| Disease ID | Disease name | Source of annotation with TPP1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 609270 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | TPP1 |
| 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 |
|---|---|---|
| Lysosome | hsa04142 | 5.78 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| IRE1alpha activates chaperones | R-HSA-381070 | 7.2 |
| Unfolded Protein Response (UPR) | R-HSA-381119 | 6.56 |
| XBP1(S) activates chaperone genes | R-HSA-381038 | 7.25 |
| Metabolism of proteins | R-HSA-392499 | 3.41 |
| GO term | GO ID | GO IC |
|---|---|---|
| hydrolase activity | GO:0016787 | 1.9 |
| endopeptidase activity | GO:0004175 | 3.63 |
| serine-type endopeptidase activity | GO:0004252 | 4.4 |
| serine hydrolase activity | GO:0017171 | 4.26 |
| tripeptidyl-peptidase activity | GO:0008240 | 8.64 |
| amide binding | GO:0033218 | 4.14 |
| catalytic activity | GO:0003824 | 1.05 |
| cation binding | GO:0043169 | 1.4 |
| ion binding | GO:0043167 | 1.36 |
| exopeptidase activity | GO:0008238 | 5.07 |
| peptidase activity, acting on L-amino acid peptides | GO:0070011 | 3.26 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| peptide binding | GO:0042277 | 4.22 |
| peptidase activity | GO:0008233 | 3.23 |
| metal ion binding | GO:0046872 | 1.41 |
| serine-type peptidase activity | GO:0008236 | 4.27 |