| Disease ID | Disease name | Source of annotation with GNPAT | 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 |
|---|---|---|
| Peroxisome | hsa04146 | 6.34 |
| Glycerophospholipid metabolism | hsa00564 | 6.15 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Peroxisomal lipid metabolism | R-HSA-390918 | 8.59 |
| Phospholipid metabolism | R-HSA-1483257 | 5.83 |
| Synthesis of PA | R-HSA-1483166 | 8.18 |
| Glycerophospholipid biosynthesis | R-HSA-1483206 | 6.46 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Metabolism of lipids and lipoproteins | R-HSA-556833 | 3.79 |
| Plasmalogen biosynthesis | R-HSA-75896 | 10.98 |
| GO term | GO ID | GO IC |
|---|---|---|
| hydrolase activity | GO:0016787 | 1.9 |
| CoA hydrolase activity | GO:0016289 | 6.69 |
| transferase activity, transferring acyl groups other than amino-acyl groups | GO:0016747 | 4.37 |
| thiolester hydrolase activity | GO:0016790 | 6.18 |
| glycerone-phosphate O-acyltransferase activity | GO:0016287 | 9.74 |
| acetyltransferase activity | GO:0016407 | 5.1 |
| hydrolase activity, acting on ester bonds | GO:0016788 | 3.1 |
| catalytic activity | GO:0003824 | 1.05 |
| transferase activity | GO:0016740 | 1.95 |
| palmitoyl-CoA hydrolase activity | GO:0016290 | 7.25 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| O-acyltransferase activity | GO:0008374 | 5.85 |
| transferase activity, transferring acyl groups | GO:0016746 | 4.2 |
| receptor binding | GO:0005102 | 2.43 |
| acyl-CoA hydrolase activity | GO:0047617 | 6.79 |
| O-acetyltransferase activity | GO:0016413 | 7.79 |