Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3077
Gene Symbol: HFE
HFE 		0.600 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 7389
Gene Symbol: UROD
UROD 		0.900 GeneticVariation disease UNIPROT Molecular defects of uroporphyrinogen decarboxylase in a patient with mild hepatoerythropoietic porphyria. 8176248 1994
Entrez Id: 7389
Gene Symbol: UROD
UROD 		0.900 GeneticVariation disease UNIPROT Description of a new mutation in hepatoerythropoietic porphyria and prenatal exclusion of a homozygous fetus. 12071824 2002
Entrez Id: 7389
Gene Symbol: UROD
UROD 		0.900 GeneticVariation disease UNIPROT Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles. 9792863 1998
Entrez Id: 7389
Gene Symbol: UROD
UROD 		0.900 GeneticVariation disease UNIPROT Five new mutations in the uroporphyrinogen decarboxylase gene identified in families with cutaneous porphyria. 8896428 1996
Entrez Id: 7389
Gene Symbol: UROD
UROD 		0.900 GeneticVariation disease UNIPROT Uroporphyrinogen decarboxylase: a splice site mutation causes the deletion of exon 6 in multiple families with porphyria cutanea tarda. 2243121 1990
Entrez Id: 7389
Gene Symbol: UROD
UROD 		0.900 GeneticVariation disease UNIPROT Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria. 1634232 1992
Entrez Id: 7389
Gene Symbol: UROD
UROD 		0.900 GeneticVariation disease UNIPROT Uroporphyrinogen decarboxylase: complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria. 8644733 1996
Entrez Id: 7389
Gene Symbol: UROD
UROD 		0.900 GeneticVariation disease UNIPROT Hepatoerythropoietic porphyria: a missense mutation in the UROD gene is associated with mild disease and an unusual porphyrin excretion pattern. 15491440 2004
Entrez Id: 7389
Gene Symbol: UROD
UROD 		0.900 GeneticVariation disease UNIPROT Functional consequences of naturally occurring mutations in human uroporphyrinogen decarboxylase. 11719352 2001
Entrez Id: 7389
Gene Symbol: UROD
UROD 		0.900 GeneticVariation disease UNIPROT Two novel uroporphyrinogen decarboxylase (URO-D) mutations causing hepatoerythropoietic porphyria (HEP). 17240319 2007
Entrez Id: 7389
Gene Symbol: UROD
UROD 		0.900 GeneticVariation disease UNIPROT The established assay has proved able to detect the underlying UROD mutation in 10 previously characterized DNA samples as well as a new mutation in each of six previously unexamined PCT patients. 10477430 1999
Entrez Id: 7389
Gene Symbol: UROD
UROD 		0.900 GeneticVariation disease UNIPROT Co-inheritance of mutations in the uroporphyrinogen decarboxylase and hemochromatosis genes accelerates the onset of porphyria cutanea tarda. 11069625 2000
Entrez Id: 7389
Gene Symbol: UROD
UROD 		0.900 GeneticVariation disease UNIPROT A mutation (G281E) of the human uroporphyrinogen decarboxylase gene causes both hepatoerythropoietic porphyria and overt familial porphyria cutanea tarda: biochemical and genetic studies on Spanish patients. 7706766 1995
Entrez Id: 7389
Gene Symbol: UROD
UROD 		0.900 GeneticVariation disease UNIPROT This is the first URO-D mutation to be characterized in a pedigree with familial PCT. 2920211 1989
Entrez Id: 7389
Gene Symbol: UROD
UROD 		0.900 GeneticVariation disease UNIPROT Uroporphyrinogen decarboxylase structural mutant (Gly281----Glu) in a case of porphyria. 3775362 1986
Entrez Id: 7389
Gene Symbol: UROD
UROD 		0.900 GeneticVariation disease UNIPROT A deficiency in the activity of uroporphyrinogen decarboxylase (URO-D), the fifth enzyme of the haem biosynthetic pathway, is found in two hereditary diseases, familial porphyria cutanea tarda (PCT) and hepatoerythropoietic porphyria (HEP). 1905636 1991
Entrez Id: 7389
Gene Symbol: UROD
UROD 		0.900 GeneticVariation disease UNIPROT Three new mutations in the uroporphyrinogen decarboxylase gene in familial porphyria cutanea tarda. Mutation in brief no. 237. Online. 10338097 1999
Entrez Id: 7389
Gene Symbol: UROD
UROD 		0.900 GeneticVariation disease UNIPROT These results suggest a molecular heterogeneity at the UROD locus in Italian PCT patients although recurrent mutations have been identified. 11295834 2001
Entrez Id: 7389
Gene Symbol: UROD
UROD 		0.900 GeneticVariation disease UNIPROT Hepatoerythropoietic porphyria due to a novel mutation in the uroporphyrinogen decarboxylase gene. 21668429 2011
Entrez Id: 7389
Gene Symbol: UROD
UROD 		0.900 Biomarker disease RGD The decrease in uroporphyrinogen decarboxylase activity induced by ethanol predisposes rats to the development of porphyria and accelerates xenobiotic-triggered porphyria, regardless of hepatic damage. 12426626 2002
Entrez Id: 7389
Gene Symbol: UROD
UROD 		0.900 GeneticVariation disease LHGDN Porphyria cutanea tarda (PCT) results from a decreased activity of uroporphyrinogen decarboxylase, the fifth enzyme in heme biosynthesis. 15186324 2004
Entrez Id: 7389
Gene Symbol: UROD
UROD 		0.900 GeneticVariation disease LHGDN Human gene mutations. Gene symbol: UROD. Disease: Porphyria, cutanea tarda. 15046048 2004
Entrez Id: 7389
Gene Symbol: UROD
UROD 		0.900 GeneticVariation disease LHGDN Erythrocyte UROD activity measurement and mutation analysis of the UROD gene were carried out in a cohort of 61 unrelated Spanish patients with PCT and 50 control individuals. 17627795 2007
Entrez Id: 3077
Gene Symbol: HFE
HFE 		0.600 Biomarker disease LHGDN Association of porphyria cutanea tarda with hereditary hemochromatosis. 15280838 2004