| Disease ID | Disease name | Source of annotation with AGPS | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS215100 | RHIZOMELIC CHONDRODYSPLASIA PUNCTATA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 4 | GNPAT, PEX5, PEX7, AGPS |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Metabolic pathways | hsa01100 | 2.49 |
| Ether lipid metabolism | hsa00565 | 7.28 |
| Peroxisome | hsa04146 | 6.34 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Metabolism of lipids and lipoproteins | R-HSA-556833 | 3.79 |
| Peroxisomal lipid metabolism | R-HSA-390918 | 8.59 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Plasmalogen biosynthesis | R-HSA-75896 | 10.98 |
| GO term | GO ID | GO IC |
|---|---|---|
| coenzyme binding | GO:0050662 | 4.53 |
| flavin adenine dinucleotide binding | GO:0050660 | 5.41 |
| oxidoreductase activity, acting on CH-OH group of donors | GO:0016614 | 4.83 |
| catalytic activity | GO:0003824 | 1.05 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| nucleoside phosphate binding | GO:1901265 | 1.96 |
| nucleotide binding | GO:0000166 | 1.96 |
| small molecule binding | GO:0036094 | 1.89 |
| GO:0008609 | 9.74 | |
| transferase activity | GO:0016740 | 1.95 |
| cofactor binding | GO:0048037 | 4.16 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| transferase activity, transferring alkyl or aryl (other than methyl) groups | GO:0016765 | 5.58 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| FAD binding | GO:0071949 | 7.03 |
| oxidoreductase activity | GO:0016491 | 3.12 |