DisGeNET - a database of gene-disease associations

HEIMLER SYNDROME 2, C4225267

Variant: rs34324426 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs34324426

PEX6

0.800

CausalMutation

CLINVAR

Spectrum of PEX1 and PEX6 variants in Heimler syndrome.

27302843

2016

dbSNP:

rs34324426

PEX6

0.800

CausalMutation

CLINVAR

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

26387595

2015

dbSNP:

rs34324426

PEX6

0.800

CausalMutation

CLINVAR

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

25079577

2014

dbSNP:

rs34324426

PEX6

0.800

CausalMutation

CLINVAR

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

21031596

2011

dbSNP:

rs34324426

PEX6

0.800

CausalMutation

CLINVAR

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

19105186

2009

dbSNP:

rs34324426

PEX6

0.800

GeneticVariation

UNIPROT