> top > docs > PubMed:8528199 > annotations

PubMed:8528199 JSONTXT

Annnotations TAB JSON ListView MergeView

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-78 Sentence denotes WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia.
TextSentencer_T2 79-213 Sentence denotes The WASP gene has been recently cloned from Xp11.23 and shown to be mutated in three patients with the Wiskott-Aldrich syndrome (WAS).
TextSentencer_T3 214-392 Sentence denotes We have developed a screening protocol for identifying WASP gene alterations in genomic DNA and have identified a spectrum of novel mutations in 12 additional unrelated families.
TextSentencer_T4 393-485 Sentence denotes These missense, nonsense and frameshift mutations involve eight of the 12 exons of the gene.
TextSentencer_T5 486-601 Sentence denotes Two mutations creating premature termination codons were associated with lack of detectable mRNA on Northern blots.
TextSentencer_T6 602-876 Sentence denotes Four amino acid substitutions, Leu27Phe, Thr48Ile, Val75Met and Arg477Lys, were found in patients with congenital thrombocytopenia and no clinically evident immune defect indicating that the WASP gene is the site for mutations in X-linked thrombocytopenia as well as in WAS.
TextSentencer_T7 877-1115 Sentence denotes A T-cell line from a WAS patient contained two independent DNA alterations, a constitutional frameshift mutation, also present in peripheral blood leukocytes from the patient, and compensatory splice site mutation unique to the cell line.
TextSentencer_T8 1116-1329 Sentence denotes The distribution of eight missense mutations provides valuable information on amino acids which are essential for normal protein function, and suggests that sites in the first two exons are hot-spots for mutation.
T1 0-78 Sentence denotes WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia.
T2 79-213 Sentence denotes The WASP gene has been recently cloned from Xp11.23 and shown to be mutated in three patients with the Wiskott-Aldrich syndrome (WAS).
T3 214-392 Sentence denotes We have developed a screening protocol for identifying WASP gene alterations in genomic DNA and have identified a spectrum of novel mutations in 12 additional unrelated families.
T4 393-485 Sentence denotes These missense, nonsense and frameshift mutations involve eight of the 12 exons of the gene.
T5 486-601 Sentence denotes Two mutations creating premature termination codons were associated with lack of detectable mRNA on Northern blots.
T6 602-876 Sentence denotes Four amino acid substitutions, Leu27Phe, Thr48Ile, Val75Met and Arg477Lys, were found in patients with congenital thrombocytopenia and no clinically evident immune defect indicating that the WASP gene is the site for mutations in X-linked thrombocytopenia as well as in WAS.
T7 877-1115 Sentence denotes A T-cell line from a WAS patient contained two independent DNA alterations, a constitutional frameshift mutation, also present in peripheral blood leukocytes from the patient, and compensatory splice site mutation unique to the cell line.
T8 1116-1329 Sentence denotes The distribution of eight missense mutations provides valuable information on amino acids which are essential for normal protein function, and suggests that sites in the first two exons are hot-spots for mutation.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 0-4 gene:7454 denotes WASP
T1 23-47 disease:C0043194 denotes Wiskott-Aldrich syndrome
T2 0-4 gene:7454 denotes WASP
T3 52-77 disease:C1839163 denotes X-linked thrombocytopenia
R1 T0 T1 associated_with WASP,Wiskott-Aldrich syndrome
R2 T2 T3 associated_with WASP,X-linked thrombocytopenia

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
8528199-0#0#4#gene7454 0-4 gene7454 denotes WASP
8528199-0#23#47#diseaseC0043194 23-47 diseaseC0043194 denotes Wiskott-Aldrich syndrome
8528199-0#52#77#diseaseC1839163 52-77 diseaseC1839163 denotes X-linked thrombocytopenia
8528199-5#191#195#gene7454 793-797 gene7454 denotes WASP
8528199-5#103#130#diseaseC0272278 705-732 diseaseC0272278 denotes congenital thrombocytopenia
0#4#gene745423#47#diseaseC0043194 8528199-0#0#4#gene7454 8528199-0#23#47#diseaseC0043194 associated_with WASP,Wiskott-Aldrich syndrome
0#4#gene745452#77#diseaseC1839163 8528199-0#0#4#gene7454 8528199-0#52#77#diseaseC1839163 associated_with WASP,X-linked thrombocytopenia
191#195#gene7454103#130#diseaseC0272278 8528199-5#191#195#gene7454 8528199-5#103#130#diseaseC0272278 associated_with WASP,congenital thrombocytopenia

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 1018-1023 http://purl.obolibrary.org/obo/UBERON_0000178 denotes blood

PubCasesHPO

Id Subject Object Predicate Lexical cue
TI1 61-77 HP:0001873 denotes thrombocytopenia
AB1 705-732 HP:0001905 denotes congenital thrombocytopenia
AB2 841-857 HP:0001873 denotes thrombocytopenia

