Disease ID | Disease name | Source of annotation with MCEE | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
251120 | METHYLMALONYL-COA EPIMERASE DEFICIENCY | ClinVar, OMIM | link to OMIM | 1 | MCEE |
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 |
Glyoxylate and dicarboxylate metabolism | hsa00630 | 8.07 |
Propanoate metabolism | hsa00640 | 7.81 |
Metabolic pathways | hsa01100 | 2.49 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Metabolism of lipids and lipoproteins | R-HSA-556833 | 3.79 |
Mitochondrial Fatty Acid Beta-Oxidation | R-HSA-77289 | 9.08 |
Metabolism | R-HSA-1430728 | 2.34 |
Propionyl-CoA catabolism | R-HSA-71032 | 10.66 |
Fatty acid, triacylglycerol, and ketone body metabolism | R-HSA-535734 | 5.44 |
GO term | GO ID | GO IC |
---|---|---|
cation binding | GO:0043169 | 1.4 |
racemase and epimerase activity | GO:0016854 | 6.97 |
isomerase activity | GO:0016853 | 4.62 |
methylmalonyl-CoA epimerase activity | GO:0004493 | 9.74 |
ion binding | GO:0043167 | 1.36 |
catalytic activity | GO:0003824 | 1.05 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |
metal ion binding | GO:0046872 | 1.41 |