Disease ID | Disease name | Source of annotation with EPM2A | 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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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 |
---|---|---|
carbohydrate phosphatase activity | GO:0019203 | 7.34 |
phosphoprotein phosphatase activity | GO:0004721 | 4.55 |
phosphatase activity | GO:0016791 | 4.11 |
starch binding | GO:2001070 | 8.64 |
protein tyrosine/serine/threonine phosphatase activity | GO:0008138 | 5.91 |
hydrolase activity | GO:0016787 | 1.9 |
protein tyrosine phosphatase activity | GO:0004725 | 5.09 |
polysaccharide binding | GO:0030247 | 6.65 |
carbohydrate binding | GO:0030246 | 4.17 |
hydrolase activity, acting on ester bonds | GO:0016788 | 3.1 |
protein serine/threonine phosphatase activity | GO:0004722 | 5.58 |
phosphoric ester hydrolase activity | GO:0042578 | 3.82 |
catalytic activity | GO:0003824 | 1.05 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |
pattern binding | GO:0001871 | 6.65 |