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PubMed:17994377 JSONTXT

Annnotations TAB JSON ListView MergeView

DisGeNET

Id Subject Object Predicate Lexical cue
T0 165-176 gene:3043 denotes beta-globin
T1 125-141 disease:C0005283 denotes beta-thalassemia
R1 T0 T1 associated_with beta-globin,beta-thalassemia

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
17994377-1#58#69#gene3043 165-176 gene3043 denotes beta-globin
17994377-1#18#34#diseaseC0005283 125-141 diseaseC0005283 denotes beta-thalassemia
58#69#gene304318#34#diseaseC0005283 17994377-1#58#69#gene3043 17994377-1#18#34#diseaseC0005283 associated_with beta-globin,beta-thalassemia

DisGeNet-2017-sample

Id Subject Object Predicate Lexical cue
T1893 165-176 gene:3043 denotes beta-globin
T1894 125-141 disease:C0005283 denotes beta-thalassemia
R1 T1893 T1894 associated_with beta-globin,beta-thalassemia

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 125-141 ORDO:848 denotes beta-thalassemia

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-106 Sentence denotes Thalassemia intermedia due to a novel mutation in the second intervening sequence of the beta-globin gene.
TextSentencer_T2 107-212 Sentence denotes We describe a new beta-thalassemia (thal) mutation in the beta-globin gene of an 8-year-old Moroccan boy.
TextSentencer_T3 213-339 Sentence denotes This homozygous mutation produces a phenotype of thalassemia intermedia and is associated with the Mediterranean haplotype IX.
TextSentencer_T4 340-505 Sentence denotes We discuss the pathophysiological consequences of this mutation which is located near the 3' end of the second intervening sequence (IVS-II) of the beta-globin gene.
T1 0-106 Sentence denotes Thalassemia intermedia due to a novel mutation in the second intervening sequence of the beta-globin gene.
T2 107-212 Sentence denotes We describe a new beta-thalassemia (thal) mutation in the beta-globin gene of an 8-year-old Moroccan boy.
T3 213-339 Sentence denotes This homozygous mutation produces a phenotype of thalassemia intermedia and is associated with the Mediterranean haplotype IX.
T4 340-505 Sentence denotes We discuss the pathophysiological consequences of this mutation which is located near the 3' end of the second intervening sequence (IVS-II) of the beta-globin gene.