PubMed:1682235
Annnotations
DisGeNET5_variant_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 1682235-5#63#68#geners5030858 | 659-664 | geners5030858 | denotes | R408W |
| 1682235-5#142#145#diseaseC0031485 | 738-741 | diseaseC0031485 | denotes | PKU |
| 63#68#geners5030858142#145#diseaseC0031485 | 1682235-5#63#68#geners5030858 | 1682235-5#142#145#diseaseC0031485 | associated_with | R408W,PKU |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 1682235-1#56#81#gene5053 | 154-179 | gene5053 | denotes | phenylalanine hydroxylase |
| 1682235-1#83#86#gene5053 | 181-184 | gene5053 | denotes | PAH |
| 1682235-1#144#159#diseaseC0031485 | 242-257 | diseaseC0031485 | denotes | phenylketonuria |
| 1682235-1#161#164#diseaseC0031485 | 259-262 | diseaseC0031485 | denotes | PKU |
| 56#81#gene5053144#159#diseaseC0031485 | 1682235-1#56#81#gene5053 | 1682235-1#144#159#diseaseC0031485 | associated_with | phenylalanine hydroxylase,phenylketonuria |
| 56#81#gene5053161#164#diseaseC0031485 | 1682235-1#56#81#gene5053 | 1682235-1#161#164#diseaseC0031485 | associated_with | phenylalanine hydroxylase,PKU |
| 83#86#gene5053144#159#diseaseC0031485 | 1682235-1#83#86#gene5053 | 1682235-1#144#159#diseaseC0031485 | associated_with | PAH,phenylketonuria |
| 83#86#gene5053161#164#diseaseC0031485 | 1682235-1#83#86#gene5053 | 1682235-1#161#164#diseaseC0031485 | associated_with | PAH,PKU |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 154-179 | gene:5053 | denotes | phenylalanine hydroxylase |
| T1 | 242-262 | disease:C0031485 | denotes | phenylketonuria (PKU |
| T2 | 154-179 | gene:5053 | denotes | phenylalanine hydroxylase |
| T3 | 242-262 | disease:C0751434 | denotes | phenylketonuria (PKU |
| T4 | 181-184 | gene:5053 | denotes | PAH |
| T5 | 242-262 | disease:C0031485 | denotes | phenylketonuria (PKU |
| T6 | 181-184 | gene:5053 | denotes | PAH |
| T7 | 242-262 | 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 |