Disease ID | Disease name | Source of annotation with LIPT1 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
616299 | LIPOYLTRANSFERASE 1 DEFICIENCY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | LIPT1 |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Lipoic acid metabolism | hsa00785 | 10.77 |
Metabolic pathways | hsa01100 | 2.49 |
GO term | GO ID | GO IC |
---|---|---|
catalytic activity | GO:0003824 | 1.05 |
transferase activity | GO:0016740 | 1.95 |
transferase activity, transferring acyl groups | GO:0016746 | 4.2 |