PPOX, protoporphyrinogen oxidase, 5498

N. diseases: 53; N. variants: 28
Disease: Variegate Porphyria ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs141274934
rs141274934
Entrez Id: 5498
Gene Symbol: PPOX
PPOX
CUI: C0162532
Disease:
Variegate Porphyria 		0.700 GeneticVariation UNIPROT Homozygous variegate porphyria presenting with developmental and language delay in childhood. 24073655 2013
dbSNP: rs141274934
rs141274934
Entrez Id: 5498
Gene Symbol: PPOX
PPOX
CUI: C0162532
Disease:
Variegate Porphyria 		0.700 GeneticVariation UNIPROT Quantitative structural insight into human variegate porphyria disease. 23467411 2013
dbSNP: rs141274934
rs141274934
Entrez Id: 5498
Gene Symbol: PPOX
PPOX
CUI: C0162532
Disease:
Variegate Porphyria 		0.700 GeneticVariation UNIPROT Functional Characterization of Five Protoporphyrinogen oxidase Missense Mutations Found in Argentinean Variegate Porphyria Patients. 23430901 2012
dbSNP: rs141274934
rs141274934
Entrez Id: 5498
Gene Symbol: PPOX
PPOX
CUI: C0162532
Disease:
Variegate Porphyria 		0.700 GeneticVariation UNIPROT Novel human pathological mutations. Gene symbol: PPOX. Disease: porphyria, variegate. 19320019 2009
dbSNP: rs141274934
rs141274934
Entrez Id: 5498
Gene Symbol: PPOX
PPOX
CUI: C0162532
Disease:
Variegate Porphyria 		0.700 GeneticVariation UNIPROT Genetic and biochemical studies in Argentinean patients with variegate porphyria. 18570668 2008
dbSNP: rs141274934
rs141274934
Entrez Id: 5498
Gene Symbol: PPOX
PPOX
CUI: C0162532
Disease:
Variegate Porphyria 		0.700 GeneticVariation UNIPROT Genetic studies in variegate porphyria in Spain. Identification of gene mutations and family study for carrier detection. 16922948 2006
dbSNP: rs141274934
rs141274934
Entrez Id: 5498
Gene Symbol: PPOX
PPOX
CUI: C0162532
Disease:
Variegate Porphyria 		0.700 GeneticVariation UNIPROT A Chilean boy with severe photosensitivity and finger shortening: the first case of homozygous variegate porphyria in South America. 16433813 2006
dbSNP: rs141274934
rs141274934
Entrez Id: 5498
Gene Symbol: PPOX
PPOX
CUI: C0162532
Disease:
Variegate Porphyria 		0.700 GeneticVariation UNIPROT Genetic analysis of variegate porphyria (VP) in Italy: identification of six novel mutations in the protoporphyrinogen oxidase (PPOX) gene. 12655566 2003
dbSNP: rs141274934
rs141274934
Entrez Id: 5498
Gene Symbol: PPOX
PPOX
CUI: C0162532
Disease:
Variegate Porphyria 		0.700 GeneticVariation UNIPROT Variegate porphyria in Western Australian Aboriginal patients. 12380696 2003
dbSNP: rs141274934
rs141274934
Entrez Id: 5498
Gene Symbol: PPOX
PPOX
CUI: C0162532
Disease:
Variegate Porphyria 		0.700 GeneticVariation UNIPROT Nine novel mutations in the protoporphyrinogen oxidase gene in Swedish families with variegate porphyria. 12859407 2003
dbSNP: rs141274934
rs141274934
Entrez Id: 5498
Gene Symbol: PPOX
PPOX
CUI: C0162532
Disease:
Variegate Porphyria 		0.700 GeneticVariation UNIPROT Homozygous variegate porphyria: 20 y follow-up and characterization of molecular defect. 11286631 2001
dbSNP: rs141274934
rs141274934
Entrez Id: 5498
Gene Symbol: PPOX
PPOX
CUI: C0162532
Disease:
Variegate Porphyria 		0.700 GeneticVariation UNIPROT Identification of the first variegate porphyria mutation in an indigenous black South African and further evidence for heterogeneity in variegate porphyria. 11350188 2001
dbSNP: rs141274934
rs141274934
Entrez Id: 5498
Gene Symbol: PPOX
PPOX
CUI: C0162532
Disease:
Variegate Porphyria 		0.700 GeneticVariation UNIPROT A spectrum of novel mutations in the protoporphyrinogen oxidase gene in 13 families with variegate porphyria. 11348478 2001
dbSNP: rs141274934
rs141274934
Entrez Id: 5498
Gene Symbol: PPOX
PPOX
CUI: C0162532
Disease:
Variegate Porphyria 		0.700 GeneticVariation UNIPROT Expression and characterization of six mutations in the protoporphyrinogen oxidase gene among Finnish variegate porphyria patients. 11474578 2001
dbSNP: rs141274934
rs141274934
Entrez Id: 5498
Gene Symbol: PPOX
PPOX
CUI: C0162532
Disease:
Variegate Porphyria 		0.700 GeneticVariation UNIPROT Homozygous variegate porphyria in South Africa: genotypic analysis in two cases. 10870850 2000
dbSNP: rs141274934
rs141274934
Entrez Id: 5498
Gene Symbol: PPOX
PPOX
CUI: C0162532
Disease:
Variegate Porphyria 		0.700 GeneticVariation UNIPROT Three novel mutations in the protoporphyrinogen oxidase gene in Japanese patients with variegate porphyria. 11074242 2000
dbSNP: rs141274934
rs141274934
Entrez Id: 5498
Gene Symbol: PPOX
PPOX
CUI: C0162532
Disease:
Variegate Porphyria 		0.700 GeneticVariation UNIPROT Two new mutations (H106P and L178V) in the protoporphyrinogen oxidase gene in Argentinean patients with variegate porphyria. 11102990 2000
dbSNP: rs141274934
rs141274934
Entrez Id: 5498
Gene Symbol: PPOX
PPOX
CUI: C0162532
Disease:
Variegate Porphyria 		0.700 GeneticVariation UNIPROT Molecular basis of variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene. 9541112 1998
dbSNP: rs141274934
rs141274934
Entrez Id: 5498
Gene Symbol: PPOX
PPOX
CUI: C0162532
Disease:
Variegate Porphyria 		0.700 GeneticVariation UNIPROT A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria. 8673113 1996
dbSNP: rs141274934
rs141274934
Entrez Id: 5498
Gene Symbol: PPOX
PPOX
CUI: C0162532
Disease:
Variegate Porphyria 		0.700 GeneticVariation UNIPROT Identification of three mutations and associated haplotypes in the protoporphyrinogen oxidase gene in South African families with variegate porphyria. 8817334 1996