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 |