Disease ID | Disease name | Source of annotation with ACY1 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
609924 | AMINOACYLASE 1 DEFICIENCY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | ACY1 |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Biosynthesis of amino acids | hsa01230 | 6.58 |
Metabolic pathways | hsa01100 | 2.49 |
2-Oxocarboxylic acid metabolism | hsa01210 | 8.68 |
Arginine and proline metabolism | hsa00330 | 6.84 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Biological oxidations | R-HSA-211859 | 5.55 |
Aflatoxin activation and detoxification | R-HSA-5423646 | 8.66 |
Defective ACY1 causes encephalopathy | R-HSA-5579007 | 12.98 |
Diseases of metabolism | R-HSA-5668914 | 6.57 |
Metabolism | R-HSA-1430728 | 2.34 |
Metabolic disorders of biological oxidation enzymes | R-HSA-5579029 | 7.85 |
Disease | R-HSA-1643685 | 3.33 |
GO term | GO ID | GO IC |
---|---|---|
aminoacylase activity | GO:0004046 | 7.95 |
hydrolase activity | GO:0016787 | 1.9 |
cation binding | GO:0043169 | 1.4 |
hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds | GO:0016810 | 4.76 |
hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides | GO:0016811 | 5.28 |
ion binding | GO:0043167 | 1.36 |
catalytic activity | GO:0003824 | 1.05 |
peptidase activity, acting on L-amino acid peptides | GO:0070011 | 3.26 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |
peptidase activity | GO:0008233 | 3.23 |
metal ion binding | GO:0046872 | 1.41 |
metallopeptidase activity | GO:0008237 | 4.5 |