| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Ectodermal Dysplasia Type 7 (ECTD7, KRT74) | Hair & nail abnormalities | Autosomal Recessive | 12p11.1 | Missense | KRT74 | 821T>C | Phe274Ser | Amino Acid Substitution | 2014/Raykova et al., 2014 |
