| Disease ID | Disease name | Source of annotation with ITGB6 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS104500 | AMELOGENESIS IMPERFECTA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 12 | C4orf26, AMELX, MMP20, SLC24A4, DLX3, FAM83H, ITGB6, FAM20A, WDR72, KLK4, LAMB3, ENAM |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| ECM-receptor interaction | hsa04512 | 6.09 |
| Focal adhesion | hsa04510 | 4.92 |
| Hypertrophic cardiomyopathy (HCM) | hsa05410 | 6.21 |
| Arrhythmogenic right ventricular cardiomyopathy (ARVC) | hsa05412 | 6.32 |
| PI3K-Akt signaling pathway | hsa04151 | 4.21 |
| Dilated cardiomyopathy | hsa05414 | 6.08 |
| Regulation of actin cytoskeleton | hsa04810 | 4.9 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| ECM proteoglycans | R-HSA-3000178 | 6.75 |
| Elastic fibre formation | R-HSA-1566948 | 7.49 |
| Extracellular matrix organization | R-HSA-1474244 | 4.91 |
| Molecules associated with elastic fibres | R-HSA-2129379 | 7.73 |
| Integrin cell surface interactions | R-HSA-216083 | 6.57 |
| GO term | GO ID | GO IC |
|---|---|---|
| integrin binding | GO:0005178 | 5.07 |
| virus receptor activity | GO:0001618 | 5.49 |
| molecular transducer activity | GO:0060089 | 2.32 |
| macromolecular complex binding | GO:0044877 | 2.61 |
| receptor activity | GO:0004872 | 2.32 |
| protein binding | GO:0005515 | 0.46 |
| protein complex binding | GO:0032403 | 3.09 |
| receptor binding | GO:0005102 | 2.43 |
| cell adhesion molecule binding | GO:0050839 | 4.5 |
| binding | GO:0005488 | 0.18 |