PubMed:10073910
Annnotations
PubTator4TogoVar
| Id | Subject | Object | Predicate | Lexical cue | proteinmutation |
|---|---|---|---|---|---|
| 10073910_0 | 577-582 | ProteinMutation | denotes | E364X | rs121965076 |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 10073910-1#49#78#gene2184 | 149-178 | gene2184 | denotes | fumarylacetoacetate hydrolase |
| 10073910-1#0#12#diseaseC0268483 | 100-112 | diseaseC0268483 | denotes | Tyrosinaemia |
| 49#78#gene21840#12#diseaseC0268483 | 10073910-1#49#78#gene2184 | 10073910-1#0#12#diseaseC0268483 | associated_with | fumarylacetoacetate hydrolase,Tyrosinaemia |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 149-178 | gene:2184 | denotes | fumarylacetoacetate hydrolase |
| T1 | 100-119 | disease:C0268490 | denotes | Tyrosinaemia type I |
| R1 | T0 | T1 | associated_with | fumarylacetoacetate hydrolase,Tyrosinaemia type I |