Disease ID | Disease name | Source of annotation with OXCT1 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
245050 | SUCCINYL-COA:3-OXOACID-COA TRANSFERASE DEFICIENCY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | OXCT1 |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Valine, leucine and isoleucine degradation | hsa00280 | 7.09 |
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 |
Utilization of Ketone Bodies | R-HSA-77108 | 11.4 |
Metabolism | R-HSA-1430728 | 2.34 |
Fatty acid, triacylglycerol, and ketone body metabolism | R-HSA-535734 | 5.44 |
GO term | GO ID | GO IC |
---|---|---|
transferase activity, transferring sulfur-containing groups | GO:0016782 | 5.52 |
3-oxoacid CoA-transferase activity | GO:0008260 | 9.05 |
CoA-transferase activity | GO:0008410 | 8.35 |
catalytic activity | GO:0003824 | 1.05 |
transferase activity | GO:0016740 | 1.95 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |
protein dimerization activity | GO:0046983 | 2.72 |
identical protein binding | GO:0042802 | 2.63 |
protein homodimerization activity | GO:0042803 | 3.16 |