| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.730 | GeneticVariation | BEFREE | Familial porphyria cutanea tarda in Spain: characterization of eight novel mutations in the UROD gene and haplotype analysis of the common p.G281E mutation. | 23545314 | 2013 |
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|
A | 0.730 | CausalMutation | CLINVAR | Familial porphyria cutanea tarda in Spain: characterization of eight novel mutations in the UROD gene and haplotype analysis of the common p.G281E mutation. | 23545314 | 2013 |
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|
0.730 | GeneticVariation | BEFREE | At least 30 different mutations of the UROD gene have been identified in patients with HEP and familial porphyria cutanea tarda, with 1 predominant missense mutation (glycine-to-glutamic acid substitution at codon 281) in Spanish patients with HEP. | 12071824 | 2002 |
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|
0.730 | GeneticVariation | BEFREE | These findings suggest that the G281E mutation is functionally less severe than erythrocyte measurements indicate, that its clinical penetrance is very low in heterozygotes, and that, for this particular mutation, hepatoerythropoietic porphyria is the homozygous form of familial porphyria cutanea tarda. | 7706766 | 1995 |
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|
C | 0.700 | CausalMutation | CLINVAR | Familial and sporadic porphyria cutanea tarda: characterization and diagnostic strategies. | 19233912 | 2009 |
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|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
0.010 | GeneticVariation | BEFREE | Homozygosity for the C282Y hemochromatosis mutation was associated with an earlier onset of skin lesions in both familial and sporadic porphyria cutanea tarda, the effect being more marked in familial porphyria cutanea tarda where anticipation was demonstrated in family studies. | 11069625 | 2000 |
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|
0.010 | GeneticVariation | BEFREE | The R292G mutation was not detected in 13 unrelated affected patients with F-PCT, so it appears to be uncommon. | 1634232 | 1992 |