DisGeNET - a database of gene-disease associations

Source: INFERRED

Disease: Epilepsy ×

Gene: PEX5 ×

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	5830
Gene Symbol:	PEX5

PEX5

CUI:	C0014544
Disease:	Epilepsy

Epilepsy

0.100

CausalMutation

CLINVAR

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

2015