PubMed:2569949
Annnotations
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 |