PubMed:2492100
Annnotations
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 31-63 | gene:4942 | denotes | ornithine delta-aminotransferase |
| T1 | 70-110 | disease:C0018425 | denotes | gyrate atrophy of the choroid and retina |
| T2 | 234-266 | gene:4942 | denotes | ornithine delta-aminotransferase |
| T3 | 163-165 | disease:C0018425 | denotes | GA |
| T4 | 234-266 | gene:4942 | denotes | ornithine delta-aminotransferase |
| T5 | 121-161 | disease:C0018425 | denotes | Gyrate atrophy of the choroid and retina |
| T6 | 268-271 | gene:4942 | denotes | OAT |
| T7 | 121-161 | disease:C0018425 | denotes | Gyrate atrophy of the choroid and retina |
| R1 | T0 | T1 | associated_with | ornithine delta-aminotransferase,gyrate atrophy of the choroid and retina |
| R2 | T2 | T3 | associated_with | ornithine delta-aminotransferase,GA |
| R3 | T4 | T5 | associated_with | ornithine delta-aminotransferase,Gyrate atrophy of the choroid and retina |
| R4 | T6 | T7 | associated_with | OAT,Gyrate atrophy of the choroid and retina |
PubmedHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 183-209 | HP_0200065 | denotes | chorioretinal degeneration |
DisGeNET5_variant_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 2492100-7#56#61#geners121965040 | 1079-1084 | geners121965040 | denotes | R180T |
| 2492100-7#87#89#diseaseC0018425 | 1110-1112 | diseaseC0018425 | denotes | GA |
| 56#61#geners12196504087#89#diseaseC0018425 | 2492100-7#56#61#geners121965040 | 2492100-7#87#89#diseaseC0018425 | associated_with | R180T,GA |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 2492100-0#31#63#gene4942 | 31-63 | gene4942 | denotes | ornithine delta-aminotransferase |
| 2492100-0#70#110#diseaseC0018425 | 70-110 | diseaseC0018425 | denotes | gyrate atrophy of the choroid and retina |
| 31#63#gene494270#110#diseaseC0018425 | 2492100-0#31#63#gene4942 | 2492100-0#70#110#diseaseC0018425 | associated_with | ornithine delta-aminotransferase,gyrate atrophy of the choroid and retina |