Dowling degos disease
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| DOWLING-DEGOS DISEASE | ADAM10 | Unknown | — | CTD Disgenet | |
| KRT5 | Unknown | CTD Disgenet GWAS catalog Orphanet | |||
| POFUT1 | Unknown | CTD Disgenet Orphanet | |||
| POGLUT1 | Unknown | CTD Disgenet GWAS catalog Orphanet | |||
| PSENEN | Unknown | Disgenet HPO Orphanet | |||
| DOWLING-DEGOS DISEASE 1 | KRT5 | Causal | ClinVar Disgenet GWAS catalog HPO | ||
| DOWLING-DEGOS DISEASE 2 | POFUT1 | Causal | ClinGen ClinVar Disgenet HPO | ||
| DOWLING-DEGOS DISEASE 4 | POGLUT1 | Causal | ClinVar Disgenet GWAS catalog HPO |