rs121918057
×
Entrez Id:
7389
Gene Symbol:
UROD
UROD
Porphyria Cutanea Tarda
0.810
GeneticVariation
UNIPROT
Hepatoerythropoietic porphyria due to a novel mutation in the uroporphyrinogen decarboxylase gene.
21668429
2011
rs121918057
×
Entrez Id:
7389
Gene Symbol:
UROD
UROD
Porphyria Cutanea Tarda
0.810
GeneticVariation
UNIPROT
Two novel uroporphyrinogen decarboxylase (URO-D) mutations causing hepatoerythropoietic porphyria (HEP).
17240319
2007
rs121918057
×
Entrez Id:
7389
Gene Symbol:
UROD
UROD
Porphyria Cutanea Tarda
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
rs121918057
×
Entrez Id:
7389
Gene Symbol:
UROD
UROD
Porphyria Cutanea Tarda
0.810
GeneticVariation
UNIPROT
Description of a new mutation in hepatoerythropoietic porphyria and prenatal exclusion of a homozygous fetus.
12071824
2002
rs121918057
×
Entrez Id:
7389
Gene Symbol:
UROD
UROD
Porphyria Cutanea Tarda
0.810
GeneticVariation
UNIPROT
Functional consequences of naturally occurring mutations in human uroporphyrinogen decarboxylase.
11719352
2001
rs121918057
×
Entrez Id:
7389
Gene Symbol:
UROD
UROD
Porphyria Cutanea Tarda
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
rs121918057
×
Entrez Id:
7389
Gene Symbol:
UROD
UROD
Porphyria Cutanea Tarda
0.810
GeneticVariation
UNIPROT
Co-inheritance of mutations in the uroporphyrinogen decarboxylase and hemochromatosis genes accelerates the onset of porphyria cutanea tarda.
11069625
2000
rs121918057
×
Entrez Id:
7389
Gene Symbol:
UROD
UROD
Porphyria Cutanea Tarda
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
rs121918057
×
Entrez Id:
7389
Gene Symbol:
UROD
UROD
Porphyria Cutanea Tarda
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
rs121918057
×
Entrez Id:
7389
Gene Symbol:
UROD
UROD
Porphyria Cutanea Tarda
0.810
GeneticVariation
UNIPROT
Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles.
9792863
1998
rs121918057
×
Entrez Id:
7389
Gene Symbol:
UROD
UROD
Porphyria Cutanea Tarda
0.810
GeneticVariation
UNIPROT
Five new mutations in the uroporphyrinogen decarboxylase gene identified in families with cutaneous porphyria.
8896428
1996
rs121918057
×
Entrez Id:
7389
Gene Symbol:
UROD
UROD
Porphyria Cutanea Tarda
0.810
GeneticVariation
UNIPROT
Uroporphyrinogen decarboxylase: complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria.
8644733
1996
rs121918057
×
Entrez Id:
7389
Gene Symbol:
UROD
UROD
Porphyria Cutanea Tarda
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
rs121918057
×
Entrez Id:
7389
Gene Symbol:
UROD
UROD
Porphyria Cutanea Tarda
0.810
GeneticVariation
BEFREE
However, one G281E heterozygote in a family with hepatoerythropoietic porphyria had overt porphyria cutanea tarda .
7706766
1995
rs121918057
×
Entrez Id:
7389
Gene Symbol:
UROD
UROD
Porphyria Cutanea Tarda
0.810
GeneticVariation
UNIPROT
Molecular defects of uroporphyrinogen decarboxylase in a patient with mild hepatoerythropoietic porphyria.
8176248
1994
rs121918057
×
Entrez Id:
7389
Gene Symbol:
UROD
UROD
Porphyria Cutanea Tarda
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
rs121918057
×
Entrez Id:
7389
Gene Symbol:
UROD
UROD
Porphyria Cutanea Tarda
0.810
GeneticVariation
UNIPROT
Identification of a new mutation responsible for hepatoerythropoietic porphyria.
1905636
1991
rs121918057
×
Entrez Id:
7389
Gene Symbol:
UROD
UROD
Porphyria Cutanea Tarda
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
rs121918057
×
Entrez Id:
7389
Gene Symbol:
UROD
UROD
Porphyria Cutanea Tarda
0.810
GeneticVariation
UNIPROT
A point mutation in the coding region of uroporphyrinogen decarboxylase associated with familial porphyria cutanea tarda.
2920211
1989
rs121918057
×
Entrez Id:
7389
Gene Symbol:
UROD
UROD
Porphyria Cutanea Tarda
0.810
GeneticVariation
UNIPROT
Uroporphyrinogen decarboxylase structural mutant (Gly281----Glu) in a case of porphyria.
3775362
1986
rs121918057
×
Entrez Id:
7389
Gene Symbol:
UROD
UROD
Porphyria Cutanea Tarda
A
0.810
CausalMutation
CLINVAR
rs121918057
×
Entrez Id:
7389
Gene Symbol:
UROD
UROD
Porphyria Cutanea Tarda
T
0.810
CausalMutation
CLINVAR
rs121918063
×
Entrez Id:
7389
Gene Symbol:
UROD
UROD
Porphyria Cutanea Tarda
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
rs121918063
×
Entrez Id:
7389
Gene Symbol:
UROD
UROD
Porphyria Cutanea Tarda
0.800
GeneticVariation
UNIPROT
Functional consequences of naturally occurring mutations in human uroporphyrinogen decarboxylase.
11719352
2001
rs121918064
×
Entrez Id:
7389
Gene Symbol:
UROD
UROD
Porphyria Cutanea Tarda
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