PubMed:1867197
Annnotations
PMID_GLOBAL
| Id | Subject | Object | Predicate | Lexical cue | mondo_id |
|---|---|---|---|---|---|
| T1 | 101-126 | DiseaseOrPhenotypicFeature | denotes | classical phenylketonuria | 0019259 |
| T2 | 128-149 | DiseaseOrPhenotypicFeature | denotes | Hyperphenylalaninemia | 0016543 |
| T3 | 151-154 | DiseaseOrPhenotypicFeature | denotes | HPA | 0016543 |
| T4 | 286-289 | DiseaseOrPhenotypicFeature | denotes | HPA | 0016543 |
| T5 | 417-442 | DiseaseOrPhenotypicFeature | denotes | classical phenylketonuria | 0019259 |
| T6 | 444-447 | DiseaseOrPhenotypicFeature | denotes | PKU | 0009861 |
| T7 | 450-461 | DiseaseOrPhenotypicFeature | denotes | Non-PKU HPA | 0019335 |
| T8 | 454-457 | DiseaseOrPhenotypicFeature | denotes | PKU | 0009861 |
| T9 | 458-461 | DiseaseOrPhenotypicFeature | denotes | HPA | 0016543 |
| T10 | 485-488 | DiseaseOrPhenotypicFeature | denotes | PKU | 0009861 |
| T11 | 568-579 | DiseaseOrPhenotypicFeature | denotes | non-PKU HPA | 0019335 |
| T12 | 572-575 | DiseaseOrPhenotypicFeature | denotes | PKU | 0009861 |
| T13 | 576-579 | DiseaseOrPhenotypicFeature | denotes | HPA | 0016543 |
| T14 | 672-683 | DiseaseOrPhenotypicFeature | denotes | non-PKU HPA | 0019335 |
| T15 | 676-679 | DiseaseOrPhenotypicFeature | denotes | PKU | 0009861 |
| T16 | 680-683 | DiseaseOrPhenotypicFeature | denotes | HPA | 0016543 |
| T17 | 790-793 | DiseaseOrPhenotypicFeature | denotes | PKU | 0009861 |
| T18 | 798-809 | DiseaseOrPhenotypicFeature | denotes | non-PKU HPA | 0019335 |
| T19 | 802-805 | DiseaseOrPhenotypicFeature | denotes | PKU | 0009861 |
| T20 | 806-809 | DiseaseOrPhenotypicFeature | denotes | HPA | 0016543 |
| T21 | 859-870 | DiseaseOrPhenotypicFeature | denotes | non-PKU HPA | 0019335 |
| T22 | 863-866 | DiseaseOrPhenotypicFeature | denotes | PKU | 0009861 |
| T23 | 867-870 | DiseaseOrPhenotypicFeature | denotes | HPA | 0016543 |
| T24 | 915-918 | DiseaseOrPhenotypicFeature | denotes | PKU | 0009861 |
| T25 | 1067-1070 | DiseaseOrPhenotypicFeature | denotes | PKU | 0009861 |
| T26 | 1084-1095 | DiseaseOrPhenotypicFeature | denotes | non-PKU HPA | 0019335 |
| T27 | 1088-1091 | DiseaseOrPhenotypicFeature | denotes | PKU | 0009861 |
| T28 | 1092-1095 | DiseaseOrPhenotypicFeature | denotes | HPA | 0016543 |
| T29 | 1154-1165 | DiseaseOrPhenotypicFeature | denotes | non-PKU HPA | 0019335 |
| T30 | 1158-1161 | DiseaseOrPhenotypicFeature | denotes | PKU | 0009861 |
| T31 | 1162-1165 | DiseaseOrPhenotypicFeature | denotes | HPA | 0016543 |
| T32 | 1240-1243 | DiseaseOrPhenotypicFeature | denotes | PKU | 0009861 |
| T33 | 1317-1320 | DiseaseOrPhenotypicFeature | denotes | PKU | 0009861 |
| T34 | 1386-1397 | DiseaseOrPhenotypicFeature | denotes | non-PKU HPA | 0019335 |
| T35 | 1390-1393 | DiseaseOrPhenotypicFeature | denotes | PKU | 0009861 |
| T36 | 1394-1397 | DiseaseOrPhenotypicFeature | denotes | HPA | 0016543 |
| T37 | 1570-1581 | DiseaseOrPhenotypicFeature | denotes | non-PKU HPA | 0019335 |
| T38 | 1574-1577 | DiseaseOrPhenotypicFeature | denotes | PKU | 0009861 |
| T39 | 1578-1581 | DiseaseOrPhenotypicFeature | denotes | HPA | 0016543 |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 259-284 | gene:5053 | denotes | phenylalanine hydroxylase |
