DisGeNET - a database of gene-disease associations

PEX6, peroxisomal biogenesis factor 6, 5190

N. diseases: 232; N. variants: 58

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:

rs34324426

Entrez Id:	5190
Gene Symbol:	PEX6

PEX6

CUI:	C4225267
Disease:

HEIMLER SYNDROME 2

0.800

CausalMutation

CLINVAR

Spectrum of PEX1 and PEX6 variants in Heimler syndrome.

27302843

2016

dbSNP:

rs61753219

Entrez Id:	5190
Gene Symbol:	PEX6

PEX6

CUI:	C4225267
Disease:

HEIMLER SYNDROME 2

0.800

GeneticVariation

UNIPROT

Spectrum of PEX1 and PEX6 variants in Heimler syndrome.

27302843

2016

dbSNP:

rs61753224

Entrez Id:	5190
Gene Symbol:	PEX6

PEX6

CUI:	C4225267
Disease:

HEIMLER SYNDROME 2

0.800

CausalMutation

CLINVAR

Spectrum of PEX1 and PEX6 variants in Heimler syndrome.

27302843

2016

dbSNP:

rs61753224

Entrez Id:	5190
Gene Symbol:	PEX6

PEX6

CUI:	C4225267
Disease:

HEIMLER SYNDROME 2

0.800

GeneticVariation

UNIPROT

Spectrum of PEX1 and PEX6 variants in Heimler syndrome.

27302843

2016

dbSNP:

rs769896492

Entrez Id:	5190
Gene Symbol:	PEX6

PEX6

CUI:	C4225267
Disease:

HEIMLER SYNDROME 2

0.800

GeneticVariation

UNIPROT

Spectrum of PEX1 and PEX6 variants in Heimler syndrome.

27302843

2016

dbSNP:

rs886037779

Entrez Id:	5190
Gene Symbol:	PEX6

PEX6

CUI:	C4225267
Disease:

HEIMLER SYNDROME 2

0.800

CausalMutation

CLINVAR

Spectrum of PEX1 and PEX6 variants in Heimler syndrome.

27302843

2016

dbSNP:

rs886037779

Entrez Id:	5190
Gene Symbol:	PEX6

PEX6

CUI:	C4225267
Disease:

HEIMLER SYNDROME 2

0.800

GeneticVariation

UNIPROT

Spectrum of PEX1 and PEX6 variants in Heimler syndrome.

27302843

2016

dbSNP:

rs886037780

Entrez Id:	5190
Gene Symbol:	PEX6

PEX6

CUI:	C4225267
Disease:

HEIMLER SYNDROME 2

0.800

CausalMutation

CLINVAR

Spectrum of PEX1 and PEX6 variants in Heimler syndrome.

27302843

2016

dbSNP:

rs886037780

Entrez Id:	5190
Gene Symbol:	PEX6

PEX6

CUI:	C4225267
Disease:

HEIMLER SYNDROME 2

0.800

GeneticVariation

UNIPROT

Spectrum of PEX1 and PEX6 variants in Heimler syndrome.

27302843

2016

dbSNP:

rs886037781

Entrez Id:	5190
Gene Symbol:	PEX6

PEX6

CUI:	C4225267
Disease:

HEIMLER SYNDROME 2

0.800

GeneticVariation

UNIPROT

Spectrum of PEX1 and PEX6 variants in Heimler syndrome.

27302843

2016

dbSNP:

rs886037781

Entrez Id:	5190
Gene Symbol:	PEX6

PEX6

CUI:	C4225267
Disease:

HEIMLER SYNDROME 2

0.800

CausalMutation

CLINVAR

Spectrum of PEX1 and PEX6 variants in Heimler syndrome.

27302843

2016

dbSNP:

rs886037782

Entrez Id:	5190
Gene Symbol:	PEX6

PEX6

CUI:	C4225267
Disease:

HEIMLER SYNDROME 2

0.800

GeneticVariation

UNIPROT

Spectrum of PEX1 and PEX6 variants in Heimler syndrome.

27302843

2016

dbSNP:

rs886037782

Entrez Id:	5190
Gene Symbol:	PEX6

PEX6

CUI:	C4225267
Disease:

HEIMLER SYNDROME 2

0.800

CausalMutation

CLINVAR

Spectrum of PEX1 and PEX6 variants in Heimler syndrome.

27302843

2016

dbSNP:

rs34324426

Entrez Id:	5190
Gene Symbol:	PEX6

PEX6

CUI:	C4225267
Disease:

HEIMLER SYNDROME 2

0.800

CausalMutation

CLINVAR

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.

26387595

2015

dbSNP:

rs61753219

Entrez Id:	5190
Gene Symbol:	PEX6

PEX6

CUI:	C4225267
Disease:

HEIMLER SYNDROME 2

0.800

GeneticVariation

UNIPROT

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.

26387595

2015

dbSNP:

rs61753224

Entrez Id:	5190
Gene Symbol:	PEX6

PEX6

CUI:	C4225267
Disease:

HEIMLER SYNDROME 2

0.800

GeneticVariation

UNIPROT

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.

26387595

2015

dbSNP:

rs61753229

Entrez Id:	5190
Gene Symbol:	PEX6

PEX6

CUI:	C3553936
Disease:

PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)

0.800

GeneticVariation

CLINVAR

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

25525159

2015

dbSNP:

rs769896492

Entrez Id:	5190
Gene Symbol:	PEX6

PEX6

CUI:	C4225267
Disease:

HEIMLER SYNDROME 2

0.800

GeneticVariation

UNIPROT

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.

26387595

2015

dbSNP:

rs886037779

Entrez Id:	5190
Gene Symbol:	PEX6

PEX6

CUI:	C4225267
Disease:

HEIMLER SYNDROME 2

0.800

GeneticVariation

UNIPROT

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.

26387595

2015

dbSNP:

rs886037780

Entrez Id:	5190
Gene Symbol:	PEX6

PEX6

CUI:	C4225267
Disease:

HEIMLER SYNDROME 2

0.800

GeneticVariation

UNIPROT

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.

26387595

2015

dbSNP:

rs886037781

Entrez Id:	5190
Gene Symbol:	PEX6

PEX6

CUI:	C4225267
Disease:

HEIMLER SYNDROME 2

0.800

GeneticVariation

UNIPROT

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.

26387595

2015

dbSNP:

rs886037782

Entrez Id:	5190
Gene Symbol:	PEX6

PEX6

CUI:	C4225267
Disease:

HEIMLER SYNDROME 2

0.800

GeneticVariation

UNIPROT

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.

26387595

2015

dbSNP:

rs34324426

Entrez Id:	5190
Gene Symbol:	PEX6

PEX6

CUI:	C4225267
Disease:

HEIMLER SYNDROME 2

0.800

CausalMutation

CLINVAR

Late-onset Zellweger spectrum disorder caused by PEX6 mutations mimicking X-linked adrenoleukodystrophy.

25079577

2014

dbSNP:

rs34324426

Entrez Id:	5190
Gene Symbol:	PEX6

PEX6

CUI:	C4225267
Disease:

HEIMLER SYNDROME 2

0.800

CausalMutation

CLINVAR

Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.

21031596

2011

dbSNP:

rs61753224

Entrez Id:	5190
Gene Symbol:	PEX6

PEX6

CUI:	C4225267
Disease:

HEIMLER SYNDROME 2

0.800

CausalMutation

CLINVAR

Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients.

19877282

2010