Disease ID | Disease name | Source of annotation with RPIA | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
608611 | RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY | OMIM, HUMSAVAR | link to OMIM | 1 | RPIA |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Biosynthesis of amino acids | hsa01230 | 6.58 |
Pentose phosphate pathway | hsa00030 | 7.86 |
Metabolic pathways | hsa01100 | 2.49 |
Carbon metabolism | hsa01200 | 6.03 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Metabolism | R-HSA-1430728 | 2.34 |
Metabolism of carbohydrates | R-HSA-71387 | 4.93 |
Pentose phosphate pathway (hexose monophosphate shunt) | R-HSA-71336 | 10.18 |
GO term | GO ID | GO IC |
---|---|---|
binding | GO:0005488 | 0.18 |
isomerase activity | GO:0016853 | 4.62 |
carbohydrate binding | GO:0030246 | 4.17 |
small molecule binding | GO:0036094 | 1.89 |
catalytic activity | GO:0003824 | 1.05 |
monosaccharide binding | GO:0048029 | 5.85 |
protein binding | GO:0005515 | 0.46 |
ribose-5-phosphate isomerase activity | GO:0004751 | 9.74 |
intramolecular oxidoreductase activity, interconverting aldoses and ketoses | GO:0016861 | 7.25 |
intramolecular oxidoreductase activity | GO:0016860 | 5.75 |