Disease ID | Disease name | Source of annotation with PPT1 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS256730 | CEROID LIPOFUSCINOSES | ClinVar, OMIM, HUMSAVAR | link to OMIM | 12 | CLN8, CLN5, MFSD8, CTSD, GRN, CLN6, PPT1, DNAJC5, SMPD1, CTSF, CLN3, TPP1 |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Fatty acid elongation | hsa00062 | 8.18 |
Metabolic pathways | hsa01100 | 2.49 |
Lysosome | hsa04142 | 5.78 |
Fatty acid metabolism | hsa01212 | 7.07 |
GO term | GO ID | GO IC |
---|---|---|
hydrolase activity | GO:0016787 | 1.9 |
CoA hydrolase activity | GO:0016289 | 6.69 |
thiolester hydrolase activity | GO:0016790 | 6.18 |
palmitoyl hydrolase activity | GO:0098599 | 8.13 |
hydrolase activity, acting on ester bonds | GO:0016788 | 3.1 |
catalytic activity | GO:0003824 | 1.05 |
palmitoyl-CoA hydrolase activity | GO:0016290 | 7.25 |
palmitoyl-(protein) hydrolase activity | GO:0008474 | 8.13 |
acyl-CoA hydrolase activity | GO:0047617 | 6.79 |