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PubMed:3265398 JSONTXT

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DisGeNET

Id Subject Object Predicate Lexical cue
T0 6-52 gene:3251 denotes hypoxanthine-guanine phosphoribosyltransferase
T1 131-151 disease:C0023374 denotes Lesch-Nyhan syndrome
T2 6-52 gene:3251 denotes hypoxanthine-guanine phosphoribosyltransferase
T3 153-164 disease:C0023374 denotes HPRTMidland
T4 210-256 gene:3251 denotes hypoxanthine-guanine phosphoribosyltransferase
T5 300-320 disease:C0023374 denotes Lesch-Nyhan syndrome
T6 258-262 gene:3251 denotes HPRT
T7 300-320 disease:C0023374 denotes Lesch-Nyhan syndrome
R4 T6 T7 associated_with HPRT,Lesch-Nyhan syndrome
R1 T0 T1 associated_with hypoxanthine-guanine phosphoribosyltransferase,Lesch-Nyhan syndrome
R2 T2 T3 associated_with hypoxanthine-guanine phosphoribosyltransferase,HPRTMidland
R3 T4 T5 associated_with hypoxanthine-guanine phosphoribosyltransferase,Lesch-Nyhan syndrome

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
3265398-7#63#96#geners137852483 876-909 geners137852483 denotes valine to aspartic acid at aa 130
3265398-7#46#57#diseaseC0023374 859-870 diseaseC0023374 denotes HPRTMidland
63#96#geners13785248346#57#diseaseC0023374 3265398-7#63#96#geners137852483 3265398-7#46#57#diseaseC0023374 associated_with valine to aspartic acid at aa 130,HPRTMidland

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
3265398-0#6#52#gene3251 6-52 gene3251 denotes hypoxanthine-guanine phosphoribosyltransferase
3265398-0#131#151#diseaseC0023374 131-151 diseaseC0023374 denotes Lesch-Nyhan syndrome
3265398-0#153#164#diseaseC0023374 153-164 diseaseC0023374 denotes HPRTMidland
6#52#gene3251131#151#diseaseC0023374 3265398-0#6#52#gene3251 3265398-0#131#151#diseaseC0023374 associated_with hypoxanthine-guanine phosphoribosyltransferase,Lesch-Nyhan syndrome
6#52#gene3251153#164#diseaseC0023374 3265398-0#6#52#gene3251 3265398-0#153#164#diseaseC0023374 associated_with hypoxanthine-guanine phosphoribosyltransferase,HPRTMidland