| Disease ID | Disease name | Source of annotation with PSEN2 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS115200 | DILATED CARDIOMYOPATHY | ClinVar, OMIM | link to OMIM | 36 | MYBPC3, VCL, PSEN2, PLN, LDB3, ACTC1, BAG3, RBM20, CSRP3, RAF1, MYH7, SGCD, TTN, FKTN, CRYAB, NEXN, SDHA, ABCC9, DSG2, ACTN2, TNNT2, GATAD1, EYA4, TNNC1, LAMA4, SCN5A, MYH6, DMD, TPM1, TNNI3, PRDM16, DES, LMNA, TMPO, MYPN, PSEN1 |
| 104300 | ALZHEIMER DISEASE | ClinVar | link to OMIM | 13 | MPO, ACE, APBB2, APP, A2M, PAXIP1, NOS3, PSEN2, PLAU, BLMH, PSEN1, HFE, SORL1 |
| 606889 | ALZHEIMER DISEASE 4 | ClinVar, OMIM, HUMSAVAR | link to OMIM | 2 | PSEN2, PSEN1 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Notch signaling pathway | hsa04330 | 7.12 |
| Neurotrophin signaling pathway | hsa04722 | 5.78 |
| Alzheimer's disease | hsa05010 | 5.34 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Signaling by NOTCH | R-HSA-157118 | 6.2 |
| p75 NTR receptor-mediated signalling | R-HSA-193704 | 6.59 |
| Signaling by ERBB4 | R-HSA-1236394 | 4.7 |
| Developmental Biology | R-HSA-1266738 | 3.48 |
| Activated NOTCH1 Transmits Signal to the Nucleus | R-HSA-2122948 | 8.08 |
| Signalling by NGF | R-HSA-166520 | 4.23 |
| Signaling by NOTCH4 | R-HSA-1980150 | 9.52 |
| Disease | R-HSA-1643685 | 3.33 |
| Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants | R-HSA-2894862 | 7.15 |
| Diseases of signal transduction | R-HSA-5663202 | 4.89 |
| NRIF signals cell death from the nucleus | R-HSA-205043 | 9.08 |
| EPH-Ephrin signaling | R-HSA-2682334 | 6.43 |
| Nuclear signaling by ERBB4 | R-HSA-1251985 | 7.7 |
| Regulated proteolysis of p75NTR | R-HSA-193692 | 9.66 |
| Signaling by NOTCH1 | R-HSA-1980143 | 6.81 |
| Signaling by NOTCH2 | R-HSA-1980145 | 7.98 |
| EPH-ephrin mediated repulsion of cells | R-HSA-3928665 | 7.34 |
| Signaling by NOTCH1 in Cancer | R-HSA-2644603 | 7.15 |
| Signaling by NOTCH1 PEST Domain Mutants in Cancer | R-HSA-2644602 | 7.15 |
| Constitutive Signaling by NOTCH1 PEST Domain Mutants | R-HSA-2644606 | 7.15 |
| Signaling by NOTCH3 | R-HSA-1980148 | 9.52 |
| Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer | R-HSA-2894858 | 7.15 |
| Cell death signalling via NRAGE, NRIF and NADE | R-HSA-204998 | 7.05 |
| Axon guidance | R-HSA-422475 | 3.93 |
| Signal Transduction | R-HSA-162582 | 1.78 |
| NOTCH2 Activation and Transmission of Signal to the Nucleus | R-HSA-2979096 | 8.59 |
| GO term | GO ID | GO IC |
|---|---|---|
| hydrolase activity | GO:0016787 | 1.9 |
| endopeptidase activity | GO:0004175 | 3.63 |
| aspartic-type peptidase activity | GO:0070001 | 6.1 |
| catalytic activity | GO:0003824 | 1.05 |
| peptidase activity, acting on L-amino acid peptides | GO:0070011 | 3.26 |
| aspartic-type endopeptidase activity | GO:0004190 | 6.13 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| peptidase activity | GO:0008233 | 3.23 |