Porphyria

Disease Term Disease ID Gene Symbol Classification References Source
Porphyria, Acute Intermittent, Nonerythroid Variant C1867969 HMBS Causal Pathogenic evidence from ClinVar - ClinVar
Porphyria due to ALA dehydratase deficiency 100924 ALAD Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Disorders of Porphyrin Metabolism C0032708 ALAS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9222176 -
Porphyria, South African type C2936913 HFE Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PPOX Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -