Disease Term Disease ID Gene Symbol Classification References Source
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 -