Disease ID | Disease name | Source of annotation with NHLRC1 | 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 |
---|---|---|
Ubiquitin mediated proteolysis | hsa04120 | 5.63 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Glycogen storage diseases | R-HSA-3229121 | 9.52 |
Metabolism of carbohydrates | R-HSA-71387 | 4.93 |
Myoclonic epilepsy of Lafora | R-HSA-3785653 | 9.52 |
Diseases of carbohydrate metabolism | R-HSA-5663084 | 8.28 |
Diseases of metabolism | R-HSA-5668914 | 6.57 |
Glycogen synthesis | R-HSA-3322077 | 9.08 |
Metabolism | R-HSA-1430728 | 2.34 |
Disease | R-HSA-1643685 | 3.33 |
Glucose metabolism | R-HSA-70326 | 6.77 |
GO term | GO ID | GO IC |
---|---|---|
ubiquitin-like protein transferase activity | GO:0019787 | 3.69 |
cation binding | GO:0043169 | 1.4 |
transition metal ion binding | GO:0046914 | 2.48 |
ubiquitin-protein transferase activity | GO:0004842 | 3.73 |
ubiquitin protein ligase activity | GO:0061630 | 4.47 |
ion binding | GO:0043167 | 1.36 |
catalytic activity | GO:0003824 | 1.05 |
transferase activity | GO:0016740 | 1.95 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |
ubiquitin-like protein ligase activity | GO:0061659 | 4.44 |
metal ion binding | GO:0046872 | 1.41 |
ligase activity | GO:0016874 | 3.72 |
zinc ion binding | GO:0008270 | 2.66 |