DisGeNET - a database of gene-disease associations

PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), C4721541

Variant: rs61750418 ×

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:

rs61750418

PEX1

0.700

GeneticVariation

CLINVAR

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

21031596

2011

dbSNP:

rs61750418

PEX1

0.700

GeneticVariation

CLINVAR

Characterization of two common 5' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients.

21846392

2011

dbSNP:

rs61750418

PEX1

0.700

GeneticVariation

CLINVAR

PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders.

16086329

2005

dbSNP:

rs61750418

PEX1

0.700

GeneticVariation

CLINVAR

Genetic and clinical aspects of Zellweger spectrum patients with PEX1 mutations.

16141001

2005

dbSNP:

rs61750418

PEX1

0.700

GeneticVariation

CLINVAR

Identification of a common PEX1 mutation in Zellweger syndrome.

10447258

1999

dbSNP:

rs61750418

PEX1

0.700

CausalMutation

CLINVAR