PubMed:3265398
Annnotations
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 |