Disease ID | Disease name | Source of annotation with ACAT2 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
614055 | ACETYL-COA ACETYLTRANSFERASE-2 DEFICIENCY | OMIM | link to OMIM | 1 | ACAT2 |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Lysine degradation | hsa00310 | 7.01 |
Fat digestion and absorption | hsa04975 | 7.45 |
Pyruvate metabolism | hsa00620 | 7.45 |
Terpenoid backbone biosynthesis | hsa00900 | 8.31 |
Metabolic pathways | hsa01100 | 2.49 |
Glyoxylate and dicarboxylate metabolism | hsa00630 | 8.07 |
Fatty acid degradation | hsa00071 | 7.15 |
Synthesis and degradation of ketone bodies | hsa00072 | 9.6 |
Carbon metabolism | hsa01200 | 6.03 |
Valine, leucine and isoleucine degradation | hsa00280 | 7.09 |
Propanoate metabolism | hsa00640 | 7.81 |
Tryptophan metabolism | hsa00380 | 7.34 |
Fatty acid metabolism | hsa01212 | 7.07 |
Butanoate metabolism | hsa00650 | 7.96 |
GO term | GO ID | GO IC |
---|---|---|
protein binding | GO:0005515 | 0.46 |
acetyltransferase activity | GO:0016407 | 5.1 |
catalytic activity | GO:0003824 | 1.05 |
transferase activity | GO:0016740 | 1.95 |
transferase activity, transferring acyl groups | GO:0016746 | 4.2 |
binding | GO:0005488 | 0.18 |
acetyl-CoA C-acyltransferase activity | GO:0003988 | 7.95 |
C-acetyltransferase activity | GO:0016453 | 8.35 |
acetyl-CoA C-acetyltransferase activity | GO:0003985 | 8.64 |
C-acyltransferase activity | GO:0016408 | 7.1 |
transferase activity, transferring acyl groups other than amino-acyl groups | GO:0016747 | 4.37 |