Disease ID | Disease name | Source of annotation with HIBCH | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
250620 | 3-HYDROXYISOBUTYRYL-COA HYDROLASE DEFICIENCY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | HIBCH |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Carbon metabolism | hsa01200 | 6.03 |
Valine, leucine and isoleucine degradation | hsa00280 | 7.09 |
Metabolic pathways | hsa01100 | 2.49 |
Propanoate metabolism | hsa00640 | 7.81 |
beta-Alanine metabolism | hsa00410 | 7.72 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Metabolism of amino acids and derivatives | R-HSA-71291 | 5.4 |
Metabolism | R-HSA-1430728 | 2.34 |
Branched-chain amino acid catabolism | R-HSA-70895 | 8.89 |
GO term | GO ID | GO IC |
---|---|---|
hydrolase activity | GO:0016787 | 1.9 |
CoA hydrolase activity | GO:0016289 | 6.69 |
thiolester hydrolase activity | GO:0016790 | 6.18 |
hydrolase activity, acting on ester bonds | GO:0016788 | 3.1 |
catalytic activity | GO:0003824 | 1.05 |
3-hydroxyisobutyryl-CoA hydrolase activity | GO:0003860 | 9.74 |