PubMed:2071149
Annnotations
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 148-173 | gene:5053 | denotes | phenylalanine hydroxylase |
| T1 | 204-224 | disease:C0031485 | denotes | phenylketonuria (PKU |
| T2 | 148-173 | gene:5053 | denotes | phenylalanine hydroxylase |
| T3 | 204-224 | disease:C0751434 | denotes | phenylketonuria (PKU |
| T4 | 175-178 | gene:5053 | denotes | PAH |
| T5 | 204-224 | disease:C0031485 | denotes | phenylketonuria (PKU |
| T6 | 175-178 | gene:5053 | denotes | PAH |
| T7 | 204-224 | 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 |
|---|---|---|---|---|
| 2071149-2#92#97#geners62508588 | 340-345 | geners62508588 | denotes | R243Q |
| 2071149-2#127#130#diseaseC0031485 | 375-378 | diseaseC0031485 | denotes | PKU |
| 2071149-3#93#98#geners62514927 | 499-504 | geners62514927 | denotes | Y204C |
| 2071149-3#138#141#diseaseC0031485 | 544-547 | diseaseC0031485 | denotes | PKU |
| 92#97#geners62508588127#130#diseaseC0031485 | 2071149-2#92#97#geners62508588 | 2071149-2#127#130#diseaseC0031485 | associated_with | R243Q,PKU |
| 93#98#geners62514927138#141#diseaseC0031485 | 2071149-3#93#98#geners62514927 | 2071149-3#138#141#diseaseC0031485 | associated_with | Y204C,PKU |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 2071149-1#30#55#gene5053 | 148-173 | gene5053 | denotes | phenylalanine hydroxylase |
| 2071149-1#57#60#gene5053 | 175-178 | gene5053 | denotes | PAH |
| 2071149-1#86#101#diseaseC0031485 | 204-219 | diseaseC0031485 | denotes | phenylketonuria |
| 2071149-1#103#106#diseaseC0031485 | 221-224 | diseaseC0031485 | denotes | PKU |
| 30#55#gene505386#101#diseaseC0031485 | 2071149-1#30#55#gene5053 | 2071149-1#86#101#diseaseC0031485 | associated_with | phenylalanine hydroxylase,phenylketonuria |
| 30#55#gene5053103#106#diseaseC0031485 | 2071149-1#30#55#gene5053 | 2071149-1#103#106#diseaseC0031485 | associated_with | phenylalanine hydroxylase,PKU |
| 57#60#gene505386#101#diseaseC0031485 | 2071149-1#57#60#gene5053 | 2071149-1#86#101#diseaseC0031485 | associated_with | PAH,phenylketonuria |
| 57#60#gene5053103#106#diseaseC0031485 | 2071149-1#57#60#gene5053 | 2071149-1#103#106#diseaseC0031485 | associated_with | PAH,PKU |