Gene: PPOX ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918324
rs121918324
PPOX
0.880 GeneticVariation UNIPROT Quantitative structural insight into human variegate porphyria disease. 23467411

2013
dbSNP: rs121918324
rs121918324
PPOX
0.880 GeneticVariation UNIPROT Homozygous variegate porphyria presenting with developmental and language delay in childhood. 24073655

2013
dbSNP: rs121918324
rs121918324
PPOX
0.880 GeneticVariation UNIPROT Functional Characterization of Five Protoporphyrinogen oxidase Missense Mutations Found in Argentinean Variegate Porphyria Patients. 23430901

2012
dbSNP: rs121918324
rs121918324
PPOX
0.880 GeneticVariation UNIPROT Novel human pathological mutations. Gene symbol: PPOX. Disease: porphyria, variegate. 19320019

2009
dbSNP: rs121918324
rs121918324
PPOX
0.880 GeneticVariation UNIPROT Genetic and biochemical studies in Argentinean patients with variegate porphyria. 18570668

2008
dbSNP: rs121918324
rs121918324
PPOX
0.880 GeneticVariation UNIPROT Genetic studies in variegate porphyria in Spain. Identification of gene mutations and family study for carrier detection. 16922948

2006
dbSNP: rs121918324
rs121918324
PPOX
0.880 GeneticVariation UNIPROT A Chilean boy with severe photosensitivity and finger shortening: the first case of homozygous variegate porphyria in South America. 16433813

2006
dbSNP: rs121918324
rs121918324
PPOX
0.880 GeneticVariation UNIPROT Genetic analysis of variegate porphyria (VP) in Italy: identification of six novel mutations in the protoporphyrinogen oxidase (PPOX) gene. 12655566

2003
dbSNP: rs121918324
rs121918324
PPOX
0.880 GeneticVariation UNIPROT The R59W founder mutation responsible for over 90% of variegate porphyria in South Africa was excluded. 12380696

2003
dbSNP: rs121918324
rs121918324
PPOX
0.880 GeneticVariation UNIPROT Nine novel mutations in the protoporphyrinogen oxidase gene in Swedish families with variegate porphyria. 12859407

2003
dbSNP: rs121918324
rs121918324
PPOX
0.880 GeneticVariation UNIPROT A spectrum of novel mutations in the protoporphyrinogen oxidase gene in 13 families with variegate porphyria. 11348478

2001
dbSNP: rs121918324
rs121918324
PPOX
0.880 GeneticVariation UNIPROT Here we investigate the molecular basis of variegate porphyria in four non-R59W South African families. 11350188

2001
dbSNP: rs121918324
rs121918324
PPOX
0.880 GeneticVariation UNIPROT Homozygous variegate porphyria: 20 y follow-up and characterization of molecular defect. 11286631

2001
dbSNP: rs121918324
rs121918324
PPOX
0.880 GeneticVariation UNIPROT Expression and characterization of six mutations in the protoporphyrinogen oxidase gene among Finnish variegate porphyria patients. 11474578

2001
dbSNP: rs121918324
rs121918324
PPOX
0.880 GeneticVariation UNIPROT Homozygous variegate porphyria in South Africa: genotypic analysis in two cases. 10870850

2000
dbSNP: rs121918324
rs121918324
PPOX
0.880 GeneticVariation UNIPROT Two new mutations (H106P and L178V) in the protoporphyrinogen oxidase gene in Argentinean patients with variegate porphyria. 11102990

2000
dbSNP: rs121918324
rs121918324
PPOX
0.880 GeneticVariation UNIPROT Three novel mutations in the protoporphyrinogen oxidase gene in Japanese patients with variegate porphyria. 11074242

2000
dbSNP: rs121918324
rs121918324
PPOX
0.880 GeneticVariation UNIPROT Molecular basis of variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene. 9541112

1998
dbSNP: rs121918324
rs121918324
PPOX
0.880 GeneticVariation UNIPROT Mutation R59W, identified in the majority of South African VP families, was shown to create a Styl restriction site, while mutation R168C would abolish a Dsal restriction site in genomic DNA of affected individuals. 8817334

1996
dbSNP: rs121918324
rs121918324
PPOX
0.880 GeneticVariation UNIPROT The R59W mutation was present in 43 of 45 patients with VP from 26 of 27 South African families investigated, but not in 34 unaffected relatives or 9 unrelated British patients with PPO deficiency. 8673113

1996
dbSNP: rs121918323
rs121918323
PPOX
0.800 GeneticVariation UNIPROT Homozygous variegate porphyria presenting with developmental and language delay in childhood. 24073655

2013
dbSNP: rs121918323
rs121918323
PPOX
0.800 GeneticVariation UNIPROT Quantitative structural insight into human variegate porphyria disease. 23467411

2013
dbSNP: rs121918325
rs121918325
PPOX
0.800 GeneticVariation UNIPROT Homozygous variegate porphyria presenting with developmental and language delay in childhood. 24073655

2013
dbSNP: rs121918325
rs121918325
PPOX
0.800 GeneticVariation UNIPROT Quantitative structural insight into human variegate porphyria disease. 23467411

2013
dbSNP: rs121918326
rs121918326
PPOX
0.800 GeneticVariation UNIPROT Quantitative structural insight into human variegate porphyria disease. 23467411

2013