UROD, uroporphyrinogen decarboxylase, 7389

N. diseases: 166; N. variants: 31
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: rs121918066
rs121918066
Entrez Id: 7389
Gene Symbol: UROD
UROD
CUI: C0162566
Disease:
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
dbSNP: rs121918066
rs121918066
Entrez Id: 7389
Gene Symbol: UROD
UROD
CUI: C0162566
Disease:
Porphyria Cutanea Tarda 		0.800 GeneticVariation UNIPROT Functional consequences of naturally occurring mutations in human uroporphyrinogen decarboxylase. 11719352 2001
dbSNP: rs121918066
rs121918066
Entrez Id: 7389
Gene Symbol: UROD
UROD
CUI: C0162566
Disease:
Porphyria Cutanea Tarda 		0.800 GeneticVariation UNIPROT Co-inheritance of mutations in the uroporphyrinogen decarboxylase and hemochromatosis genes accelerates the onset of porphyria cutanea tarda. 11069625 2000
dbSNP: rs121918066
rs121918066
Entrez Id: 7389
Gene Symbol: UROD
UROD
CUI: C0162566
Disease:
Porphyria Cutanea Tarda 		0.800 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: rs121918066
rs121918066
Entrez Id: 7389
Gene Symbol: UROD
UROD
CUI: C0162566
Disease:
Porphyria Cutanea Tarda 		0.800 GeneticVariation UNIPROT Three new mutations in the uroporphyrinogen decarboxylase gene in familial porphyria cutanea tarda. Mutation in brief no. 237. Online. 10338097 1999
dbSNP: rs121918066
rs121918066
Entrez Id: 7389
Gene Symbol: UROD
UROD
CUI: C0162566
Disease:
Porphyria Cutanea Tarda 		0.800 GeneticVariation UNIPROT Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles. 9792863 1998
dbSNP: rs121918066
rs121918066
Entrez Id: 7389
Gene Symbol: UROD
UROD
CUI: C0162566
Disease:
Porphyria Cutanea Tarda 		0.800 GeneticVariation UNIPROT Five new mutations in the uroporphyrinogen decarboxylase gene identified in families with cutaneous porphyria. 8896428 1996
dbSNP: rs121918066
rs121918066
Entrez Id: 7389
Gene Symbol: UROD
UROD
CUI: C0162566
Disease:
Porphyria Cutanea Tarda 		0.800 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: rs121918066
rs121918066
Entrez Id: 7389
Gene Symbol: UROD
UROD
CUI: C0162566
Disease:
Porphyria Cutanea Tarda 		0.800 GeneticVariation UNIPROT Uroporphyrinogen decarboxylase: a splice site mutation causes the deletion of exon 6 in multiple families with porphyria cutanea tarda. 2243121 1990
dbSNP: rs121918066
rs121918066
Entrez Id: 7389
Gene Symbol: UROD
UROD
CUI: C0162566
Disease:
Porphyria Cutanea Tarda 		0.800 GeneticVariation UNIPROT A point mutation in the coding region of uroporphyrinogen decarboxylase associated with familial porphyria cutanea tarda. 2920211 1989
dbSNP: rs121918066
rs121918066
Entrez Id: 7389
Gene Symbol: UROD
UROD
CUI: C0162566
Disease:
Porphyria Cutanea Tarda 		A 0.800 CausalMutation CLINVAR