DisGeNET - a database of gene-disease associations

PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), C3553936

Variant: rs267608229 ×

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:

rs267608229

PEX6

0.700

CausalMutation

CLINVAR

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

25525159

2015

dbSNP:

rs267608229

PEX6

0.700

CausalMutation

CLINVAR

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

19105186

2009

dbSNP:

rs267608229

PEX6

0.700

CausalMutation

CLINVAR

Alternative splicing suggests extended function of PEX26 in peroxisome biogenesis.

15858711

2005

dbSNP:

rs267608229

PEX6

0.700

CausalMutation

CLINVAR

The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor.

8670792

1996