Disease ID | Disease name | Source of annotation with UROS | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
263700 | PORPHYRIA, CONGENITAL ERYTHROPOIETIC | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | UROS |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Porphyrin and chlorophyll metabolism | hsa00860 | 7.41 |
Metabolic pathways | hsa01100 | 2.49 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Heme biosynthesis | R-HSA-189451 | 9.52 |
Metabolism | R-HSA-1430728 | 2.34 |
Metabolism of porphyrins | R-HSA-189445 | 8.89 |
GO term | GO ID | GO IC |
---|---|---|
carbon-oxygen lyase activity | GO:0016835 | 5.46 |
hydro-lyase activity | GO:0016836 | 5.81 |
catalytic activity | GO:0003824 | 1.05 |
cofactor binding | GO:0048037 | 4.16 |
binding | GO:0005488 | 0.18 |
lyase activity | GO:0016829 | 4.53 |
uroporphyrinogen-III synthase activity | GO:0004852 | 9.05 |