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PubMed:9450907 JSONTXT

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DisGeNET

Id Subject Object Predicate Lexical cue
T0 211-236 gene:5053 denotes phenylalanine hydroxylase
T1 152-173 disease:C0751435 denotes Hyperphenylalaninemia
T2 211-236 gene:5053 denotes phenylalanine hydroxylase
T3 175-178 disease:C0751435 denotes HPA
R1 T0 T1 associated_with phenylalanine hydroxylase,Hyperphenylalaninemia
R2 T2 T3 associated_with phenylalanine hydroxylase,HPA

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
9450907-6#272#276#geners104894280 1151-1155 geners104894280 denotes D96N
9450907-6#219#223#geners104894275 1098-1102 geners104894275 denotes N52S
9450907-6#259#263#geners104894276 1138-1142 geners104894276 denotes P87S
9450907-6#232#236#geners104894277 1111-1115 geners104894277 denotes V56M
9450907-6#289#294#geners200712908 1168-1173 geners200712908 denotes T106M
9450907-6#159#162#diseaseC0751435 1038-1041 diseaseC0751435 denotes HPA
272#276#geners104894280159#162#diseaseC0751435 9450907-6#272#276#geners104894280 9450907-6#159#162#diseaseC0751435 associated_with D96N,HPA
219#223#geners104894275159#162#diseaseC0751435 9450907-6#219#223#geners104894275 9450907-6#159#162#diseaseC0751435 associated_with N52S,HPA
259#263#geners104894276159#162#diseaseC0751435 9450907-6#259#263#geners104894276 9450907-6#159#162#diseaseC0751435 associated_with P87S,HPA
232#236#geners104894277159#162#diseaseC0751435 9450907-6#232#236#geners104894277 9450907-6#159#162#diseaseC0751435 associated_with V56M,HPA
289#294#geners200712908159#162#diseaseC0751435 9450907-6#289#294#geners200712908 9450907-6#159#162#diseaseC0751435 associated_with T106M,HPA

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
9450907-1#59#84#gene5053 211-236 gene5053 denotes phenylalanine hydroxylase
9450907-1#0#21#diseaseC0751435 152-173 diseaseC0751435 denotes Hyperphenylalaninemia
9450907-1#23#26#diseaseC0751435 175-178 diseaseC0751435 denotes HPA
59#84#gene50530#21#diseaseC0751435 9450907-1#59#84#gene5053 9450907-1#0#21#diseaseC0751435 associated_with phenylalanine hydroxylase,Hyperphenylalaninemia
59#84#gene505323#26#diseaseC0751435 9450907-1#59#84#gene5053 9450907-1#23#26#diseaseC0751435 associated_with phenylalanine hydroxylase,HPA