Disease ID | Disease name | Source of annotation with AMACR | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS607765 | BILE ACID SYNTHESIS DEFECT, CONGENITAL | ClinVar, OMIM, HUMSAVAR | link to OMIM | 5 | AMACR, AKR1D1, CYP7B1, HSD3B7, ABCD3 |
614307 | ALPHA-METHYLACYL-COA RACEMASE DEFICIENCY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | AMACR |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Metabolic pathways | hsa01100 | 2.49 |
Primary bile acid biosynthesis | hsa00120 | 8.68 |
Peroxisome | hsa04146 | 6.34 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Bile acid and bile salt metabolism | R-HSA-194068 | 7.85 |
Beta-oxidation of pristanoyl-CoA | R-HSA-389887 | 9.98 |
Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol | R-HSA-193368 | 8.4 |
Peroxisomal lipid metabolism | R-HSA-390918 | 8.59 |
Synthesis of bile acids and bile salts via 24-hydroxycholesterol | R-HSA-193775 | 9.18 |
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 |
GO term | GO ID | GO IC |
---|---|---|
GO:0008111 | 9.74 | |
racemase and epimerase activity | GO:0016854 | 6.97 |
isomerase activity | GO:0016853 | 4.62 |
catalytic activity | GO:0003824 | 1.05 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |
receptor binding | GO:0005102 | 2.43 |