PubMed:1679030
Annnotations
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 53-56 | gene:5053 | denotes | PAH |
| T1 | 94-109 | disease:C0031485 | denotes | phenylketonuria |
| T2 | 53-56 | gene:5053 | denotes | PAH |
| T3 | 94-109 | disease:C0751434 | denotes | phenylketonuria |
| T4 | 183-208 | gene:5053 | denotes | phenylalanine hydroxylase |
| T5 | 339-359 | disease:C0751434 | denotes | phenylketonuria (PKU |
| T6 | 183-208 | gene:5053 | denotes | phenylalanine hydroxylase |
| T7 | 339-359 | disease:C0031485 | denotes | phenylketonuria (PKU |
| T8 | 210-213 | gene:5053 | denotes | PAH |
| T9 | 339-359 | disease:C0031485 | denotes | phenylketonuria (PKU |
| T10 | 210-213 | gene:5053 | denotes | PAH |
| T11 | 339-359 | disease:C0751434 | denotes | phenylketonuria (PKU |
| R1 | T0 | T1 | associated_with | PAH,phenylketonuria |
| R2 | T2 | T3 | associated_with | PAH,phenylketonuria |
| R3 | T4 | T5 | associated_with | phenylalanine hydroxylase,phenylketonuria (PKU |
| R4 | T6 | T7 | associated_with | phenylalanine hydroxylase,phenylketonuria (PKU |
| R5 | T8 | T9 | associated_with | PAH,phenylketonuria (PKU |
| R6 | T10 | T11 | associated_with | PAH,phenylketonuria (PKU |
DisGeNET5_variant_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 1679030-3#82#94#geners5030841 | 632-644 | geners5030841 | denotes | Leu48----Ser |
| 1679030-3#123#126#diseaseC0031485 | 673-676 | diseaseC0031485 | denotes | PKU |
| 1679030-3#181#184#diseaseC0031485 | 731-734 | diseaseC0031485 | denotes | PKU |
| 82#94#geners5030841123#126#diseaseC0031485 | 1679030-3#82#94#geners5030841 | 1679030-3#123#126#diseaseC0031485 | associated_with | Leu48----Ser,PKU |
| 82#94#geners5030841181#184#diseaseC0031485 | 1679030-3#82#94#geners5030841 | 1679030-3#181#184#diseaseC0031485 | associated_with | Leu48----Ser,PKU |