| Disease ID | Disease name | Source of annotation with COL6A3 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS158810 | BETHLEM MYOPATHY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 4 | COL6A2, COL12A1, COL6A3, COL6A1 |
| PS128100 | DYSTONIA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 18 | DRD2, GNAL, ANO3, SLC2A1, KCTD17, HPCA, THAP1, GCH1, PRRT2, ATP1A3, PNKD, PRKRA, COL6A3, TOR1A, CACNA1B, SGCE, TAF1, TUBB4A |
| PS254090 | ULLRICH CONGENITAL MUSCULAR DYSTROPHY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 4 | COL6A2, COL12A1, COL6A3, COL6A1 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Protein digestion and absorption | hsa04974 | 6.2 |
| ECM-receptor interaction | hsa04512 | 6.09 |
| Focal adhesion | hsa04510 | 4.92 |
| PI3K-Akt signaling pathway | hsa04151 | 4.21 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Integrin cell surface interactions | R-HSA-216083 | 6.57 |
| Degradation of the extracellular matrix | R-HSA-1474228 | 6.11 |
| Collagen degradation | R-HSA-1442490 | 7.03 |
| ECM proteoglycans | R-HSA-3000178 | 6.75 |
| NCAM signaling for neurite out-growth | R-HSA-375165 | 4.9 |
| NCAM1 interactions | R-HSA-419037 | 7.59 |
| Extracellular matrix organization | R-HSA-1474244 | 4.91 |
| Collagen formation | R-HSA-1474290 | 6.56 |
| Signal Transduction | R-HSA-162582 | 1.78 |
| Signaling by PDGF | R-HSA-186797 | 4.53 |
| Axon guidance | R-HSA-422475 | 3.93 |
| Assembly of collagen fibrils and other multimeric structures | R-HSA-2022090 | 7.2 |
| Collagen biosynthesis and modifying enzymes | R-HSA-1650814 | 6.98 |
| Developmental Biology | R-HSA-1266738 | 3.48 |
| GO term | GO ID | GO IC |
|---|---|---|
| peptidase inhibitor activity | GO:0030414 | 4.55 |
| enzyme regulator activity | GO:0030234 | 2.85 |
| peptidase regulator activity | GO:0061134 | 4.37 |
| endopeptidase inhibitor activity | GO:0004866 | 4.6 |
| serine-type endopeptidase inhibitor activity | GO:0004867 | 5.16 |
| enzyme inhibitor activity | GO:0004857 | 3.78 |
| molecular function regulator | GO:0098772 | 2.51 |
| endopeptidase regulator activity | GO:0061135 | 4.57 |