UROD, uroporphyrinogen decarboxylase, 7389

N. diseases: 166; N. variants: 31
Disease: Porphyria Cutanea Tarda, Type I ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1867968
Disease: Porphyria Cutanea Tarda, Type I
Porphyria Cutanea Tarda, Type I 		0.110 GeneticVariation disease BEFREE Identification of a form of familial PCT in which the activity and concentration of erythrocyte UROD is normal, as in type I or sporadic PCT, suggests than an autosomal gene, not necessarily at the UROD locus, may be important in determining the onset of type I PCT. 2786774 1989
CUI: C1867968
Disease: Porphyria Cutanea Tarda, Type I
Porphyria Cutanea Tarda, Type I 		0.110 CausalMutation disease CLINVAR