DisGeNET - a database of gene-disease associations

PPOX, protoporphyrinogen oxidase, 5498

N. diseases: 53; N. variants: 28

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121918324

Entrez Id:	5498
Gene Symbol:	PPOX

PPOX

CUI:	C0162532
Disease:

Variegate Porphyria

0.880

GeneticVariation

UNIPROT

Homozygous variegate porphyria presenting with developmental and language delay in childhood.

24073655

2013

dbSNP:

rs121918324

Entrez Id:	5498
Gene Symbol:	PPOX

PPOX

CUI:	C0162532
Disease:

Variegate Porphyria

0.880

GeneticVariation

UNIPROT

Quantitative structural insight into human variegate porphyria disease.

23467411

2013

dbSNP:

rs121918324

Entrez Id:	5498
Gene Symbol:	PPOX

PPOX

CUI:	C0162532
Disease:

Variegate Porphyria

0.880

GeneticVariation

UNIPROT

Functional Characterization of Five Protoporphyrinogen oxidase Missense Mutations Found in Argentinean Variegate Porphyria Patients.

23430901

2012

dbSNP:

rs121918324

Entrez Id:	5498
Gene Symbol:	PPOX

PPOX

CUI:	C0162532
Disease:

Variegate Porphyria

0.880

GeneticVariation

BEFREE

Our data deliver further confirmation that the South African and Dutch VP families carrying mutation p.R59W shared a common ancestor.

21910705

2012

dbSNP:

rs121918324

Entrez Id:	5498
Gene Symbol:	PPOX

PPOX

CUI:	C0162532
Disease:

Variegate Porphyria

0.880

GeneticVariation

UNIPROT

Novel human pathological mutations. Gene symbol: PPOX. Disease: porphyria, variegate.

19320019

2009

dbSNP:

rs121918324

Entrez Id:	5498
Gene Symbol:	PPOX

PPOX

CUI:	C0162532
Disease:

Variegate Porphyria

0.880

GeneticVariation

UNIPROT

Genetic and biochemical studies in Argentinean patients with variegate porphyria.

18570668

2008

dbSNP:

rs121918324

Entrez Id:	5498
Gene Symbol:	PPOX

PPOX

CUI:	C0162532
Disease:

Variegate Porphyria

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

Entrez Id:	5498
Gene Symbol:	PPOX

PPOX

CUI:	C0162532
Disease:

Variegate Porphyria

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

Entrez Id:	5498
Gene Symbol:	PPOX

PPOX

CUI:	C0162532
Disease:

Variegate Porphyria

0.880

GeneticVariation

BEFREE

This study represents the first report of overrepresentation of mutation R59W in a patient with a severe form of VP.

15660919

2005

dbSNP:

rs121918324

Entrez Id:	5498
Gene Symbol:	PPOX

PPOX

CUI:	C0162532
Disease:

Variegate Porphyria

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

Entrez Id:	5498
Gene Symbol:	PPOX

PPOX

CUI:	C0162532
Disease:

Variegate Porphyria

0.880

GeneticVariation

UNIPROT

The R59W founder mutation responsible for over 90% of variegate porphyria in South Africa was excluded.

12380696

2003

dbSNP:

rs121918324

Entrez Id:	5498
Gene Symbol:	PPOX

PPOX

CUI:	C0162532
Disease:

Variegate Porphyria

0.880

GeneticVariation

UNIPROT

Nine novel mutations in the protoporphyrinogen oxidase gene in Swedish families with variegate porphyria.

12859407

2003

dbSNP:

rs121918324

Entrez Id:	5498
Gene Symbol:	PPOX

PPOX

CUI:	C0162532
Disease:

Variegate Porphyria

0.880

GeneticVariation

BEFREE

The R59W founder mutation responsible for over 90% of variegate porphyria in South Africa was excluded.