PubCasesORDO

Id Subject Object Predicate Lexical cue
TI1 23-47 ORDO:906 denotes Wiskott-Aldrich syndrome
AB1 182-206 ORDO:906 denotes Wiskott-Aldrich syndrome

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 1018-1023 http://purl.obolibrary.org/obo/UBERON_0000178 denotes blood

NCBIDiseaseCorpus

Id Subject Object Predicate Lexical cue
T1 23-47 SpecificDisease:D014923 denotes Wiskott-Aldrich syndrome
T2 52-77 SpecificDisease:OMIM:313900 denotes X-linked thrombocytopenia
T3 182-206 SpecificDisease:D014923 denotes Wiskott-Aldrich syndrome
T4 208-211 SpecificDisease:D014923 denotes WAS
T5 705-732 SpecificDisease:OMIM:313900 denotes congenital thrombocytopenia
T6 832-857 SpecificDisease:OMIM:313900 denotes X-linked thrombocytopenia
T7 872-875 SpecificDisease:D014923 denotes WAS
T8 898-901 Modifier:D014923 denotes WAS

NCBI-Disease-Train

Id Subject Object Predicate Lexical cue database_id
T1810 23-47 SpecificDisease denotes Wiskott-Aldrich syndrome D014923
T1811 52-77 SpecificDisease denotes X-linked thrombocytopenia OMIM:313900
T1812 182-206 SpecificDisease denotes Wiskott-Aldrich syndrome D014923
T1813 208-211 SpecificDisease denotes WAS D014923
T1814 705-732 SpecificDisease denotes congenital thrombocytopenia OMIM:313900
T1815 832-857 SpecificDisease denotes X-linked thrombocytopenia OMIM:313900
T1816 872-875 SpecificDisease denotes WAS D014923
T1817 898-901 Modifier denotes WAS D014923

NCBI-Disease-Corpus-All

Id Subject Object Predicate Lexical cue database_id
T1810 23-47 SpecificDisease denotes Wiskott-Aldrich syndrome D014923
T1811 52-77 SpecificDisease denotes X-linked thrombocytopenia OMIM:313900
T1812 182-206 SpecificDisease denotes Wiskott-Aldrich syndrome D014923
T1813 208-211 SpecificDisease denotes WAS D014923
T1814 705-732 SpecificDisease denotes congenital thrombocytopenia OMIM:313900
T1815 832-857 SpecificDisease denotes X-linked thrombocytopenia OMIM:313900
T1816 872-875 SpecificDisease denotes WAS D014923
T1817 898-901 Modifier denotes WAS D014923

NCBI-Disease-Corpus-2stage-All

Id Subject Object Predicate Lexical cue
T1 23-47 SpecificDisease denotes Wiskott-Aldrich syndrome
T2 52-77 SpecificDisease denotes X-linked thrombocytopenia
T3 182-206 SpecificDisease denotes Wiskott-Aldrich syndrome
T4 208-211 SpecificDisease denotes WAS
T5 705-732 SpecificDisease denotes congenital thrombocytopenia
T6 832-857 SpecificDisease denotes X-linked thrombocytopenia
T7 872-875 SpecificDisease denotes WAS
T8 898-901 SpecificDisease denotes WAS

NCBI-Disease-Corpus-rezarta-All

Id Subject Object Predicate Lexical cue
T1 23-47 SpecificDisease denotes Wiskott-Aldrich syndrome
T2 52-77 SpecificDisease denotes X-linked thrombocytopenia
T3 182-206 SpecificDisease denotes Wiskott-Aldrich syndrome
T4 208-211 SpecificDisease denotes WAS
T5 705-732 SpecificDisease denotes congenital thrombocytopenia
T6 832-857 SpecificDisease denotes X-linked thrombocytopenia
T7 872-875 SpecificDisease denotes WAS
T8 898-901 SpecificDisease denotes WAS

NCBI-Disease-Corpus-4oGuideline-All

Id Subject Object Predicate Lexical cue
T1 23-47 SpecificDisease denotes Wiskott-Aldrich syndrome
T2 52-77 SpecificDisease denotes X-linked thrombocytopenia
T3 182-206 SpecificDisease denotes Wiskott-Aldrich syndrome
T4 716-732 SpecificDisease denotes thrombocytopenia
T5 832-857 SpecificDisease denotes X-linked thrombocytopenia

NCBI-Disease-Corpus-Simple-All

Id Subject Object Predicate Lexical cue
T1 23-47 SpecificDisease denotes Wiskott-Aldrich syndrome
T2 52-77 SpecificDisease denotes X-linked thrombocytopenia
T3 182-206 SpecificDisease denotes Wiskott-Aldrich syndrome
T4 705-732 DiseaseClass denotes congenital thrombocytopenia
T5 832-857 SpecificDisease denotes X-linked thrombocytopenia