Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918057
rs121918057
UROD
0.810 GeneticVariation UNIPROT Hepatoerythropoietic porphyria due to a novel mutation in the uroporphyrinogen decarboxylase gene. 21668429

2011
dbSNP: rs121918057
rs121918057
UROD
0.810 GeneticVariation UNIPROT Two novel uroporphyrinogen decarboxylase (URO-D) mutations causing hepatoerythropoietic porphyria (HEP). 17240319

2007
dbSNP: rs121918057
rs121918057
UROD
0.810 GeneticVariation UNIPROT Hepatoerythropoietic porphyria: a missense mutation in the UROD gene is associated with mild disease and an unusual porphyrin excretion pattern. 15491440

2004
dbSNP: rs121918057
rs121918057
UROD
0.810 GeneticVariation UNIPROT Description of a new mutation in hepatoerythropoietic porphyria and prenatal exclusion of a homozygous fetus. 12071824

2002
dbSNP: rs121918057
rs121918057
UROD
0.810 GeneticVariation UNIPROT Functional consequences of naturally occurring mutations in human uroporphyrinogen decarboxylase. 11719352

2001
dbSNP: rs121918057
rs121918057
UROD
0.810 GeneticVariation UNIPROT Seven novel point mutations in the uroporphyrinogen decarboxylase (UROD) gene in patients with familial porphyria cutanea tarda (f-PCT). 11295834

2001
dbSNP: rs121918057
rs121918057
UROD
0.810 GeneticVariation UNIPROT Co-inheritance of mutations in the uroporphyrinogen decarboxylase and hemochromatosis genes accelerates the onset of porphyria cutanea tarda. 11069625

2000
dbSNP: rs121918057
rs121918057
UROD
0.810 GeneticVariation UNIPROT Screening for mutations in the uroporphyrinogen decarboxylase gene using denaturing gradient gel electrophoresis. Identification and characterization of six novel mutations associated with familial PCT. 10477430

1999
dbSNP: rs121918057
rs121918057
UROD
0.810 GeneticVariation UNIPROT Three new mutations in the uroporphyrinogen decarboxylase gene in familial porphyria cutanea tarda. Mutation in brief no. 237. Online. 10338097

1999
dbSNP: rs121918057
rs121918057
UROD
0.810 GeneticVariation UNIPROT Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles. 9792863

1998
dbSNP: rs121918057
rs121918057
UROD
0.810 GeneticVariation UNIPROT Five new mutations in the uroporphyrinogen decarboxylase gene identified in families with cutaneous porphyria. 8896428

1996
dbSNP: rs121918057
rs121918057
UROD
0.810 GeneticVariation UNIPROT Uroporphyrinogen decarboxylase: complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria. 8644733

1996
dbSNP: rs121918057
rs121918057
UROD
0.810 GeneticVariation 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
dbSNP: rs121918057
rs121918057
UROD
0.810 GeneticVariation BEFREE However, one G281E heterozygote in a family with hepatoerythropoietic porphyria had overt porphyria cutanea tarda. 7706766

1995
dbSNP: rs121918057
rs121918057
UROD
0.810 GeneticVariation UNIPROT Molecular defects of uroporphyrinogen decarboxylase in a patient with mild hepatoerythropoietic porphyria. 8176248

1994
dbSNP: rs121918057
rs121918057
UROD
0.810 GeneticVariation UNIPROT Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria. 1634232

1992
dbSNP: rs121918057
rs121918057
UROD
0.810 GeneticVariation UNIPROT Identification of a new mutation responsible for hepatoerythropoietic porphyria. 1905636

1991
dbSNP: rs121918057
rs121918057
UROD
0.810 GeneticVariation UNIPROT Uroporphyrinogen decarboxylase: a splice site mutation causes the deletion of exon 6 in multiple families with porphyria cutanea tarda. 2243121

1990
dbSNP: rs121918057
rs121918057
UROD
0.810 GeneticVariation UNIPROT A point mutation in the coding region of uroporphyrinogen decarboxylase associated with familial porphyria cutanea tarda. 2920211

1989
dbSNP: rs121918057
rs121918057
UROD
0.810 GeneticVariation UNIPROT Uroporphyrinogen decarboxylase structural mutant (Gly281----Glu) in a case of porphyria. 3775362

1986
dbSNP: rs121918057
rs121918057
UROD
A 0.810 CausalMutation CLINVAR

dbSNP: rs121918057
rs121918057
UROD
T 0.810 CausalMutation CLINVAR

dbSNP: rs121918063
rs121918063
UROD
0.800 GeneticVariation UNIPROT Seven novel point mutations in the uroporphyrinogen decarboxylase (UROD) gene in patients with familial porphyria cutanea tarda (f-PCT). 11295834

2001
dbSNP: rs121918063
rs121918063
UROD
0.800 GeneticVariation UNIPROT Functional consequences of naturally occurring mutations in human uroporphyrinogen decarboxylase. 11719352

2001
dbSNP: rs121918064
rs121918064
UROD
0.800 GeneticVariation UNIPROT Seven novel point mutations in the uroporphyrinogen decarboxylase (UROD) gene in patients with familial porphyria cutanea tarda (f-PCT). 11295834

2001