12380696

2003

dbSNP:

rs121918324

Entrez Id:	5498
Gene Symbol:	PPOX

PPOX

CUI:	C0162532
Disease:

Variegate Porphyria

0.880

GeneticVariation

BEFREE

Variegate porphyria (VP) is caused by the founder-type protoporphyrinogen oxidase (PPOX) gene mutation R59W in the majority of South African patients.

11930946

2002

dbSNP:

rs121918324

Entrez Id:	5498
Gene Symbol:	PPOX

PPOX

CUI:	C0162532
Disease:

Variegate Porphyria

0.880

GeneticVariation

UNIPROT

A spectrum of novel mutations in the protoporphyrinogen oxidase gene in 13 families with variegate porphyria.

11348478

2001

dbSNP:

rs121918324

Entrez Id:	5498
Gene Symbol:	PPOX

PPOX

CUI:	C0162532
Disease:

Variegate Porphyria

0.880

GeneticVariation

BEFREE

Here we investigate the molecular basis of variegate porphyria in four non-R59W South African families.

11350188

2001

dbSNP:

rs121918324

Entrez Id:	5498
Gene Symbol:	PPOX

PPOX

CUI:	C0162532
Disease:

Variegate Porphyria

0.880

GeneticVariation

UNIPROT

Expression and characterization of six mutations in the protoporphyrinogen oxidase gene among Finnish variegate porphyria patients.

11474578

2001

dbSNP:

rs121918324

Entrez Id:	5498
Gene Symbol:	PPOX

PPOX

CUI:	C0162532
Disease:

Variegate Porphyria

0.880

GeneticVariation

UNIPROT

Homozygous variegate porphyria: 20 y follow-up and characterization of molecular defect.

11286631

2001

dbSNP:

rs121918324

Entrez Id:	5498
Gene Symbol:	PPOX

PPOX

CUI:	C0162532
Disease:

Variegate Porphyria

0.880

GeneticVariation

UNIPROT

Here we investigate the molecular basis of variegate porphyria in four non-R59W South African families.

11350188

2001

dbSNP:

rs121918324

Entrez Id:	5498
Gene Symbol:	PPOX

PPOX

CUI:	C0162532
Disease:

Variegate Porphyria

0.880

GeneticVariation

UNIPROT

Three novel mutations in the protoporphyrinogen oxidase gene in Japanese patients with variegate porphyria.

11074242

2000

dbSNP:

rs121918324

Entrez Id:	5498
Gene Symbol:	PPOX

PPOX

CUI:	C0162532
Disease:

Variegate Porphyria

0.880

GeneticVariation

UNIPROT

Homozygous variegate porphyria in South Africa: genotypic analysis in two cases.

10870850

2000

dbSNP:

rs121918324

Entrez Id:	5498
Gene Symbol:	PPOX

PPOX

CUI:	C0162532
Disease:

Variegate Porphyria

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

Entrez Id:	5498
Gene Symbol:	PPOX

PPOX

CUI:	C0162532
Disease:

Variegate Porphyria

0.880

GeneticVariation

BEFREE

Mutation Q127H was detected in exon 3 of the HFE gene together with mutation H63D in an apparently severely affected patient previously shown to carry the protoporphyrinogen oxidase ( PPOX ) gene mutation R59W, which accounts for dominantly inherited variegate porphyria (VP) in >80% of affected South Africans.

10401000

1999

dbSNP:

rs121918324

Entrez Id:	5498
Gene Symbol:	PPOX

PPOX

CUI:	C0162532
Disease:

Variegate Porphyria

0.880

GeneticVariation

UNIPROT

Molecular basis of variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene.

9541112

1998

dbSNP:

rs121918324

Entrez Id:	5498
Gene Symbol:	PPOX

PPOX

CUI:	C0162532
Disease:

Variegate Porphyria

0.880

GeneticVariation

BEFREE

This further evidence for allelic heterogeneity limits the utility of tests for the R59W mutation in the diagnosis of variegate porphyria in South Africa.

9829909

1998