UROD, uroporphyrinogen decarboxylase, 7389

N. diseases: 166; N. variants: 31
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1263733
Disease: Uroporphyrinuria
Uroporphyrinuria
0.020 AlteredExpression disease BEFREE Mouse models have been used to explore the relative importance of a variety of agents such as 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD), alcohol, and iron in the development of uroporphyria and to elucidate the mechanism of the depression of hepatic UROD activity. 20099833 2010
CUI: C1263733
Disease: Uroporphyrinuria
Uroporphyrinuria
0.020 GeneticVariation disease BEFREE Aryl hydrocarbon receptor ligands, such as polychlorinated biphenyls (PCBs), cause inhibition of the heme biosynthesis enzyme, uroporphyrinogen decarboxylase; this leads to uroporphyria and hepatic tumors, which are markedly enhanced by iron overload in C57BL/10 and C57BL/6 strains of mice. 15845371 2005