Variegate porphyria
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Porphyria variegata | 79473 | PPOX | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| Variegate Porphyria | C0162532 | PPOX | Causal Pathogenic evidence from ClinVar | 1946837, 8673113, 8817334, 8852667, 9541112, 9763307, 9811936, 10486317, 10870850, 11074242, 11102990, 11286631, 11298551, 11348478, 11350188, 11474578, 12380696, 12655566, 12859407, 12922165, 14669009, 16433813, 16621625, 16922948, 16947091, 18350656, 18570668, 19320019, 21048046, 23430901, 23467411, 24073655 | ClinVar |
| HFE | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - |