| Disease ID | Disease name | Source of annotation with SMPD1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS256730 | CEROID LIPOFUSCINOSES | ClinVar | link to OMIM | 12 | CLN8, CLN5, MFSD8, CTSD, GRN, CLN6, PPT1, DNAJC5, CLN3, CTSF, SMPD1, TPP1 |
| 607616 | NIEMANN-PICK DISEASE, TYPE B | OMIM, HUMSAVAR | link to OMIM | 1 | SMPD1 |
| 257200 | NIEMANN-PICK DISEASE, TYPE A | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | SMPD1 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Metabolic pathways | hsa01100 | 2.49 |
| Lysosome | hsa04142 | 5.78 |
| Sphingolipid metabolism | hsa00600 | 7.15 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Metabolism of lipids and lipoproteins | R-HSA-556833 | 3.79 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Glycosphingolipid metabolism | R-HSA-1660662 | 7.62 |
| Sphingolipid metabolism | R-HSA-428157 | 6.79 |
| GO term | GO ID | GO IC |
|---|---|---|
| hydrolase activity | GO:0016787 | 1.9 |
| transition metal ion binding | GO:0046914 | 2.48 |
| cation binding | GO:0043169 | 1.4 |
| acid sphingomyelin phosphodiesterase activity | GO:0061750 | 9.74 |
| phosphoric diester hydrolase activity | GO:0008081 | 5.23 |
| hydrolase activity, acting on glycosyl bonds | GO:0016798 | 4.91 |
| hydrolase activity, acting on ester bonds | GO:0016788 | 3.1 |
| ion binding | GO:0043167 | 1.36 |
| phosphoric ester hydrolase activity | GO:0042578 | 3.82 |
| catalytic activity | GO:0003824 | 1.05 |
| sphingomyelin phosphodiesterase activity | GO:0004767 | 7.79 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| phospholipase activity | GO:0004620 | 5.16 |
| metal ion binding | GO:0046872 | 1.41 |
| lipase activity | GO:0016298 | 4.96 |
| zinc ion binding | GO:0008270 | 2.66 |