| Disease ID | Disease name | Source of annotation with ACACA | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 613933 | ACETYL-COA CARBOXYLASE DEFICIENCY | OMIM | link to OMIM | 1 | ACACA |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Pyruvate metabolism | hsa00620 | 7.45 |
| Fatty acid metabolism | hsa01212 | 7.07 |
| Metabolic pathways | hsa01100 | 2.49 |
| Fatty acid biosynthesis | hsa00061 | 8.96 |
| Insulin signaling pathway | hsa04910 | 5.55 |
| Propanoate metabolism | hsa00640 | 7.81 |
| AMPK signaling pathway | hsa04152 | 5.8 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Diseases of metabolism | R-HSA-5668914 | 6.57 |
| Metabolism of water-soluble vitamins and cofactors | R-HSA-196849 | 6.54 |
| Triglyceride Biosynthesis | R-HSA-75109 | 7.46 |
| Defective HLCS causes multiple carboxylase deficiency | R-HSA-3371599 | 9.98 |
| Regulation of cholesterol biosynthesis by SREBP (SREBF) | R-HSA-1655829 | 7.23 |
| ChREBP activates metabolic gene expression | R-HSA-163765 | 9.98 |
| Fatty acid, triacylglycerol, and ketone body metabolism | R-HSA-535734 | 5.44 |
| Integration of energy metabolism | R-HSA-163685 | 6.24 |
| Activation of gene expression by SREBF (SREBP) | R-HSA-2426168 | 7.62 |
| Defects in biotin (Btn) metabolism | R-HSA-3323169 | 9.81 |
| Fatty Acyl-CoA Biosynthesis | R-HSA-75105 | 8.34 |
| Import of palmitoyl-CoA into the mitochondrial matrix | R-HSA-200425 | 9.52 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Metabolism of vitamins and cofactors | R-HSA-196854 | 6.54 |
| Metabolism of lipids and lipoproteins | R-HSA-556833 | 3.79 |
| Defects in vitamin and cofactor metabolism | R-HSA-3296482 | 8.52 |
| Disease | R-HSA-1643685 | 3.33 |
| Biotin transport and metabolism | R-HSA-196780 | 9.52 |
| GO term | GO ID | GO IC |
|---|---|---|
| purine ribonucleoside triphosphate binding | GO:0035639 | 2.22 |
| ligase activity, forming carbon-carbon bonds | GO:0016885 | 7.79 |
| binding | GO:0005488 | 0.18 |
| nucleotide binding | GO:0000166 | 1.96 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| nucleoside phosphate binding | GO:1901265 | 1.96 |
| nucleoside binding | GO:0001882 | 2.21 |
| cation binding | GO:0043169 | 1.4 |
| ion binding | GO:0043167 | 1.36 |
| purine nucleoside binding | GO:0001883 | 2.22 |
| ribonucleoside binding | GO:0032549 | 2.22 |
| purine nucleotide binding | GO:0017076 | 2.19 |
| metal ion binding | GO:0046872 | 1.41 |
| ATP binding | GO:0005524 | 2.43 |
| acetyl-CoA carboxylase activity | GO:0003989 | 8.64 |
| small molecule binding | GO:0036094 | 1.89 |
| catalytic activity | GO:0003824 | 1.05 |
| ligase activity | GO:0016874 | 3.72 |
| ligase activity, forming carbon-nitrogen bonds | GO:0016879 | 5.7 |
| carbohydrate derivative binding | GO:0097367 | 2.03 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| adenyl nucleotide binding | GO:0030554 | 2.4 |
| CoA carboxylase activity | GO:0016421 | 7.95 |
| adenyl ribonucleotide binding | GO:0032559 | 2.41 |
| protein binding | GO:0005515 | 0.46 |
| purine ribonucleotide binding | GO:0032555 | 2.2 |
| biotin carboxylase activity | GO:0004075 | 8.13 |
| purine ribonucleoside binding | GO:0032550 | 2.22 |
| ribonucleotide binding | GO:0032553 | 2.19 |