Disease Term Disease ID Gene Symbol Classification References Source
Familial porphyria cutanea tarda 443062, C0268323 UROD Causal Pathogenic evidence from ClinVar 19233912, 23545314 ClinVar
HFE Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Porphyria Cutanea Tarda C0162566 UROD Causal Pathogenic evidence from ClinVar 1634232, 1905636, 2243121, 2920211, 3775362, 7706766, 8176248, 8644733, 8896428, 9792863, 10338097, 10477430, 11069625, 11295834, 11719352, 12030801, 12071824, 15491440, 17240319, 17360334, 21668429 ClinVar
CPOX Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11831056 -
CYP1A2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11153915 -
HFE Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Porphyria Cutanea Tarda, Type I C1867968 UROD Causal Pathogenic evidence from ClinVar - ClinVar
Sporadic porphyria cutanea tarda 443057 HFE Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -