PubMed:1737856
Annnotations
PMID_GLOBAL
| Id | Subject | Object | Predicate | Lexical cue | mondo_id |
|---|---|---|---|---|---|
| T1 | 11-35 | DiseaseOrPhenotypicFeature | denotes | erythropoietic porphyria | 0009902 |
| T2 | 141-165 | DiseaseOrPhenotypicFeature | denotes | erythropoietic porphyria | 0009902 |
| T3 | 167-170 | DiseaseOrPhenotypicFeature | denotes | CEP | 0009902 |
| T4 | 593-596 | DiseaseOrPhenotypicFeature | denotes | CEP | 0009902 |
| T5 | 1392-1395 | DiseaseOrPhenotypicFeature | denotes | CEP | 0009902 |
| T6 | 1413-1416 | DiseaseOrPhenotypicFeature | denotes | CEP | 0009902 |
| T7 | 1751-1770 | DiseaseOrPhenotypicFeature | denotes | inherited porphyria | 0019142 |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 130-165 | gene:7390 | denotes | Congenital erythropoietic porphyria |
| T1 | 167-170 | disease:C0162530 | denotes | CEP |
| T2 | 281-293 | gene:7390 | denotes | URO-synthase |
| T3 | 167-170 | disease:C0162530 | denotes | CEP |
| R1 | T0 | T1 | associated_with | Congenital erythropoietic porphyria,CEP |
| R2 | T2 | T3 | associated_with | URO-synthase,CEP |
PubmedHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 301-320 | HP_0000007 | denotes | autosomal recessive |
| T2 | 447-468 | HP_0000951 | denotes | cutaneous involvement |
DisGeNET5_variant_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 1737856-7#4#8#geners121908012 | 1343-1347 | geners121908012 | denotes | C73R |
| 1737856-7#53#56#diseaseC0162530 | 1392-1395 | diseaseC0162530 | denotes | CEP |
| 1737856-7#74#77#diseaseC0162530 | 1413-1416 | diseaseC0162530 | denotes | CEP |
| 4#8#geners12190801253#56#diseaseC0162530 | 1737856-7#4#8#geners121908012 | 1737856-7#53#56#diseaseC0162530 | associated_with | C73R,CEP |
| 4#8#geners12190801274#77#diseaseC0162530 | 1737856-7#4#8#geners121908012 | 1737856-7#74#77#diseaseC0162530 | associated_with | C73R,CEP |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 1737856-1#0#35#gene7390 | 130-165 | gene7390 | denotes | Congenital erythropoietic porphyria |
| 1737856-1#151#163#gene7390 | 281-293 | gene7390 | denotes | URO-synthase |
| 1737856-1#37#40#diseaseC0162530 | 167-170 | diseaseC0162530 | denotes | CEP |
| 0#35#gene739037#40#diseaseC0162530 | 1737856-1#0#35#gene7390 | 1737856-1#37#40#diseaseC0162530 | associated_with | Congenital erythropoietic porphyria,CEP |
| 151#163#gene739037#40#diseaseC0162530 | 1737856-1#151#163#gene7390 | 1737856-1#37#40#diseaseC0162530 | associated_with | URO-synthase,CEP |