DisGeNET - a database of gene-disease associations

HEIMLER SYNDROME 2, C4225267

Source: ALL

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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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs34324426

PEX6

0.800

GeneticVariation

UNIPROT

dbSNP:

rs61753219

PEX6

0.800

GeneticVariation

UNIPROT

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

26387595

2015

dbSNP:

rs61753219

PEX6

0.800

GeneticVariation

UNIPROT

Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.

19105186

2009

dbSNP:

rs61753219

PEX6

0.800

GeneticVariation

UNIPROT

Spectrum of PEX1 and PEX6 variants in Heimler syndrome.

27302843

2016

dbSNP:

rs61753224

PEX6

0.800

GeneticVariation

UNIPROT

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

26387595

2015

dbSNP:

rs61753224

PEX6

0.800

GeneticVariation

UNIPROT

Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.

19105186

2009

dbSNP:

rs61753224

PEX6

0.800

GeneticVariation

UNIPROT

Spectrum of PEX1 and PEX6 variants in Heimler syndrome.

27302843

2016

dbSNP:

rs769896492

PEX6

0.800

GeneticVariation

UNIPROT

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

26387595

2015

dbSNP:

rs769896492

PEX6

0.800

GeneticVariation

UNIPROT

Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.

19105186

2009

dbSNP:

rs769896492

PEX6

0.800

GeneticVariation

UNIPROT

Spectrum of PEX1 and PEX6 variants in Heimler syndrome.

27302843

2016

dbSNP:

rs886037779

PEX6

0.800

GeneticVariation

UNIPROT

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

26387595

2015

dbSNP:

rs886037779

PEX6

0.800

GeneticVariation

UNIPROT

Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.

19105186

2009

dbSNP:

rs886037779

PEX6

0.800

GeneticVariation

UNIPROT

Spectrum of PEX1 and PEX6 variants in Heimler syndrome.

27302843

2016

dbSNP:

rs886037780

PEX6

0.800

GeneticVariation

UNIPROT

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

26387595

2015

dbSNP:

rs886037780

PEX6

0.800

GeneticVariation

UNIPROT

Spectrum of PEX1 and PEX6 variants in Heimler syndrome.

27302843

2016

dbSNP:

rs886037780

PEX6

0.800

GeneticVariation

UNIPROT

Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.

19105186

2009

dbSNP:

rs886037781

PEX6

0.800

GeneticVariation

UNIPROT

Spectrum of PEX1 and PEX6 variants in Heimler syndrome.

27302843

2016

dbSNP:

rs886037781

PEX6

0.800

GeneticVariation

UNIPROT

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

26387595

2015

dbSNP:

rs886037781

PEX6

0.800

GeneticVariation

UNIPROT

Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.

19105186

2009

dbSNP:

rs886037782

PEX6

0.800

GeneticVariation

UNIPROT

Spectrum of PEX1 and PEX6 variants in Heimler syndrome.

27302843

2016

dbSNP:

rs886037782

PEX6

0.800

GeneticVariation

UNIPROT

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

26387595

2015

dbSNP:

rs886037782

PEX6

0.800

GeneticVariation

UNIPROT

Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.

19105186

2009

dbSNP:

rs61753219

PEX6

0.800

CausalMutation

CLINVAR

dbSNP:

rs61753224

PEX6

0.800

CausalMutation

CLINVAR

A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents.

11873320

2002

dbSNP:

rs61753224

PEX6

0.800

CausalMutation

CLINVAR

Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients.

19877282

2010