Gene | Associated with EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION in | Link to HGNC | Cytogenetic band | Number of associated diseases | Associated diseases |
---|---|---|---|---|---|
KRT5 | ClinVar, OMIM, HUMSAVAR | HGNC link | 12q13.13 | 7 | 601001, 131800, 131900, 131960, 609352, 131760, PS179850 |