilia A
T5 169-191 SpecificDisease denotes von Willebrand disease
T6 287-314 SpecificDisease denotes von Willebrand factor (vWF)
T7 369-391 CompositeMention denotes hemophilia A phenotype
T8 413-416 SpecificDisease denotes vWF
T9 686-689 SpecificDisease denotes vWF
T10 831-834 SpecificDisease denotes vWF
T11 993-996 SpecificDisease denotes vWF
T12 1086-1089 SpecificDisease denotes vWF
T13 1172-1175 SpecificDisease denotes vWF
T14 1334-1354 CompositeMention denotes hemophilia phenotype
T15 1452-1478 DiseaseClass denotes genetic bleeding disorders
T16 1529-1541 SpecificDisease denotes vWF mutation
T17 1578-1588 SpecificDisease denotes hemophilia