Disease: Porphyria Cutanea Tarda ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918060
rs121918060
Entrez Id: 7389;79654
Gene Symbol: UROD;HECTD3
UROD;HECTD3
CUI: C0162566
Disease:
Porphyria Cutanea Tarda 		0.700 GeneticVariation UNIPROT Hepatoerythropoietic porphyria due to a novel mutation in the uroporphyrinogen decarboxylase gene. 21668429 2011
dbSNP: rs121918060
rs121918060
Entrez Id: 7389;79654
Gene Symbol: UROD;HECTD3
UROD;HECTD3
CUI: C0162566
Disease:
Porphyria Cutanea Tarda 		0.700 GeneticVariation UNIPROT Two novel uroporphyrinogen decarboxylase (URO-D) mutations causing hepatoerythropoietic porphyria (HEP). 17240319 2007
dbSNP: rs121918060
rs121918060
Entrez Id: 7389;79654
Gene Symbol: UROD;HECTD3
UROD;HECTD3
CUI: C0162566
Disease:
Porphyria Cutanea Tarda 		0.700 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: rs121918060
rs121918060
Entrez Id: 7389;79654
Gene Symbol: UROD;HECTD3
UROD;HECTD3
CUI: C0162566
Disease:
Porphyria Cutanea Tarda 		0.700 GeneticVariation UNIPROT Description of a new mutation in hepatoerythropoietic porphyria and prenatal exclusion of a homozygous fetus. 12071824 2002
dbSNP: rs121918060
rs121918060
Entrez Id: 7389;79654
Gene Symbol: UROD;HECTD3
UROD;HECTD3
CUI: C0162566
Disease:
Porphyria Cutanea Tarda 		0.700 GeneticVariation UNIPROT Uroporphyrinogen decarboxylase: complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria. 8644733 1996
dbSNP: rs121918060
rs121918060
Entrez Id: 7389;79654
Gene Symbol: UROD;HECTD3
UROD;HECTD3
CUI: C0162566
Disease:
Porphyria Cutanea Tarda 		0.700 GeneticVariation UNIPROT Five new mutations in the uroporphyrinogen decarboxylase gene identified in families with cutaneous porphyria. 8896428 1996
dbSNP: rs121918060
rs121918060
Entrez Id: 7389;79654
Gene Symbol: UROD;HECTD3
UROD;HECTD3
CUI: C0162566
Disease:
Porphyria Cutanea Tarda 		0.700 GeneticVariation UNIPROT Molecular defects of uroporphyrinogen decarboxylase in a patient with mild hepatoerythropoietic porphyria. 8176248 1994
dbSNP: rs121918060
rs121918060
Entrez Id: 7389;79654
Gene Symbol: UROD;HECTD3
UROD;HECTD3
CUI: C0162566
Disease:
Porphyria Cutanea Tarda 		0.700 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: rs121918060
rs121918060
Entrez Id: 7389;79654
Gene Symbol: UROD;HECTD3
UROD;HECTD3
CUI: C0162566
Disease:
Porphyria Cutanea Tarda 		0.700 GeneticVariation UNIPROT Identification of a new mutation responsible for hepatoerythropoietic porphyria. 1905636 1991
dbSNP: rs121918060
rs121918060
Entrez Id: 7389;79654
Gene Symbol: UROD;HECTD3
UROD;HECTD3
CUI: C0162566
Disease:
Porphyria Cutanea Tarda 		0.700 GeneticVariation UNIPROT Uroporphyrinogen decarboxylase structural mutant (Gly281----Glu) in a case of porphyria. 3775362 1986