Disease ID | Disease name | Source of annotation with ELOVL4 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
600110 | STARGARDT DISEASE 3 | ClinVar, OMIM | link to OMIM | 1 | ELOVL4 |
614457 | ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION | ClinVar, OMIM | link to OMIM | 1 | ELOVL4 |
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 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Triglyceride Biosynthesis | R-HSA-75109 | 7.46 |
Fatty Acyl-CoA Biosynthesis | R-HSA-75105 | 8.34 |
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 |
---|---|---|
G-protein coupled photoreceptor activity | GO:0008020 | 7.34 |
G-protein coupled receptor activity | GO:0004930 | 2.95 |
photoreceptor activity | GO:0009881 | 6.97 |
signal transducer activity | GO:0004871 | 2.28 |
catalytic activity | GO:0003824 | 1.05 |
transferase activity | GO:0016740 | 1.95 |
molecular transducer activity | GO:0060089 | 2.32 |
transmembrane signaling receptor activity | GO:0004888 | 2.57 |
receptor activity | GO:0004872 | 2.32 |
protein binding | GO:0005515 | 0.46 |
signaling receptor activity | GO:0038023 | 2.49 |
transmembrane receptor activity | GO:0099600 | 2.53 |
binding | GO:0005488 | 0.18 |