| Disease ID | Disease name | Source of annotation with KRT14 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 131800 | EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED | ClinVar, OMIM, HUMSAVAR | link to OMIM | 3 | KRT14, ITGB4, KRT5 |
| 125595 | DERMATOPATHIA PIGMENTOSA RETICULARIS | ClinVar, OMIM | link to OMIM | 1 | KRT14 |
| 131900 | EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED | ClinVar, OMIM, HUMSAVAR | link to OMIM | 2 | KRT14, KRT5 |
| 601001 | EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1 | ClinVar, OMIM, HUMSAVAR | link to OMIM | 2 | KRT14, KRT5 |
| 131760 | EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 2 | KRT14, KRT5 |
| 161000 | NAEGELI SYNDROME | OMIM | link to OMIM | 1 | KRT14 |
Download the gene annotation in CSV format
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Cell-Cell communication | R-HSA-1500931 | 5.87 |
| Cell junction organization | R-HSA-446728 | 6.51 |
| Type I hemidesmosome assembly | R-HSA-446107 | 9.52 |
| GO term | GO ID | GO IC |
|---|---|---|
| structural constituent of cytoskeleton | GO:0005200 | 5.12 |
| intermediate filament binding | GO:0019215 | 7.1 |
| structural molecule activity | GO:0005198 | 3.1 |
| macromolecular complex binding | GO:0044877 | 2.61 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| protein complex binding | GO:0032403 | 3.09 |
| keratin filament binding | GO:1990254 | 8.13 |