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PubMed:1867197 JSONTXT

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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