| T1 | 128-149 | disease:C0751435 | denotes | Hyperphenylalaninemia |
| R1 | T0 | T1 | associated_with | phenylalanine hydroxylase,Hyperphenylalaninemia |
DisGeNET5_variant_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 1867197-8#65#70#geners5030858 | 1348-1353 | geners5030858 | denotes | R408W |
| 1867197-8#55#60#geners5030849 | 1338-1343 | geners5030849 | denotes | R261Q |
| 1867197-8#34#37#diseaseC0751434 | 1317-1320 | diseaseC0751434 | denotes | PKU |
| 1867197-8#107#110#diseaseC0751434 | 1390-1393 | diseaseC0751434 | denotes | PKU |
| 1867197-8#111#114#diseaseC0751435 | 1394-1397 | diseaseC0751435 | denotes | HPA |
| 1867197-8#34#37#diseaseC0751434 | 1317-1320 | diseaseC0751434 | denotes | PKU |
| 1867197-8#107#110#diseaseC0751434 | 1390-1393 | diseaseC0751434 | denotes | PKU |
| 1867197-8#111#114#diseaseC0751435 | 1394-1397 | diseaseC0751435 | denotes | HPA |
| 65#70#geners503085834#37#diseaseC0751434 | 1867197-8#65#70#geners5030858 | 1867197-8#34#37#diseaseC0751434 | associated_with | R408W,PKU |
| 65#70#geners5030858107#110#diseaseC0751434 | 1867197-8#65#70#geners5030858 | 1867197-8#107#110#diseaseC0751434 | associated_with | R408W,PKU |
| 65#70#geners5030858111#114#diseaseC0751435 | 1867197-8#65#70#geners5030858 | 1867197-8#111#114#diseaseC0751435 | associated_with | R408W,HPA |
| 65#70#geners503085834#37#diseaseC0751434 | 1867197-8#65#70#geners5030858 | 1867197-8#34#37#diseaseC0751434 | associated_with | R408W,PKU |
| 65#70#geners5030858107#110#diseaseC0751434 | 1867197-8#65#70#geners5030858 | 1867197-8#107#110#diseaseC0751434 | associated_with | R408W,PKU |
| 65#70#geners5030858111#114#diseaseC0751435 | 1867197-8#65#70#geners5030858 | 1867197-8#111#114#diseaseC0751435 | associated_with | R408W,HPA |
| 55#60#geners503084934#37#diseaseC0751434 | 1867197-8#55#60#geners5030849 | 1867197-8#34#37#diseaseC0751434 | associated_with | R261Q,PKU |
| 55#60#geners5030849107#110#diseaseC0751434 | 1867197-8#55#60#geners5030849 | 1867197-8#107#110#diseaseC0751434 | associated_with | R261Q,PKU |
| 55#60#geners5030849111#114#diseaseC0751435 | 1867197-8#55#60#geners5030849 | 1867197-8#111#114#diseaseC0751435 | associated_with | R261Q,HPA |
| 55#60#geners503084934#37#diseaseC0751434 | 1867197-8#55#60#geners5030849 | 1867197-8#34#37#diseaseC0751434 | associated_with | R261Q,PKU |
| 55#60#geners5030849107#110#diseaseC0751434 | 1867197-8#55#60#geners5030849 | 1867197-8#107#110#diseaseC0751434 | associated_with | R261Q,PKU |
| 55#60#geners5030849111#114#diseaseC0751435 | 1867197-8#55#60#geners5030849 | 1867197-8#111#114#diseaseC0751435 | associated_with | R261Q,HPA |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 1867197-4#82#107#gene5053 | 620-645 | gene5053 | denotes | phenylalanine hydroxylase |
| 1867197-4#138#141#diseaseC0751434 | 676-679 | diseaseC0751434 | denotes | PKU |
| 1867197-4#142#145#diseaseC0751435 | 680-683 | diseaseC0751435 | denotes | HPA |
| 82#107#gene5053138#141#diseaseC0751434 | 1867197-4#82#107#gene5053 | 1867197-4#138#141#diseaseC0751434 | associated_with | phenylalanine hydroxylase,PKU |
| 82#107#gene5053142#145#diseaseC0751435 | 1867197-4#82#107#gene5053 | 1867197-4#142#145#diseaseC0751435 | associated_with | phenylalanine hydroxylase,HPA |