PubMed:1684569
Annnotations
sentences
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TextSentencer_T1 | 0-183 | Sentence | denotes | Analysis of X-chromosome inactivation and presumptive expression of the Wiskott-Aldrich syndrome (WAS) gene in hematopoietic cell lineages of a thrombocytopenic carrier female of WAS. |
| TextSentencer_T2 | 184-287 | Sentence | denotes | We report on a thrombocytopenic female belonging to a pedigree with the Wiskott-Aldrich syndrome (WAS). |
| TextSentencer_T3 | 288-440 | Sentence | denotes | Restriction fragment length polymorphism (RFLP) analysis with probe M27 beta, closely linked to the WAS gene, demonstrated that she is a carrier of WAS. |
| TextSentencer_T4 | 441-651 | Sentence | denotes | Both small-sized and normal-sized platelets were present, suggesting that, unlike the vast majority of WAS carriers, she does not manifest nonrandom X-chromosome inactivation in the thrombopoietic cell lineage. |
| TextSentencer_T5 | 652-847 | Sentence | denotes | Study of X-chromosome inactivation by means of RFLP and methylation analysis demonstrated that the pattern of X-chromosome inactivation was nonrandom in T lymphocytes, but random in granulocytes. |
| TextSentencer_T6 | 848-1163 | Sentence | denotes | While this is the first complete report on the occurrence of thrombocytopenia in a carrier female of WAS as the result of atypical lyonization, it also suggests that expression of the WAS gene occurs at (or extends up to) a later stage than the multipotent stem cell along the hematopoietic differentiation pathway. |
| T1 | 0-183 | Sentence | denotes | Analysis of X-chromosome inactivation and presumptive expression of the Wiskott-Aldrich syndrome (WAS) gene in hematopoietic cell lineages of a thrombocytopenic carrier female of WAS. |
| T2 | 184-287 | Sentence | denotes | We report on a thrombocytopenic female belonging to a pedigree with the Wiskott-Aldrich syndrome (WAS). |
| T3 | 288-440 | Sentence | denotes | Restriction fragment length polymorphism (RFLP) analysis with probe M27 beta, closely linked to the WAS gene, demonstrated that she is a carrier of WAS. |
| T4 | 441-651 | Sentence | denotes | Both small-sized and normal-sized platelets were present, suggesting that, unlike the vast majority of WAS carriers, she does not manifest nonrandom X-chromosome inactivation in the thrombopoietic cell lineage. |
| T5 | 652-847 | Sentence | denotes | Study of X-chromosome inactivation by means of RFLP and methylation analysis demonstrated that the pattern of X-chromosome inactivation was nonrandom in T lymphocytes, but random in granulocytes. |
| T6 | 848-1163 | Sentence | denotes | While this is the first complete report on the occurrence of thrombocytopenia in a carrier female of WAS as the result of atypical lyonization, it also suggests that expression of the WAS gene occurs at (or extends up to) a later stage than the multipotent stem cell along the hematopoietic differentiation pathway. |
PubmedHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 199-215 | HP_0001873 | denotes | thrombocytopenic |
| T2 | 909-925 | HP_0001873 | denotes | thrombocytopenia |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 1684569-0#72#96#gene7454 | 72-96 | gene7454 | denotes | Wiskott-Aldrich syndrome |
| 1684569-0#98#101#gene7454 | 98-101 | gene7454 | denotes | WAS |
