| Disease ID | Disease name | Source of annotation with PSEN1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS115200 | DILATED CARDIOMYOPATHY | ClinVar, OMIM, HUMSAVAR | 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 |
| PS142690 | ACNE INVERSA | OMIM | link to OMIM | 3 | NCSTN, PSENEN, PSEN1 |
| 606889 | ALZHEIMER DISEASE 4 | ClinVar | link to OMIM | 2 | PSEN2, PSEN1 |
| 172700 | PICK DISEASE OF BRAIN | ClinVar, OMIM | link to OMIM | 2 | MAPT, PSEN1 |
| 600274 | FRONTOTEMPORAL DEMENTIA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 3 | GRN, MAPT, PSEN1 |
| 607822 | ALZHEIMER DISEASE 3 | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | PSEN1 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Alzheimer's disease | hsa05010 | 5.34 |
| Notch signaling pathway | hsa04330 | 7.12 |
| Neurotrophin signaling pathway | hsa04722 | 5.78 |
| Wnt signaling pathway | hsa04310 | 5.49 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Extracellular matrix organization | R-HSA-1474244 | 4.91 |
| Degradation of the extracellular matrix | R-HSA-1474228 | 6.11 |
| GO term | GO ID | GO IC |
|---|---|---|
| endopeptidase activity | GO:0004175 | 3.63 |
| cation channel activity | GO:0005261 | 4.04 |
| calcium channel activity | GO:0005262 | 5.03 |
| binding | GO:0005488 | 0.18 |
| peptidase activity | GO:0008233 | 3.23 |
| calcium ion transmembrane transporter activity | GO:0015085 | 4.89 |
| divalent inorganic cation transmembrane transporter activity | GO:0072509 | 4.62 |
| aspartic-type peptidase activity | GO:0070001 | 6.1 |
| peptidase activity, acting on L-amino acid peptides | GO:0070011 | 3.26 |
| passive transmembrane transporter activity | GO:0022803 | 3.6 |
| metal ion transmembrane transporter activity | GO:0046873 | 3.71 |
| hydrolase activity | GO:0016787 | 1.9 |
| transporter activity | GO:0005215 | 2.57 |
| ion channel activity | GO:0005216 | 3.71 |
| cation transmembrane transporter activity | GO:0008324 | 3.32 |
| beta-catenin binding | GO:0008013 | 5.3 |
| catalytic activity | GO:0003824 | 1.05 |
| PDZ domain binding | GO:0030165 | 5.22 |
| protein domain specific binding | GO:0019904 | 3.32 |
| cell adhesion molecule binding | GO:0050839 | 4.5 |
| substrate-specific transmembrane transporter activity | GO:0022891 | 2.9 |
| inorganic cation transmembrane transporter activity | GO:0022890 | 3.49 |
| substrate-specific transporter activity | GO:0022892 | 2.72 |
| cadherin binding | GO:0045296 | 6.41 |
| ion transmembrane transporter activity | GO:0015075 | 3.04 |
| transmembrane transporter activity | GO:0022857 | 2.82 |
| channel activity | GO:0015267 | 3.6 |
| aspartic-type endopeptidase activity | GO:0004190 | 6.13 |
| protein binding | GO:0005515 | 0.46 |
| substrate-specific channel activity | GO:0022838 | 3.67 |