| Disease ID | Disease name | Source of annotation with ELOVL5 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS164400 | SPINOCEREBELLAR ATAXIA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 31 | ATXN10, ATXN2, SCYL1, PDYN, ELOVL5, PRKCG, TRPC3, ATXN8OS, NOP56, ATXN8, TBP, PPP2R2B, ELOVL4, PLEKHG4, ATXN7, AFG3L2, BEAN1, CACNA1A, ATXN1, TTBK2, KCND3, CACNA1G, TMEM240, ATXN3, KCNC3, SPTBN2, TGM6, CCDC88C, FGF14, ITPR1, EEF2 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Fatty acid elongation | hsa00062 | 8.18 |
| Fatty acid metabolism | hsa01212 | 7.07 |
| Biosynthesis of unsaturated fatty acids | hsa01040 | 8.38 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Triglyceride Biosynthesis | R-HSA-75109 | 7.46 |
| Fatty Acyl-CoA Biosynthesis | R-HSA-75105 | 8.34 |
| alpha-linolenic acid (ALA) metabolism | R-HSA-2046106 | 9.28 |
| alpha-linolenic (omega3) and linoleic (omega6) acid metabolism | R-HSA-2046104 | 9.28 |
| Linoleic acid (LA) metabolism | R-HSA-2046105 | 9.98 |
| Synthesis of very long-chain fatty acyl-CoAs | R-HSA-75876 | 8.66 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Fatty acid, triacylglycerol, and ketone body metabolism | R-HSA-535734 | 5.44 |
| Metabolism of lipids and lipoproteins | R-HSA-556833 | 3.79 |
| GO term | GO ID | GO IC |
|---|---|---|
| fatty acid elongase activity | GO:0009922 | 7.95 |
| fatty acid synthase activity | GO:0004312 | 7.44 |
| catalytic activity | GO:0003824 | 1.05 |
| transferase activity | GO:0016740 | 1.95 |
| transferase activity, transferring acyl groups | GO:0016746 | 4.2 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| transferase activity, transferring acyl groups other than amino-acyl groups | GO:0016747 | 4.37 |