Erythropoietic protoporphyria
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| AUTOSOMAL ERYTHROPOIETIC PROTOPORPHYRIA | FECH | Causal | GWAS catalog Orphanet | ||
| ERYTHROPOIETIC PROTOPORPHYRIA | ALAS2 | Unknown | — | Disgenet | |
| AREG | Unknown | — | Disgenet | ||
| BTC | Unknown | — | Disgenet | ||
| CLPX | Unknown | — | Disgenet | ||
| EREG | Unknown | — | Disgenet | ||
| FECH | Unknown | — | Disgenet | ||
| PROTOPORPHYRIA, ERYTHROPOIETIC | AREG | Unknown | CTD | ||
| BTC | Unknown | CTD | |||
| EREG | Unknown | CTD | |||
| FECH | Unknown | CTD | |||
| PROTOPORPHYRIA, ERYTHROPOIETIC, 1 | FECH | Causal | — | ClinGen ClinVar Disgenet GenCC HPO | |
| PROTOPORPHYRIA, ERYTHROPOIETIC, 2 | CLPX | Causal | ClinVar Disgenet GWAS catalog HPO | ||
| PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED | ALAS2 | Unknown | — | CTD HPO | |
| PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED DOMINANT | ALAS2 | Unknown | — | Disgenet |