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PubMed:2569949 JSONTXT

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DisGeNET

Id Subject Object Predicate Lexical cue
T0 160-185 gene:5053 denotes phenylalanine hydroxylase
T1 215-235 disease:C0031485 denotes phenylketonuria (PKU
T2 160-185 gene:5053 denotes phenylalanine hydroxylase
T3 215-235 disease:C0751434 denotes phenylketonuria (PKU
T4 187-190 gene:5053 denotes PAH
T5 215-235 disease:C0031485 denotes phenylketonuria (PKU
T6 187-190 gene:5053 denotes PAH
T7 215-235 disease:C0751434 denotes phenylketonuria (PKU
T8 272-275 gene:5053 denotes PAH
T9 215-235 disease:C0031485 denotes phenylketonuria (PKU
T10 272-275 gene:5053 denotes PAH
T11 215-235 disease:C0751434 denotes phenylketonuria (PKU
R1 T0 T1 associated_with phenylalanine hydroxylase,phenylketonuria (PKU
R2 T2 T3 associated_with phenylalanine hydroxylase,phenylketonuria (PKU
R3 T4 T5 associated_with PAH,phenylketonuria (PKU
R4 T6 T7 associated_with PAH,phenylketonuria (PKU
R5 T8 T9 associated_with PAH,phenylketonuria (PKU
R6 T10 T11 associated_with PAH,phenylketonuria (PKU

DisGeNet-2017-sample

Id Subject Object Predicate Lexical cue
T580 26-51 gene:5053 denotes phenylalanine hydroxylase
T581 68-83 disease:C0031485 denotes phenylketonuria
R1 T580 T581 associated_with phenylalanine hydroxylase,phenylketonuria
R2 T580 T581 associated_with phenylalanine hydroxylase,phenylketonuria

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-93 Sentence denotes Haplotype analysis of the phenylalanine hydroxylase gene in Turkish phenylketonuria families.
TextSentencer_T2 94-246 Sentence denotes We have estimated the haplotype distribution of mutant and normal phenylalanine hydroxylase (PAH) alleles for 17 Turkish phenylketonuria (PKU) families:
TextSentencer_T3 247-304 Sentence denotes 20 normal and 27 mutated PAH alleles could be identified.
TextSentencer_T4 305-486 Sentence denotes Of the latter, the most prevalent were associated with haplotype 6 (29.6%), 1 (18.5%) and 36 (11.1%), while the normal alleles were preferentially associated with haplotype 1 (20%).
TextSentencer_T5 487-565 Sentence denotes Of the 19 different haplotypes observed, 5 have not been described previously.
TextSentencer_T6 566-662 Sentence denotes The haplotype distribution differed significantly from that of the Northern European population.
TextSentencer_T7 663-727 Sentence denotes Two of the eight polymorphic sites were in association with PKU.
TextSentencer_T8 728-795 Sentence denotes No deletions of exon sequences were found in the families analysed.
T1 0-93 Sentence denotes Haplotype analysis of the phenylalanine hydroxylase gene in Turkish phenylketonuria families.
T2 94-246 Sentence denotes We have estimated the haplotype distribution of mutant and normal phenylalanine hydroxylase (PAH) alleles for 17 Turkish phenylketonuria (PKU) families:
T3 247-304 Sentence denotes 20 normal and 27 mutated PAH alleles could be identified.
T4 305-486 Sentence denotes Of the latter, the most prevalent were associated with haplotype 6 (29.6%), 1 (18.5%) and 36 (11.1%), while the normal alleles were preferentially associated with haplotype 1 (20%).
T5 487-565 Sentence denotes Of the 19 different haplotypes observed, 5 have not been described previously.
T6 566-662 Sentence denotes The haplotype distribution differed significantly from that of the Northern European population.
T7 663-727 Sentence denotes Two of the eight polymorphic sites were in association with PKU.
T8 728-795 Sentence denotes No deletions of exon sequences were found in the families analysed.

NCBIDiseaseCorpus

Id Subject Object Predicate Lexical cue
T1 68-83 Modifier:D010661 denotes phenylketonuria
T2 215-230 Modifier:D010661 denotes phenylketonuria
T3 232-235 Modifier:D010661 denotes PKU
T4 723-726 SpecificDisease:D010661 denotes PKU

NCBI-Disease-Train

Id Subject Object Predicate Lexical cue database_id
T2991 68-83 Modifier denotes phenylketonuria D010661
T2992 215-230 Modifier denotes phenylketonuria D010661
T2993 232-235 Modifier denotes PKU D010661
T2994 723-726 SpecificDisease denotes PKU D010661

NCBI-Disease-Corpus-All

Id Subject Object Predicate Lexical cue database_id
T2991 68-83 Modifier denotes phenylketonuria D010661
T2992 215-230 Modifier denotes phenylketonuria D010661
T2993 232-235 Modifier denotes PKU D010661
T2994 723-726 SpecificDisease denotes PKU D010661

NCBI-Disease-Corpus-2stage-All

Id Subject Object Predicate Lexical cue
T1 68-83 Modifier denotes phenylketonuria
T2 215-230 Modifier denotes phenylketonuria
T3 232-235 SpecificDisease denotes PKU
T4 723-726 SpecificDisease denotes PKU

NCBI-Disease-Corpus-rezarta-All

Id Subject Object Predicate Lexical cue
T1 68-83 Modifier denotes phenylketonuria
T2 215-230 Modifier denotes phenylketonuria
T3 232-235 SpecificDisease denotes PKU
T4 723-726 SpecificDisease denotes PKU

NCBI-Disease-Corpus-4oGuideline-All

Id Subject Object Predicate Lexical cue
T1 68-83 SpecificDisease denotes phenylketonuria
T2 215-236 SpecificDisease denotes phenylketonuria (PKU)
T3 723-726 SpecificDisease denotes PKU

NCBI-Disease-Corpus-Simple-All

Id Subject Object Predicate Lexical cue
T1 68-83 SpecificDisease denotes phenylketonuria
T2 215-230 SpecificDisease denotes phenylketonuria
T3 232-235 CompositeMention denotes PKU
T4 723-726 CompositeMention denotes PKU