Disease ID | Disease name | Source of annotation with LIPA | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
278000 | LYSOSOMAL ACID LIPASE DEFICIENCY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | LIPA |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Steroid biosynthesis | hsa00100 | 8.45 |
Lysosome | hsa04142 | 5.78 |
GO term | GO ID | GO IC |
---|---|---|
hydrolase activity | GO:0016787 | 1.9 |
carboxylic ester hydrolase activity | GO:0052689 | 4.81 |
catalytic activity | GO:0003824 | 1.05 |
hydrolase activity, acting on ester bonds | GO:0016788 | 3.1 |
lipase activity | GO:0016298 | 4.96 |
sterol esterase activity | GO:0004771 | 8.64 |