Pachyonychia congenita
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| PACHYONYCHIA CONGENITA | KRT16 | Unknown | CTD Disgenet Orphanet | ||
| KRT17 | Unknown | CTD Disgenet GWAS catalog Orphanet | |||
| KRT6A | Unknown | CTD Disgenet GWAS catalog Orphanet | |||
| KRT6B | Unknown | CTD Disgenet Orphanet | |||
| PACHYONYCHIA CONGENITA 1 | KRT16 | Causal | — | ClinVar GenCC HPO | |
| KRT6A | Unknown | — | ClinVar | ||
| PACHYONYCHIA CONGENITA 2 | KRT17 | Causal | ClinVar HPO | ||
| KRT6B | Unknown | — | ClinVar | ||
| PACHYONYCHIA CONGENITA 3 | KRT6A | Causal | — | ClinVar Disgenet GenCC HPO | |
| PACHYONYCHIA CONGENITA 4 | KRT6B | Causal | — | ClinVar Disgenet GenCC HPO | |
| PACHYONYCHIA CONGENITA, JADASSOHN LEWANDOWSKY TYPE | KRT16 | Unknown | — | Disgenet | |
| KRT17 | Unknown | — | Disgenet | ||
| KRT6A | Unknown | — | Disgenet | ||
| KRT6B | Unknown | — | Disgenet | ||
| PACHYONYCHIA CONGENITA, TYPE 2 | KRT16 | Unknown | — | Disgenet | |
| KRT17 | Unknown | — | Disgenet | ||
| KRT6A | Unknown | — | Disgenet | ||
| KRT6B | Unknown | — | Disgenet |