| Disease ID | Disease name | Source of annotation with BAAT | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS235400 | HEMOLYTIC UREMIC SYNDROME | ClinVar | link to OMIM | 11 | CFH, CFHR3, CFHR1, BAAT, CFI, THBD, C3AR1, C3, CD46, CFB, DGKE |
| 607748 | HYPERCHOLANEMIA, FAMILIAL | ClinVar, OMIM, HUMSAVAR | link to OMIM | 3 | EPHX1, TJP2, BAAT |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Bile secretion | hsa04976 | 6.56 |
| Metabolic pathways | hsa01100 | 2.49 |
| Taurine and hypotaurine metabolism | hsa00430 | 9.45 |
| Peroxisome | hsa04146 | 6.34 |
| Primary bile acid biosynthesis | hsa00120 | 8.68 |
| Biosynthesis of unsaturated fatty acids | hsa01040 | 8.38 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Bile acid and bile salt metabolism | R-HSA-194068 | 7.85 |
| Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol | R-HSA-193368 | 8.4 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Synthesis of bile acids and bile salts | R-HSA-192105 | 8.23 |
| Metabolism of lipids and lipoproteins | R-HSA-556833 | 3.79 |
| Recycling of bile acids and salts | R-HSA-159418 | 9.08 |
| GO term | GO ID | GO IC |
|---|---|---|
| hydrolase activity | GO:0016787 | 1.9 |
| CoA hydrolase activity | GO:0016289 | 6.69 |
| N-acyltransferase activity | GO:0016410 | 5.08 |
| carboxylic ester hydrolase activity | GO:0052689 | 4.81 |
| thiolester hydrolase activity | GO:0016790 | 6.18 |
| glycine N-choloyltransferase activity | GO:0047963 | 9.74 |
| transferase activity, transferring acyl groups other than amino-acyl groups | GO:0016747 | 4.37 |
| hydrolase activity, acting on ester bonds | GO:0016788 | 3.1 |
| transferase activity, transferring acyl groups | GO:0016746 | 4.2 |
| catalytic activity | GO:0003824 | 1.05 |
| transferase activity | GO:0016740 | 1.95 |
| palmitoyl-CoA hydrolase activity | GO:0016290 | 7.25 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| medium-chain acyl-CoA hydrolase activity | GO:0052815 | 9.05 |
| long-chain acyl-CoA hydrolase activity | GO:0052816 | 9.05 |
| receptor binding | GO:0005102 | 2.43 |
| acyl-CoA hydrolase activity | GO:0047617 | 6.79 |
| very long chain acyl-CoA hydrolase activity | GO:0052817 | 9.74 |