Disease ID | Disease name | Source of annotation with GOSR2 | 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 |
---|---|---|
SNARE interactions in vesicular transport | hsa04130 | 7.64 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
IRE1alpha activates chaperones | R-HSA-381070 | 7.2 |
Unfolded Protein Response (UPR) | R-HSA-381119 | 6.56 |
XBP1(S) activates chaperone genes | R-HSA-381038 | 7.25 |
Metabolism of proteins | R-HSA-392499 | 3.41 |
GO term | GO ID | GO IC |
---|---|---|
transporter activity | GO:0005215 | 2.57 |
SNARE binding | GO:0000149 | 4.87 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |
SNAP receptor activity | GO:0005484 | 6.02 |