Disease ID | Disease name | Source of annotation with TECR | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS249500 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 31 | ADAT3, NDST1, GPT2, PIGG, FMN2, TTI2, PGAP1, HNMT, EDC3, NSUN2, KPTN, GRIK2, TAF2, KIAA1033, MED23, PRSS12, FBXO31, LINS1, HERC2, CC2D1A, METTL23, TUSC3, ST3GAL3, TECR, CRADD, MAN1B1, SLC6A17, ANK3, CRBN, TRAPPC9, LMAN2L |
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 |
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 |
---|---|---|
catalytic activity | GO:0003824 | 1.05 |
oxidoreductase activity, acting on the CH-CH group of donors | GO:0016627 | 5.66 |
very-long-chain-acyl-CoA dehydrogenase activity | GO:0017099 | 8.64 |
long-chain-acyl-CoA dehydrogenase activity | GO:0004466 | 8.35 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |
acyl-CoA dehydrogenase activity | GO:0003995 | 6.91 |
oxidoreductase activity | GO:0016491 | 3.12 |