PubMed:10233647
Annnotations
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 12-18 | gene:1294 | denotes | COL7A1 |
| T1 | 62-104 | disease:C0079474 | denotes | recessive dystrophic epidermolysis bullosa |
| T2 | 147-153 | gene:1294 | denotes | COL7A1 |
| T3 | 177-209 | disease:C0079294 | denotes | dystrophic epidermolysis bullosa |
| R1 | T0 | T1 | associated_with | COL7A1,recessive dystrophic epidermolysis bullosa |
| R2 | T2 | T3 | associated_with | COL7A1,dystrophic epidermolysis bullosa |
DisGeNET5_variant_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 10233647-0#29#35#geners143457874 | 29-35 | geners143457874 | denotes | R2814X |
| 10233647-0#62#104#diseaseC0079474 | 62-104 | diseaseC0079474 | denotes | recessive dystrophic epidermolysis bullosa |
| 29#35#geners14345787462#104#diseaseC0079474 | 10233647-0#29#35#geners143457874 | 10233647-0#62#104#diseaseC0079474 | associated_with | R2814X,recessive dystrophic epidermolysis bullosa |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 10233647-5#29#35#gene1294 | 752-758 | gene1294 | denotes | COL7A1 |
| 10233647-5#128#131#diseaseC0079294 | 851-854 | diseaseC0079294 | denotes | DEB |
| 29#35#gene1294128#131#diseaseC0079294 | 10233647-5#29#35#gene1294 | 10233647-5#128#131#diseaseC0079294 | associated_with | COL7A1,DEB |