Disease ID | Disease name | Source of annotation with HMGCL | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
246450 | 3-HYDROXY-3-METHYLGLUTARYL-COA LYASE DEFICIENCY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | HMGCL |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Valine, leucine and isoleucine degradation | hsa00280 | 7.09 |
Metabolic pathways | hsa01100 | 2.49 |
Peroxisome | hsa04146 | 6.34 |
Butanoate metabolism | hsa00650 | 7.96 |
Synthesis and degradation of ketone bodies | hsa00072 | 9.6 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Metabolism of lipids and lipoproteins | R-HSA-556833 | 3.79 |
Ketone body metabolism | R-HSA-74182 | 10.66 |
Metabolism | R-HSA-1430728 | 2.34 |
Synthesis of Ketone Bodies | R-HSA-77111 | 10.98 |
Fatty acid, triacylglycerol, and ketone body metabolism | R-HSA-535734 | 5.44 |
GO term | GO ID | GO IC |
---|---|---|
carbon-carbon lyase activity | GO:0016830 | 5.81 |
binding | GO:0005488 | 0.18 |
sulfur compound binding | GO:1901681 | 4.32 |
coenzyme binding | GO:0050662 | 4.53 |
transition metal ion binding | GO:0046914 | 2.48 |
lyase activity | GO:0016829 | 4.53 |
magnesium ion binding | GO:0000287 | 4.41 |
fatty-acyl-CoA binding | GO:0000062 | 6.3 |
ion binding | GO:0043167 | 1.36 |
metal ion binding | GO:0046872 | 1.41 |
identical protein binding | GO:0042802 | 2.63 |
protein homodimerization activity | GO:0042803 | 3.16 |
anion binding | GO:0043168 | 4.17 |
cation binding | GO:0043169 | 1.4 |
manganese ion binding | GO:0030145 | 5.89 |
catalytic activity | GO:0003824 | 1.05 |
cofactor binding | GO:0048037 | 4.16 |
receptor binding | GO:0005102 | 2.43 |
hydroxymethylglutaryl-CoA lyase activity | GO:0004419 | 9.05 |
carboxylic acid binding | GO:0031406 | 4.64 |
oxo-acid-lyase activity | GO:0016833 | 8.35 |
protein binding | GO:0005515 | 0.46 |
protein dimerization activity | GO:0046983 | 2.72 |