| Disease ID | Disease name | Source of annotation with LAMB3 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 226650 | EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 5 | ITGB4, COL17A1, LAMB3, LAMA3, LAMC2 |
| PS104500 | AMELOGENESIS IMPERFECTA | ClinVar, OMIM | link to OMIM | 12 | C4orf26, AMELX, MMP20, SLC24A4, DLX3, FAM83H, ITGB6, FAM20A, WDR72, KLK4, LAMB3, ENAM |
| 226700 | EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 3 | LAMB3, LAMA3, LAMC2 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Pathways in cancer | hsa05200 | 3.98 |
| Amoebiasis | hsa05146 | 5.82 |
| Small cell lung cancer | hsa05222 | 6.17 |
| Focal adhesion | hsa04510 | 4.92 |
| Toxoplasmosis | hsa05145 | 5.71 |
| ECM-receptor interaction | hsa04512 | 6.09 |
| PI3K-Akt signaling pathway | hsa04151 | 4.21 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Laminin interactions | R-HSA-3000157 | 8.08 |
| Anchoring fibril formation | R-HSA-2214320 | 9.08 |
| Cell junction organization | R-HSA-446728 | 6.51 |
| Degradation of the extracellular matrix | R-HSA-1474228 | 6.11 |
| Cell-Cell communication | R-HSA-1500931 | 5.87 |
| Extracellular matrix organization | R-HSA-1474244 | 4.91 |
| Collagen formation | R-HSA-1474290 | 6.56 |
| Non-integrin membrane-ECM interactions | R-HSA-3000171 | 7.1 |
| Assembly of collagen fibrils and other multimeric structures | R-HSA-2022090 | 7.2 |
| Type I hemidesmosome assembly | R-HSA-446107 | 9.52 |
| GO term | GO ID | GO IC |
|---|---|---|
| protein complex binding | GO:0032403 | 3.09 |
| macromolecular complex binding | GO:0044877 | 2.61 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| structural molecule activity | GO:0005198 | 3.1 |