Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7389
Gene Symbol: UROD
UROD
0.020 GeneticVariation disease BEFREE Most heterozygotes for URO-D mutations do not express a porphyric phenotype unless hepatic siderosis is present. 11134514 2001
Entrez Id: 7389
Gene Symbol: UROD
UROD
0.020 AlteredExpression disease BEFREE Subnormal activity of hepatic uroporphyrinogen decarboxylase is responsible for the derangement of porphyrin biosynthesis in both sporadic and familial porphyria cutanea tarda, but the enzymatic defect is not clinically expressed in the absence of hepatic siderosis. 3979748 1985