| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Palmoplantar Keratoderma Epidermolytic (KRT9) | Diffuse thick skin of palms & soles etc | Autosomal Dominant | 17q21.2 | Missense | KRT9 | 470T>A | Met157Lys | Amino Acid Substitution | 0/Shimomura et al., 2010 |
| Palmoplantar Keratoderma Epidermolytic (KRT9) | Diffuse thick skin of palms & soles etc | Autosomal Dominant | 17q21.2 | Missense | KRT9 | 470T>C | Met157Thr | Amino Acid Substitution | 0/Shimomura et al., 2010 |
| Palmoplantar Keratoderma Epidermolytic (KRT9) | Diffuse thick skin of palms & soles etc | Autosomal Dominant | 17q21.2 | Missense | KRT9 | 488G>A | Arg163Gln | Amino Acid Substitution | 0/Shimomura et al., 2010 |
| Palmoplantar Keratoderma Epidermolytic (KRT9) | Diffuse thick skin of palms & soles etc | Autosomal Dominant | 17q21.2 | Missense | KRT9 | 1360T>C | Tyr454His | Amino Acid Substitution | 0/Shimomura et al., 2010 |
