| Disease ID | Disease name | Source of annotation with PSAP | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 611722 | KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY | OMIM | link to OMIM | 1 | PSAP |
| 249900 | METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY | OMIM, HUMSAVAR | link to OMIM | 1 | PSAP |
| 610539 | GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY | OMIM, HUMSAVAR | link to OMIM | 1 | PSAP |
| 611721 | COMBINED SAPOSIN DEFICIENCY | ClinVar, OMIM | link to OMIM | 1 | PSAP |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Lysosome | hsa04142 | 5.78 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Glycosphingolipid metabolism | R-HSA-1660662 | 7.62 |
| Signaling by GPCR | R-HSA-372790 | 2.68 |
| Platelet degranulation | R-HSA-114608 | 6.68 |
| Class A/1 (Rhodopsin-like receptors) | R-HSA-373076 | 4.69 |
| Platelet activation, signaling and aggregation | R-HSA-76002 | 5.15 |
| Response to elevated platelet cytosolic Ca2+ | R-HSA-76005 | 6.59 |
| Peptide ligand-binding receptors | R-HSA-375276 | 5.41 |
| Sphingolipid metabolism | R-HSA-428157 | 6.79 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Metabolism of lipids and lipoproteins | R-HSA-556833 | 3.79 |
| GPCR ligand binding | R-HSA-500792 | 4.19 |
| Hemostasis | R-HSA-109582 | 3.98 |
| Signal Transduction | R-HSA-162582 | 1.78 |
| GO term | GO ID | GO IC |
|---|---|---|
| enzyme regulator activity | GO:0030234 | 2.85 |
| lipid binding | GO:0008289 | 3.26 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| G-protein coupled receptor binding | GO:0001664 | 4.18 |
| receptor binding | GO:0005102 | 2.43 |
| molecular function regulator | GO:0098772 | 2.51 |
| enzyme activator activity | GO:0008047 | 3.56 |