Disease ID | Disease name | Source of annotation with HMGCS2 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
605911 | 3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE-2 DEFICIENCY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | HMGCS2 |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Terpenoid backbone biosynthesis | hsa00900 | 8.31 |
Metabolic pathways | hsa01100 | 2.49 |
PPAR signaling pathway | hsa03320 | 6.56 |
Synthesis and degradation of ketone bodies | hsa00072 | 9.6 |
Valine, leucine and isoleucine degradation | hsa00280 | 7.09 |
Butanoate metabolism | hsa00650 | 7.96 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
PPARA activates gene expression | R-HSA-1989781 | 6.18 |
Ketone body metabolism | R-HSA-74182 | 10.66 |
Synthesis of Ketone Bodies | R-HSA-77111 | 10.98 |
Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) | R-HSA-400206 | 6.14 |
Metabolism | R-HSA-1430728 | 2.34 |
Fatty acid, triacylglycerol, and ketone body metabolism | R-HSA-535734 | 5.44 |
Metabolism of lipids and lipoproteins | R-HSA-556833 | 3.79 |
GO term | GO ID | GO IC |
---|---|---|
transferase activity, transferring acyl groups, acyl groups converted into alkyl on transfer | GO:0046912 | 8.13 |
catalytic activity | GO:0003824 | 1.05 |
transferase activity | GO:0016740 | 1.95 |
transferase activity, transferring acyl groups | GO:0016746 | 4.2 |
hydroxymethylglutaryl-CoA synthase activity | GO:0004421 | 9.05 |