| PROTOPORPHYRIA, ERYTHROPOIETIC, 2 |
C4693947 |
CLPX
|
Causal
Pathogenic evidence from ClinVar
|
25957689, 28874591 |
ClinVar |
| PROTOPORPHYRIA, ERYTHROPOIETIC, 1 |
C4692546 |
FECH
|
Causal
Pathogenic evidence from ClinVar
|
1376018, 1755842, 7910885, 8757534, 9211198, 9585598, 9649563, 9740232, 10942404, 11375302, 12063482, 12601550, 15286165, 16385445, 17196862, 18787536, 19298273, 23364466, 27604308, 28093505, 28614581 |
ClinVar |
| Protoporphyria, Erythropoietic, X-Linked Dominant |
C2677889 |
ALAS2
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
10029606, 23263862, 29903433 |
- |