Disease ID | Disease name | Source of annotation with COL4A6 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS304500 | DEAFNESS, X-LINKED | ClinVar, OMIM, HUMSAVAR | link to OMIM | 5 | PRPS1, SMPX, AIFM1, POU3F4, COL4A6 |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Protein digestion and absorption | hsa04974 | 6.2 |
Pathways in cancer | hsa05200 | 3.98 |
Amoebiasis | hsa05146 | 5.82 |
Small cell lung cancer | hsa05222 | 6.17 |
Focal adhesion | hsa04510 | 4.92 |
ECM-receptor interaction | hsa04512 | 6.09 |
PI3K-Akt signaling pathway | hsa04151 | 4.21 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Integrin cell surface interactions | R-HSA-216083 | 6.57 |
Laminin interactions | R-HSA-3000157 | 8.08 |
Anchoring fibril formation | R-HSA-2214320 | 9.08 |
Degradation of the extracellular matrix | R-HSA-1474228 | 6.11 |
Collagen degradation | R-HSA-1442490 | 7.03 |
ECM proteoglycans | R-HSA-3000178 | 6.75 |
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 |
Collagen biosynthesis and modifying enzymes | R-HSA-1650814 | 6.98 |
GO term | GO ID | GO IC |
---|---|---|
extracellular matrix structural constituent | GO:0005201 | 5.37 |
structural molecule activity | GO:0005198 | 3.1 |