Disease ID | Disease name | Source of annotation with CERS1 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS254800 | EPILEPSY, PROGRESSIVE MYOCLONIC | ClinVar, OMIM, HUMSAVAR | link to OMIM | 12 | CERS1, PRICKLE1, KCTD7, SCARB2, CSTB, TBC1D24, PRDM8, LMNB2, NHLRC1, KCNC1, GOSR2, EPM2A |
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KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Metabolic pathways | hsa01100 | 2.49 |
Sphingolipid metabolism | hsa00600 | 7.15 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Metabolism of lipids and lipoproteins | R-HSA-556833 | 3.79 |
Sphingolipid metabolism | R-HSA-428157 | 6.79 |
Metabolism | R-HSA-1430728 | 2.34 |
Sphingolipid de novo biosynthesis | R-HSA-1660661 | 7.98 |
GO term | GO ID | GO IC |
---|---|---|
protein binding | GO:0005515 | 0.46 |
transferase activity, transferring acyl groups other than amino-acyl groups | GO:0016747 | 4.37 |
catalytic activity | GO:0003824 | 1.05 |
transferase activity | GO:0016740 | 1.95 |
transferase activity, transferring acyl groups | GO:0016746 | 4.2 |
binding | GO:0005488 | 0.18 |
N-acyltransferase activity | GO:0016410 | 5.08 |
receptor binding | GO:0005102 | 2.43 |
sphingosine N-acyltransferase activity | GO:0050291 | 7.79 |
growth factor activity | GO:0008083 | 4.66 |