Disease ID | Disease name | Source of annotation with PNPLA2 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
610717 | NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | PNPLA2 |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Glycerolipid metabolism | hsa00561 | 6.91 |
Metabolic pathways | hsa01100 | 2.49 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Metabolism of lipids and lipoproteins | R-HSA-556833 | 3.79 |
Acyl chain remodeling of DAG and TAG | R-HSA-1482883 | 10.66 |
Metabolism | R-HSA-1430728 | 2.34 |
Phospholipid metabolism | R-HSA-1483257 | 5.83 |
Glycerophospholipid biosynthesis | R-HSA-1483206 | 6.46 |
GO term | GO ID | GO IC |
---|---|---|
hydrolase activity | GO:0016787 | 1.9 |
triglyceride lipase activity | GO:0004806 | 6.74 |
lipoprotein lipase activity | GO:0004465 | 7.66 |
hydrolase activity, acting on ester bonds | GO:0016788 | 3.1 |
catalytic activity | GO:0003824 | 1.05 |
transferase activity | GO:0016740 | 1.95 |
transferase activity, transferring acyl groups | GO:0016746 | 4.2 |
carboxylic ester hydrolase activity | GO:0052689 | 4.81 |
acylglycerol O-acyltransferase activity | GO:0016411 | 6.41 |
O-acyltransferase activity | GO:0008374 | 5.85 |
lipase activity | GO:0016298 | 4.96 |
transferase activity, transferring acyl groups other than amino-acyl groups | GO:0016747 | 4.37 |