Disease ID | Disease name | Source of annotation with GALC | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
245200 | KRABBE DISEASE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | GALC |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Metabolic pathways | hsa01100 | 2.49 |
Lysosome | hsa04142 | 5.78 |
Sphingolipid metabolism | hsa00600 | 7.15 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Metabolism of lipids and lipoproteins | R-HSA-556833 | 3.79 |
Metabolism | R-HSA-1430728 | 2.34 |
Glycosphingolipid metabolism | R-HSA-1660662 | 7.62 |
Sphingolipid metabolism | R-HSA-428157 | 6.79 |
GO term | GO ID | GO IC |
---|---|---|
hydrolase activity | GO:0016787 | 1.9 |
galactosylceramidase activity | GO:0004336 | 9.74 |
hydrolase activity, acting on glycosyl bonds | GO:0016798 | 4.91 |
catalytic activity | GO:0003824 | 1.05 |
hydrolase activity, hydrolyzing O-glycosyl compounds | GO:0004553 | 5.14 |