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PubMed:1978553 JSONTXT

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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