Disease ID | Disease name | Source of annotation with SCARB2 | 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 |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Lysosome | hsa04142 | 5.78 |
GO term | GO ID | GO IC |
---|---|---|
virus receptor activity | GO:0001618 | 5.49 |
enzyme binding | GO:0019899 | 2.27 |
molecular transducer activity | GO:0060089 | 2.32 |
receptor activity | GO:0004872 | 2.32 |
protein binding | GO:0005515 | 0.46 |
binding | GO:0005488 | 0.18 |