| Disease ID | Disease name | Source of annotation with JUP | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS107970 | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 9 | TGFB3, DSP, TMEM43, DSC2, PKP2, CTNNA3, RYR2, DSG2, JUP |
| 603829 | VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 1 | ClinVar | link to OMIM | 13 | DSP, JPH2, MYH7, VCL, TTN, SNTA1, CACNA1C, RYR2, PKP2, KCNH2, RBM20, SCN5A, JUP |
| 601214 | NAXOS DISEASE | ClinVar, OMIM | link to OMIM | 1 | JUP |
| 115000 | CARDIAC ARRHYTHMIA | ClinVar | link to OMIM | 25 | KCNE3, CACNB2, AKAP9, NPPA, KCNE1, SCN4B, CASQ2, KCNJ5, TANGO2, JUP, ANK2, KCNJ2, DSG2, NOS1AP, KCNJ8, LIG3, RYR2, CACNA1C, KCNE2, KCNH2, SCN5A, HCN4, SNTA1, SCN1B, KCNQ1 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Arrhythmogenic right ventricular cardiomyopathy (ARVC) | hsa05412 | 6.32 |
| Pathways in cancer | hsa05200 | 3.98 |
| Acute myeloid leukemia | hsa05221 | 6.74 |
| Transcriptional misregulation in cancer | hsa05202 | 5.21 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| VEGFA-VEGFR2 Pathway | R-HSA-4420097 | 4.7 |
| Signaling by VEGF | R-HSA-194138 | 4.66 |
| Cell-cell junction organization | R-HSA-421270 | 7.03 |
| Cell junction organization | R-HSA-446728 | 6.51 |
| Cell-Cell communication | R-HSA-1500931 | 5.87 |
| Adherens junctions interactions | R-HSA-418990 | 7.98 |
| VEGFR2 mediated vascular permeability | R-HSA-5218920 | 8.28 |
| Signal Transduction | R-HSA-162582 | 1.78 |
| GO term | GO ID | GO IC |
|---|---|---|
| protein binding involved in cell adhesion | GO:0098631 | 6.91 |
| protein binding involved in cell-cell adhesion | GO:0098632 | 7.34 |
| enzyme binding | GO:0019899 | 2.27 |
| binding | GO:0005488 | 0.18 |
| signal transducer activity | GO:0004871 | 2.28 |
| transcription coactivator activity | GO:0003713 | 4.04 |
| transcription cofactor activity | GO:0003712 | 3.44 |
| structural constituent of cell wall | GO:0005199 | 9.74 |
| structural molecule activity | GO:0005198 | 3.1 |
| transcription factor activity, transcription factor binding | GO:0000989 | 3.36 |
| transcription factor activity, protein binding | GO:0000988 | 3.35 |
| protein binding involved in heterotypic cell-cell adhesion | GO:0086080 | 7.54 |
| identical protein binding | GO:0042802 | 2.63 |
| cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication | GO:0086083 | 7.95 |
| protein kinase binding | GO:0019901 | 3.44 |
| kinase binding | GO:0019900 | 3.32 |
| protein phosphatase binding | GO:0019903 | 4.93 |
| phosphatase binding | GO:0019902 | 4.63 |
| cell adhesion molecule binding | GO:0050839 | 4.5 |
| alpha-catenin binding | GO:0045294 | 7.44 |
| cadherin binding | GO:0045296 | 6.41 |
| protein binding | GO:0005515 | 0.46 |
| protein dimerization activity | GO:0046983 | 2.72 |
| protein homodimerization activity | GO:0042803 | 3.16 |