DisGeNET - a database of gene-disease associations

PEX5, peroxisomal biogenesis factor 5, 5830

N. diseases: 174; N. variants: 5

Disease: Chondrodysplasia Punctata, Rhizomelic ×

Variant: rs796051881 ×

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:

rs796051881

Entrez Id:	5830
Gene Symbol:	PEX5

PEX5

CUI:	C0282529
Disease:

Chondrodysplasia Punctata, Rhizomelic

0.700

CausalMutation

CLINVAR

A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.

26220973

2015