| 1684569-0#179#182#diseaseC0043194 | 179-182 | diseaseC0043194 | denotes | WAS |
| 1684569-5#184#187#gene7454 | 1032-1035 | gene7454 | denotes | WAS |
| 1684569-5#61#77#diseaseC0040034 | 909-925 | diseaseC0040034 | denotes | thrombocytopenia |
| 72#96#gene7454179#182#diseaseC0043194 | 1684569-0#72#96#gene7454 | 1684569-0#179#182#diseaseC0043194 | associated_with | Wiskott-Aldrich syndrome,WAS |
| 98#101#gene7454179#182#diseaseC0043194 | 1684569-0#98#101#gene7454 | 1684569-0#179#182#diseaseC0043194 | associated_with | WAS,WAS |
| 184#187#gene745461#77#diseaseC0040034 | 1684569-5#184#187#gene7454 | 1684569-5#61#77#diseaseC0040034 | associated_with | WAS,thrombocytopenia |
PubCasesHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| AB1 | 909-925 | HP:0001873 | denotes | thrombocytopenia |
PubCasesORDO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TI1 | 72-96 | ORDO:906 | denotes | Wiskott-Aldrich syndrome |
NCBIDiseaseCorpus
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 72-96 | Modifier:D014923 | denotes | Wiskott-Aldrich syndrome |
| T2 | 98-101 | Modifier:D014923 | denotes | WAS |
| T3 | 179-182 | SpecificDisease:D014923 | denotes | WAS |
| T4 | 199-215 | Modifier:D013921 | denotes | thrombocytopenic |
| T5 | 256-280 | SpecificDisease:D014923 | denotes | Wiskott-Aldrich syndrome |
| T6 | 282-285 | SpecificDisease:D014923 | denotes | WAS |
| T7 | 388-391 | Modifier:D014923 | denotes | WAS |
| T8 | 436-439 | SpecificDisease:D014923 | denotes | WAS |
| T9 | 544-547 | Modifier:D014923 | denotes | WAS |
| T10 | 909-925 | SpecificDisease:D013921 | denotes | thrombocytopenia |
| T11 | 949-952 | SpecificDisease:D014923 | denotes | WAS |
| T12 | 1032-1035 | Modifier:D014923 | denotes | WAS |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 388-391 | gene:7454 | denotes | WAS |
| T1 | 436-439 | disease:C0043194 | denotes | WAS |
| R1 | T0 | T1 | associated_with | WAS,WAS |
NCBI-Disease-Train
| Id | Subject | Object | Predicate | Lexical cue | database_id |
|---|---|---|---|---|---|
| T488 | 72-96 | Modifier | denotes | Wiskott-Aldrich syndrome | D014923 |
| T489 | 98-101 | Modifier | denotes | WAS | D014923 |
| T490 | 179-182 | SpecificDisease | denotes | WAS | D014923 |
| T491 | 199-215 | Modifier | denotes | thrombocytopenic | D013921 |
| T492 | 256-280 | SpecificDisease | denotes | Wiskott-Aldrich syndrome | D014923 |
| T493 | 282-285 | SpecificDisease | denotes | WAS | D014923 |
| T494 | 388-391 | Modifier | denotes | WAS | D014923 |
| T495 | 436-439 | SpecificDisease | denotes | WAS | D014923 |
| T496 | 544-547 | Modifier | denotes | WAS | D014923 |
| T497 | 909-925 | SpecificDisease | denotes | thrombocytopenia | D013921 |
| T498 | 949-952 | SpecificDisease | denotes | WAS | D014923 |
| T499 | 1032-1035 | Modifier | denotes | WAS | D014923 |
NCBI-Disease-Corpus-All
| Id | Subject | Object | Predicate | Lexical cue | database_id |
|---|---|---|---|---|---|
| T488 | 72-96 | Modifier | denotes | Wiskott-Aldrich syndrome | D014923 |
| T489 | 98-101 | Modifier | denotes | WAS | D014923 |
| T490 | 179-182 | SpecificDisease | denotes | WAS | D014923 |
| T491 | 199-215 | Modifier | denotes | thrombocytopenic | D013921 |
| T492 | 256-280 | SpecificDisease | denotes | Wiskott-Aldrich syndrome | D014923 |
| T493 | 282-285 | SpecificDisease | denotes | WAS | D014923 |
