| Disease ID | Disease name | Source of annotation with COL7A1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 131705 | TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | COL7A1 |
| PS161050 | NAIL DISORDER, NONSYNDROMIC CONGENITAL | ClinVar, OMIM, HUMSAVAR | link to OMIM | 4 | PLCD1, FZD6, RSPO4, COL7A1 |
| 131850 | EPIDERMOLYSIS BULLOSA DYSTROPHICA, PRETIBIAL | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | COL7A1 |
| 132000 | EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND DEFORMITY OF NAILS | ClinVar, OMIM | link to OMIM | 1 | COL7A1 |
| 604129 | EPIDERMOLYSIS BULLOSA PRURIGINOSA | OMIM, HUMSAVAR | link to OMIM | 1 | COL7A1 |
| 131750 | EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | COL7A1 |
| 226600 | EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 2 | MMP1, COL7A1 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Protein digestion and absorption | hsa04974 | 6.2 |
| 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 |
| Extracellular matrix organization | R-HSA-1474244 | 4.91 |
| Collagen formation | R-HSA-1474290 | 6.56 |
| 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 |
|---|---|---|
| peptidase inhibitor activity | GO:0030414 | 4.55 |
| enzyme regulator activity | GO:0030234 | 2.85 |
| peptidase regulator activity | GO:0061134 | 4.37 |
| protein binding | GO:0005515 | 0.46 |
| 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 |
| identical protein binding | GO:0042802 | 2.63 |
| binding | GO:0005488 | 0.18 |