PubMed:1978553
Annnotations
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 92-117 | gene:5053 | denotes | phenylalanine hydroxylase |
| T1 | 217-237 | disease:C0031485 | denotes | phenylketonuria (PKU |
| T2 | 92-117 | gene:5053 | denotes | phenylalanine hydroxylase |
| T3 | 217-237 | disease:C0751434 | denotes | phenylketonuria (PKU |
| T4 | 119-122 | gene:5053 | denotes | PAH |
| T5 | 217-237 | disease:C0031485 | denotes | phenylketonuria (PKU |
| T6 | 119-122 | gene:5053 | denotes | PAH |
| T7 | 217-237 | 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 |
DisGeNET5_variant_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 1978553-5#88#102#geners62514952 | 673-687 | geners62514952 | denotes | Gly 272 to Ter |
| 1978553-5#160#163#diseaseC0031485 | 745-748 | diseaseC0031485 | denotes | PKU |
| 88#102#geners62514952160#163#diseaseC0031485 | 1978553-5#88#102#geners62514952 | 1978553-5#160#163#diseaseC0031485 | associated_with | Gly 272 to Ter,PKU |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 1978553-1#13#38#gene5053 | 92-117 | gene5053 | denotes | phenylalanine hydroxylase |
| 1978553-1#40#43#gene5053 | 119-122 | gene5053 | denotes | PAH |
| 1978553-1#138#153#diseaseC0031485 | 217-232 | diseaseC0031485 | denotes | phenylketonuria |
| 1978553-1#155#158#diseaseC0031485 | 234-237 | diseaseC0031485 | denotes | PKU |
| 13#38#gene5053138#153#diseaseC0031485 | 1978553-1#13#38#gene5053 | 1978553-1#138#153#diseaseC0031485 | associated_with | phenylalanine hydroxylase,phenylketonuria |
| 13#38#gene5053155#158#diseaseC0031485 | 1978553-1#13#38#gene5053 | 1978553-1#155#158#diseaseC0031485 | associated_with | phenylalanine hydroxylase,PKU |
| 40#43#gene5053138#153#diseaseC0031485 | 1978553-1#40#43#gene5053 | 1978553-1#138#153#diseaseC0031485 | associated_with | PAH,phenylketonuria |
| 40#43#gene5053155#158#diseaseC0031485 | 1978553-1#40#43#gene5053 | 1978553-1#155#158#diseaseC0031485 | associated_with | PAH,PKU |