| T494 | 388-391 | Modifier | denotes | WAS | D014923 |
| T495 | 436-439 | SpecificDisease | denotes | WAS | D014923 |
| T496 | 544-547 | Modifier | denotes | WAS | D014923 |
| T497 | 909-925 | SpecificDisease | denotes | thrombocytopenia | D013921 |
| T498 | 949-952 | SpecificDisease | denotes | WAS | D014923 |
| T499 | 1032-1035 | Modifier | denotes | WAS | D014923 |
NCBI-Disease-Corpus-2stage-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 72-96 | SpecificDisease | denotes | Wiskott-Aldrich syndrome |
| T2 | 144-160 | Modifier | denotes | thrombocytopenic |
| T3 | 179-182 | SpecificDisease | denotes | WAS |
| T4 | 199-215 | Modifier | denotes | thrombocytopenic |
| T5 | 256-280 | SpecificDisease | denotes | Wiskott-Aldrich syndrome |
| T6 | 436-439 | SpecificDisease | denotes | WAS |
| T7 | 544-547 | SpecificDisease | denotes | WAS |
| T8 | 623-637 | Modifier | denotes | thrombopoietic |
| T9 | 909-925 | SpecificDisease | denotes | thrombocytopenia |
| T10 | 949-952 | SpecificDisease | denotes | WAS |
| T11 | 1032-1035 | SpecificDisease | denotes | WAS |
NCBI-Disease-Corpus-rezarta-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 72-96 | SpecificDisease | denotes | Wiskott-Aldrich syndrome |
| T2 | 144-160 | Modifier | denotes | thrombocytopenic |
| T3 | 179-280 | SpecificDisease | denotes | WAS. We report on a thrombocytopenic female belonging to a pedigree with the Wiskott-Aldrich syndrome |
| T4 | 199-215 | Modifier | denotes | thrombocytopenic |
| T5 | 256-280 | SpecificDisease | denotes | Wiskott-Aldrich syndrome |
| T6 | 909-925 | SpecificDisease | denotes | thrombocytopenia |
| T7 | 949-952 | SpecificDisease | denotes | WAS |
NCBI-Disease-Corpus-4oGuideline-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 72-102 | SpecificDisease | denotes | Wiskott-Aldrich syndrome (WAS) |
| T2 | 144-160 | Modifier | denotes | thrombocytopenic |
| T3 | 179-182 | SpecificDisease | denotes | WAS |
| T4 | 199-215 | Modifier | denotes | thrombocytopenic |
| T5 | 256-286 | SpecificDisease | denotes | Wiskott-Aldrich syndrome (WAS) |
| T6 | 388-391 | SpecificDisease | denotes | WAS |
| T7 | 436-439 | SpecificDisease | denotes | WAS |
| T8 | 544-547 | Modifier | denotes | WAS |
| T9 | 623-637 | Modifier | denotes | thrombopoietic |
| T10 | 909-925 | SpecificDisease | denotes | thrombocytopenia |
| T11 | 949-952 | SpecificDisease | denotes | WAS |
| T12 | 1032-1035 | SpecificDisease | denotes | WAS |
NCBI-Disease-Corpus-Simple-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 72-102 | SpecificDisease | denotes | Wiskott-Aldrich syndrome (WAS) |
| T2 | 144-160 | Modifier | denotes | thrombocytopenic |
| T3 | 179-182 | SpecificDisease | denotes | WAS |
| T4 | 199-215 | Modifier | denotes | thrombocytopenic |
| T5 | 256-286 | SpecificDisease | denotes | Wiskott-Aldrich syndrome (WAS) |
| T6 | 388-391 | SpecificDisease | denotes | WAS |
| T7 | 436-439 | SpecificDisease | denotes | WAS |
| T8 | 544-547 | SpecificDisease | denotes | WAS |
| T9 | 623-650 | DiseaseClass | denotes | thrombopoietic cell lineage |
| T10 | 805-818 | DiseaseClass | denotes | T lymphocytes |
| T11 | 834-846 | DiseaseClass | denotes | granulocytes |
| T12 | 909-952 | CompositeMention | denotes | thrombocytopenia in a carrier female of WAS |
| T13 | 1032-1035 | SpecificDisease | denotes | WAS |